| Code | Display |
| M1.1 |
Colorectal Carcinoma, Multi-target NGS panel, small variant (KRAS, NRAS, BRAF) |
| M1.2 |
Colorectal Carcinoma, KRAS hotspot |
| M1.3 |
Colorectal Carcinoma, NRAS hotspot |
| M1.4 |
Colorectal Carcinoma, MSI Testing |
| M1.5 |
Colorectal Carcinoma, MLH1 promoter hypermethylation |
| M1.6 |
Colorectal Carcinoma, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M1.7 |
Colorectal Carcinoma, DPYD hotspot |
| M1.9 |
Colorectal Carcinoma, Multi-target NGS panel, small variant (MLH1, MSH2, MSH6, PMS2, POLE, POLD1) |
| M10.1 |
Thyroid Follicular Carcinoma, Multi-target NGS panel, small variant (KRAS, NRAS, HRAS) |
| M10.2 |
Thyroid Follicular Carcinoma, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3, RET) |
| M100.1 |
Primary Mediastinal B Cell Lymphoma, CD274, PDCD1LG2 rearrangement FISH |
| M100.2 |
Primary Mediastinal B Cell Lymphoma, CD274, PDCD1LG2 Copy number FISH |
| M100.3 |
Primary Mediastinal B Cell Lymphoma, REL copy number FISH |
| M100.4 |
Primary Mediastinal B Cell Lymphoma, WGS Germline and Tumour |
| M100.5 |
Primary Mediastinal B Cell Lymphoma, Multi-target NGS panel, copy number variant (CD274, PDCD1LG2, REL) |
| M100.6 |
Primary Mediastinal B Cell Lymphoma, Multi-target NGS panel, rearrangement (CD274, PDCD1LG2) |
| M100.7 |
Primary Mediastinal B Cell Lymphoma, WGS Tumour First |
| M100.8 |
Primary Mediastinal B Cell Lymphoma, WGS Follow-up Germline |
| M101.1 |
ALK Positive Large B Cell Lymphoma, ALK rearrangement FISH |
| M101.2 |
ALK Positive Large B Cell Lymphoma, t(2;17)(p23;q23) CLTC-ALK FISH/RT-PCR |
| M101.3 |
ALK Positive Large B Cell Lymphoma, t(2;5)(p23;q35) ALK-NPM1 FISH/RT-PCR |
| M101.4 |
ALK Positive Large B Cell Lymphoma, WGS Germline and Tumour |
| M101.5 |
ALK Positive Large B Cell Lymphoma, Multi-target NGS panel, structural variant (CLTC-ALK, ALK-NPM1, other ALK rearrangements) |
| M101.6 |
ALK Positive Large B Cell Lymphoma, WGS Tumour First |
| M101.7 |
ALK Positive Large B Cell Lymphoma, WGS Follow-up Germline |
| M102.1 |
Mantle Cell Lymphoma, t(11;14)(q13;q32) IGH-CCND1 FISH/RT-PCR |
| M102.2 |
Mantle Cell Lymphoma, CCND1 rearrangement FISH |
| M102.3 |
Mantle Cell Lymphoma, CCND2 rearrangement FISH |
| M102.4 |
Mantle Cell Lymphoma, Multi-target NGS panel, structural variant (IGH-CCND1, other CCND1 rearrangements, CCND2) |
| M102.5 |
Mantle Cell Lymphoma, Multi-target NGS panel, small variant (TP53) |
| M103.1 |
Follicular Lymphoma, t(14;18)(q32;q21) IGH-BCL2 FISH/RT-PCR |
| M103.2 |
Follicular Lymphoma, BCL2 rearrangement FISH |
| M103.3 |
Follicular Lymphoma, BCL6 rearrangement FISH |
| M103.4 |
Follicular Lymphoma, Multi-target NGS panel, small variant (CARD11, CREBBP, EZH2, ARID1A, EP300, MEF2B, FOXO1) |
| M103.5 |
Follicular Lymphoma, Multi-target NGS panel, structural variant (IGH-BCL2, BCL2, BCL6) |
| M104.1 |
Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinaemia, Multi-target NGS panel, small variant (MYD88, CXCR4) |
| M104.2 |
Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinaemia, MYD88 hotspot |
| M105.1 |
Igm Monoclonal Gammopathy of Uncertain Significance, Multi-target NGS panel, small variant (MYD88, CXCR4) |
| M105.2 |
Igm Monoclonal Gammopathy of Uncertain Significance, MYD88 hotspot |
| M106.1 |
Intra-Ocular Lymphoma, MYD88 hotspot |
| M107.1 |
Malt-Lymphoma, t(11;18)(q21;q21) BIRC3-MALT1 FISH/RT-PCR |
| M107.10 |
Malt-Lymphoma, WGS Follow-up Germline |
| M107.2 |
Malt-Lymphoma, t(1;14)(p22;q32) IGH-BCL10 FISH/RT-PCR |
| M107.3 |
Malt-Lymphoma, t(14;18)(q32;q21) IGH-MALT1 FISH/RT-PCR |
| M107.4 |
Malt-Lymphoma, MALT1 rearrangement FISH |
| M107.5 |
Malt-Lymphoma, BCL10 rearrangement FISH |
| M107.6 |
Malt-Lymphoma, FOXP1 rearrangement FISH |
| M107.7 |
Malt-Lymphoma, WGS Germline and Tumour |
| M107.8 |
Malt-Lymphoma, Multi-target NGS panel, structural variant (BIRC3-MALT1, IGH-BCL10, IGH-MALT1, other MALT rearrangements, other BCL10 rearrangements, FOXP1) |
| M107.9 |
Malt-Lymphoma, WGS Tumour First |
| M108.1 |
Hairy Cell Leukaemia, Multi-target NGS panel, small variant (BRAF) |
| M108.2 |
Hairy Cell Leukaemia, BRAF V600 hotspot |
| M108.5 |
Hairy Cell Leukaemia, Ig gene hypermutation detection multiplex seq |
| M108.6 |
Hairy Cell Leukaemia, Ig gene hypermutation detection NGS |
| M109.1 |
Hairy Cell Leukaemia, Vh4-34 Variant, Ig gene (heavy chain) rearrangement detection multiplex seq |
| M109.2 |
Hairy Cell Leukaemia, Vh4-34 Variant, Ig gene (heavy chain) rearrangement detection NGS |
| M11.1 |
Poorly Differentiated Anaplastic Thyroid Carcinoma, Multi-target NGS panel, small variant (TP53, BRAF) |
| M11.2 |
Poorly Differentiated Anaplastic Thyroid Carcinoma, Multi-target NGS panel, copy number variant (TP53) |
| M11.3 |
Poorly Differentiated Anaplastic Thyroid Carcinoma, del(17p) TP53 copy number FISH |
| M11.4 |
Poorly Differentiated Anaplastic Thyroid Carcinoma, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3, RET, ALK) |
| M110.1, |
Paediatric Type Follicular Lymphoma, Multi-target NGS panel, small variant (MAP2K1) |
| M110.2, |
Paediatric Type Follicular Lymphoma, WGS Germline and Tumour |
| M110.3, |
Paediatric Type Follicular Lymphoma, WGS Tumour First |
| M110.4, |
Paediatric Type Follicular Lymphoma, WGS Follow-up Germline |
| M111.1 |
T Cell Non-Hodgkin Lymphoma, Multi-target NGS panel, small variant (RHOA, DNMT3A, IDH2, TET2) |
| M111.2 |
T Cell Non-Hodgkin Lymphoma, TCR gene rearrangement detection multiplex seq |
| M111.3 |
T Cell Non-Hodgkin Lymphoma, TCR gene rearrangement detection NGS |
| M111.4 |
T Cell Non-Hodgkin Lymphoma, TCR rearrangement FISH |
| M111.5 |
T Cell Non-Hodgkin Lymphoma, WGS Germline and Tumour |
| M111.6 |
T Cell Non-Hodgkin Lymphoma, Multi-target NGS panel, structural variant (TCR rearrangement) |
| M111.7 |
T Cell Non-Hodgkin Lymphoma, WGS Tumour First |
| M111.8 |
T Cell Non-Hodgkin Lymphoma, WGS Follow-up Germline |
| M112.3 |
ALK Negative Anaplastic Large Cell Lymphoma (Including Primary Cutaneous Subtypes), IRF4/DUSP22 rearrangement FISH/RT-PCR |
| M112.4 |
ALK Negative Anaplastic Large Cell Lymphoma (Including Primary Cutaneous Subtypes), TP63 rearrangement FISH/RT-PCR |
| M112.5 |
ALK Negative Anaplastic Large Cell Lymphoma (Including Primary Cutaneous Subtypes), WGS Germline and Tumour |
| M112.6 |
ALK Negative Anaplastic Large Cell Lymphoma (Including Primary Cutaneous Subtypes), Multi-target NGS panel, structural variant (IRF4/DUSP22, TP63) |
| M112.7 |
ALK Negative Anaplastic Large Cell Lymphoma (Including Primary Cutaneous Subtypes), WGS Tumour First |
| M112.8 |
ALK Negative Anaplastic Large Cell Lymphoma (Including Primary Cutaneous Subtypes), WGS Follow-up Germline |
| M113.1 |
T Prolymphocytic Leukaemia, TCL1A rearrangement FISH |
| M113.2 |
T Prolymphocytic Leukaemia, Chr8 rearrangement FISH |
| M113.3 |
T Prolymphocytic Leukaemia, Multi-target NGS panel, structural variant (TCL1A, Chr8) |
| M113.6 |
T Prolymphocytic Leukaemia, Karyotype (to include TCL1 rearrangements t(X;14)) |
| M114.1 |
Large Granular Lymphocyte Leukaemia, Multi-target NGS panel, small variant (STAT3, STAT5B) |
| M115.1 |
NK Cell/Gamma-Delta T Cell Lymphoma, Multi-target NGS panel, small variant (STAT3, STAT5B) |
| M115.2 |
NK Cell/Gamma-Delta T Cell Lymphoma, WGS Germline and Tumour |
| M115.3 |
NK Cell/Gamma-Delta T Cell Lymphoma, WGS Tumour First |
| M115.4 |
NK Cell/Gamma-Delta T Cell Lymphoma, WGS Follow-up Germline |
| M116.1 |
Hepatosplenic T Cell Lymphoma, Multi-target NGS panel, small variant (STAT3, STAT5B) |
| M116.2 |
Hepatosplenic T Cell Lymphoma, i7q rearrangement FISH |
| M116.3 |
Hepatosplenic T Cell Lymphoma, WGS Germline and Tumour |
| M116.4 |
Hepatosplenic T Cell Lymphoma, Multi-target NGS panel, structural variant (i17q) |
| M116.5 |
Hepatosplenic T Cell Lymphoma, WGS Tumour First |
| M116.6 |
Hepatosplenic T Cell Lymphoma, WGS Follow-up Germline |
| M117.1 |
Histiocytosis, Multi-target NGS panel, small variant (BRAF, MAP2K1, NRAS, KRAS, HRAS, ERBB3, ARAF, MAP3K1, PIK3CA, PIK3CD) |
| M117.12 |
Histiocytosis, NTRK1 rearrangement FISH |
| M117.16 |
Histiocytosis, WGS Germline and Tumour |
| M117.17 |
Histiocytosis, WGS Tumour First |
| M117.18 |
Histiocytosis, WGS Follow-up Germline |
| M117.19 |
Histiocytosis, High Sensitivity BRAF |
| M117.2 |
Histiocytosis, Multi-target NGS panel, structural variant |
| M117.3 |
Histiocytosis, ALK rearrangement FISH |
| M117.7 |
Histiocytosis, BRAF rearrangement FISH |
| M118.1 |
Any patient undergoing Allogeneic Haematopoietic Stem Cell transplantation, STR Testing |
| M118.2 |
Any patient undergoing Allogeneic Haematopoietic Stem Cell transplantation, Sex chromosome FISH |
| M119.1, |
Paediatric Tumours, WGS Germline and Tumour |
| M119.2, |
Paediatric Tumours, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M119.4, |
Paediatric Tumours, DPYD hotspot |
| M119.5, |
Paediatric Tumours, Multi-target NGS-small variant |
| M12.1 |
Thyroid Medullary Carcinoma, Multi-target NGS panel, small variant (RET) |
| M12.2 |
Thyroid Medullary Carcinoma, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M120.1 |
Atypical Teratoid/Rhabdoid Tumour, Paediatric, Multi-target NGS panel, small variant (SMARCA4, SMARCB1) |
| M120.10 |
Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-AKAP9 FISH/RT-PCR |
| M120.11 |
Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-CCDC6 FISH/RT-PCR |
| M120.12 |
Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-FAM118B FISH/RT-PCR |
| M120.13 |
Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-GNAI1 FISH/RT-PCR |
| M120.14 |
Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-MACF1 FISH/RT-PCR |
| M120.15 |
Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF rearrangement FISH |
| M120.16 |
Atypical Teratoid/Rhabdoid Tumour, Paediatric, WGS Germline and Tumour |
| M120.17 |
Atypical Teratoid/Rhabdoid Tumour, Paediatric, Multi-target NGS panel, copy number variant (SMARCA4, SMARCB1) |
| M120.18 |
Atypical Teratoid/Rhabdoid Tumour, Paediatric, DNA Methylation |
| M120.2 |
Atypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCA4 seq |
| M120.3 |
Atypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCB1 seq |
| M120.4 |
Atypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCA4 copy number FISH |
| M120.5 |
Atypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCB1 copy number FISH |
| M120.6 |
Atypical Teratoid/Rhabdoid Tumour, Paediatric, Multi-target NGS panel, structural variant |
| M120.7 |
Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-KIAA1549 FISH/RT-PCR |
| M120.8 |
Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-FXR1 FISH/RT-PCR |
| M120.9 |
Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-AGK FISH/RT-PCR |
| M124.1 |
Clear Cell Kidney Sarcoma, Paediatric, Multi-target NGS panel, small variant (BCOR) |
| M124.10 |
Clear Cell Kidney Sarcoma, Paediatric, Multi-target NGS panel, structural variant (BCOR, NUTM2B-YWHAE, NUTM2E-YWHAE, NUTM1-YWHAE, NTRK1, NTRK2, NTRK3) |
| M124.11 |
Clear Cell Kidney Sarcoma, Paediatric, Multi-target NGS panel, copy number variant (BCOR, YWHAE) |
| M124.2 |
Clear Cell Kidney Sarcoma, Paediatric, BCOR seq |
| M124.3 |
Clear Cell Kidney Sarcoma, Paediatric, BCOR copy number FISH |
| M124.4 |
Clear Cell Kidney Sarcoma, Paediatric, BCOR rearrangement FISH |
| M124.5 |
Clear Cell Kidney Sarcoma, Paediatric, NUTM2B-YWHAE FISH/RT-PCR |
| M124.6 |
Clear Cell Kidney Sarcoma, Paediatric, NUTM2E-YWHAE FISH/RT-PCR |
| M124.7 |
Clear Cell Kidney Sarcoma, Paediatric, NUTM1-YWHAE FISH/RT-PCR |
| M124.8 |
Clear Cell Kidney Sarcoma, Paediatric, YWHAE copy number FISH |
| M124.9 |
Clear Cell Kidney Sarcoma, Paediatric, WGS Germline and Tumour |
| M126.1 |
CNS High-Grade Neuroepithelial Tumour with MN1 Alteration, Paediatric, MN1 rearrangement FISH |
| M126.2 |
CNS High-Grade Neuroepithelial Tumour with MN1 Alteration, Paediatric, WGS Germline and Tumour |
| M126.3 |
CNS High-Grade Neuroepithelial Tumour with MN1 Alteration, Paediatric, Multi-target NGS panel, structural variant (MN1, NTRK1, NTRK2, NTRK3) |
| M126.4 |
CNS High-Grade Neuroepithelial Tumour with MN1 Alteration, Paediatric, DNA Methylation |
| M127.1 |
Congenital Mesoblastic Nephroma, Paediatric, NTRK3-ETV6 FISH/RT-PCR |
| M127.3 |
Congenital Mesoblastic Nephroma, Paediatric, WGS Germline and Tumour |
| M127.4 |
Congenital Mesoblastic Nephroma, Paediatric, Multi-target NGS panel, structural variant (NTRK3-ETV6, NTRK1, NTRK2, NTRK3) |
| M13.1 |
Phaeochromocytoma, Multi-target NGS panel, small variant (RET) |
| M13.2 |
Phaeochromocytoma, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M130.1 |
Cribriform Neuroepithelial Tumour, Paediatric, Multi-target NGS panel, small variant (SMARCB1) |
| M130.2 |
Cribriform Neuroepithelial Tumour, Paediatric, SMARCB1 seq |
| M130.3 |
Cribriform Neuroepithelial Tumour, Paediatric, SMARCB1 copy number FISH |
| M130.4 |
Cribriform Neuroepithelial Tumour, Paediatric, WGS Germline and Tumour |
| M130.5 |
Cribriform Neuroepithelial Tumour, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M130.6 |
Cribriform Neuroepithelial Tumour, Paediatric, Multi-target NGS panel, copy number variant (SMARCB1) |
| M130.7 |
Cribriform Neuroepithelial Tumour, Paediatric, DNA Methylation |
| M131.1 |
Cystic Nephroma, Paediatric, Multi-target NGS panel, small variant (DICER1) |
| M131.2 |
Cystic Nephroma, Paediatric, DICER1 seq |
| M131.3 |
Cystic Nephroma, Paediatric, DICER1 copy number FISH |
| M131.4 |
Cystic Nephroma, Paediatric, WGS Germline and Tumour |
| M131.5 |
Cystic Nephroma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M131.6 |
Cystic Nephroma, Paediatric, Multi-target NGS panel, copy number variant (DICER1) |
| M132.1 |
Desmoplastic Infantile Gangliogliomas, Paediatric, Multi-target NGS panel, small variant (BRAF) |
| M132.10 |
Desmoplastic Infantile Gangliogliomas, Paediatric, BRAF-MACF1 FISH/RT-PCR |
| M132.11 |
Desmoplastic Infantile Gangliogliomas, Paediatric, BRAF rearrangement FISH |
| M132.12 |
Desmoplastic Infantile Gangliogliomas, Paediatric, WGS Germline and Tumour |
| M132.13 |
Desmoplastic Infantile Gangliogliomas, Paediatric, DNA Methylation |
| M132.2 |
Desmoplastic Infantile Gangliogliomas, Paediatric, Multi-target NGS panel, structural variant |
| M132.3 |
Desmoplastic Infantile Gangliogliomas, Paediatric, BRAF-KIAA1549 FISH/RT-PCR |
| M132.4 |
Desmoplastic Infantile Gangliogliomas, Paediatric, BRAF-FXR1 FISH/RT-PCR |
| M132.5 |
Desmoplastic Infantile Gangliogliomas, Paediatric, BRAF-AGK FISH/RT-PCR |
| M132.6 |
Desmoplastic Infantile Gangliogliomas, Paediatric, BRAF-AKAP9 FISH/RT-PCR |
| M132.7 |
Desmoplastic Infantile Gangliogliomas, Paediatric, BRAF-CCDC6 FISH/RT-PCR |
| M132.8 |
Desmoplastic Infantile Gangliogliomas, Paediatric, BRAF-FAM118B FISH/RT-PCR |
| M132.9 |
Desmoplastic Infantile Gangliogliomas, Paediatric, BRAF-GNAI1 FISH/RT-PCR |
| M133.1 |
Desmoplastic Medulloblastoma, Paediatric, Multi-target NGS panel, small variant (SUFU) |
| M133.2 |
Desmoplastic Medulloblastoma, Paediatric, SUFU seq |
| M133.3 |
Desmoplastic Medulloblastoma, Paediatric, WGS Germline and Tumour |
| M133.4 |
Desmoplastic Medulloblastoma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M133.5 |
Desmoplastic Medulloblastoma, Paediatric, DNA Methylation |
| M136.1 |
Fibrolamellar Hepatocellular Carcinoma, Paediatric, DNAJB1-PRKACA FISH/RT-PCR |
| M136.2 |
Fibrolamellar Hepatocellular Carcinoma, Paediatric, WGS Germline and Tumour |
| M136.3 |
Fibrolamellar Hepatocellular Carcinoma, Paediatric, Multi-target NGS panel, structural variant (DNAJB1-PRKACA, NTRK1, NTRK2, NTRK3) |
| M136.5 |
Fibrolamellar Hepatocellular Carcinoma, Paediatric, DPYD hotspot |
| M137.1 |
Ganglioglioma, Paediatric, Multi-target NGS panel, small variant (BRAF) |
| M137.10 |
Ganglioglioma, Paediatric, BRAF-MACF1 FISH/RT-PCR |
| M137.11 |
Ganglioglioma, Paediatric, KIAA1549 copy number FISH |
| M137.12 |
Ganglioglioma, Paediatric, BRAF rearrangement FISH |
| M137.13 |
Ganglioglioma, Paediatric, WGS Germline and Tumour |
| M137.14 |
Ganglioglioma, Paediatric, Multi-target NGS panel, copy number variant (KIAA1549) |
| M137.15 |
Ganglioglioma, Paediatric, DNA Methylation |
| M137.2 |
Ganglioglioma, Paediatric, Multi-target NGS panel, structural variant (BRAF-KIAA1549, BRAF-FXR1, BRAF-AGK, BRAF-AKAP9, BRAF-CCDC6, BRAF-FAM118B, BRAF-GNAI1, BRAF-MACF1, other rearrangements of BRAF, NTRK1, NTRK2, NTRK3) |
| M137.3 |
Ganglioglioma, Paediatric, BRAF-KIAA1549 FISH/RT-PCR |
| M137.4 |
Ganglioglioma, Paediatric, BRAF-FXR1 FISH/RT-PCR |
| M137.5 |
Ganglioglioma, Paediatric, BRAF-AGK FISH/RT-PCR |
| M137.6 |
Ganglioglioma, Paediatric, BRAF-AKAP9 FISH/RT-PCR |
| M137.7 |
Ganglioglioma, Paediatric, BRAF-CCDC6 FISH/RT-PCR |
| M137.8 |
Ganglioglioma, Paediatric, BRAF-FAM118B FISH/RT-PCR |
| M137.9 |
Ganglioglioma, Paediatric, BRAF-GNAI1 FISH/RT-PCR |
| M138.1 |
Glial Tumours, Paediatric, Multi-target NGS panel, small variant (ATRX) |
| M138.2 |
Glial Tumours, Paediatric, WGS Germline and Tumour |
| M138.3 |
Glial Tumours, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M138.4 |
Glial Tumours, Paediatric, DNA Methylation |
| M139.1 |
Glioblastoma, Paediatric, Multi-target NGS panel, small variant (BRAF, CDKN2A, FGFR4) |
| M139.10 |
Glioblastoma, Paediatric, BRAF-MACF1 FISH/RT-PCR |
| M139.12 |
Glioblastoma, Paediatric, CDKN2A seq |
| M139.13 |
Glioblastoma, Paediatric, FGFR4 seq |
| M139.14 |
Glioblastoma, Paediatric, CDKN2A copy number FISH |
| M139.15 |
Glioblastoma, Paediatric, BRAF rearrangement FISH |
| M139.16 |
Glioblastoma, Paediatric, WGS Germline and Tumour |
| M139.17 |
Glioblastoma, Paediatric, Multi-target NGS panel, copy number variant (CDKN2A) |
| M139.18 |
Glioblastoma, Paediatric, DNA Methylation |
| M139.2 |
Glioblastoma, Paediatric, Multi-target NGS panel, structural variant (BRAF-KIAA1549, BRAF-FXR1, BRAF-AGK, BRAF-AKAP9, BRAF-CCDC6, BRAF-FAM118B, BRAF-GNAI1, BRAF-MACF1, other rearrangements of BRAF, NTRK1, NTRK2, NTRK3) |
| M139.3 |
Glioblastoma, Paediatric, BRAF-KIAA1549 FISH/RT-PCR |
| M139.4 |
Glioblastoma, Paediatric, BRAF-FXR1 FISH/RT-PCR |
| M139.5 |
Glioblastoma, Paediatric, BRAF-AGK FISH/RT-PCR |
| M139.6 |
Glioblastoma, Paediatric, BRAF-AKAP9 FISH/RT-PCR |
| M139.7 |
Glioblastoma, Paediatric, BRAF-CCDC6 FISH/RT-PCR |
| M139.8 |
Glioblastoma, Paediatric, BRAF-FAM118B FISH/RT-PCR |
| M139.9 |
Glioblastoma, Paediatric, BRAF-GNAI1 FISH/RT-PCR |
| M14.1 |
Adrenal Cortical Carcinoma, Multi-target NGS panel, small variant (TP53) |
| M14.2 |
Adrenal Cortical Carcinoma, Multi-target NGS panel, copy number variant (TP53) |
| M14.3 |
Adrenal Cortical Carcinoma, del(17p) TP53 copy number FISH |
| M14.4 |
Adrenal Cortical Carcinoma, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M14.5 |
Adrenal Cortical Carcinoma, DPYD hotspot |
| M143.1 |
Lung, Paediatric, Multi-target NGS panel, small variant (H3-3A, H3-3B) |
| M143.2 |
Lung, Paediatric, H3-3A seq |
| M143.3 |
Lung, Paediatric, H3-3B seq |
| M143.4 |
Lung, Paediatric, WGS Germline and Tumour |
| M143.5 |
Lung, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M145.1 |
Medulloblastoma, Paediatric, Multi-target NGS panel, small variant (ALK, BCOR, PTCH1, PTCH2, PTEN, TERT promoter) |
| M145.10 |
Medulloblastoma, Paediatric, BCOR rearrangement FISH |
| M145.11 |
Medulloblastoma, Paediatric, C19MC copy number FISH |
| M145.12 |
Medulloblastoma, Paediatric, PTEN copy number FISH |
| M145.13 |
Medulloblastoma, Paediatric, WGS Germline and Tumour |
| M145.14 |
Medulloblastoma, Paediatric, Multi-target NGS panel, structural variant (ALK, BCOR, NTRK1, NTRK2, NTRK3) |
| M145.15 |
Medulloblastoma, Paediatric, Multi-target NGS panel, copy number variant (ALK, BCOR, C19MC, PTEN) |
| M145.16 |
Medulloblastoma, Paediatric, DNA Methylation |
| M145.2 |
Medulloblastoma, Paediatric, ALK seq |
| M145.3 |
Medulloblastoma, Paediatric, BCOR seq |
| M145.4 |
Medulloblastoma, Paediatric, PTCH1 seq |
| M145.5 |
Medulloblastoma, Paediatric, PTCH2 seq |
| M145.6 |
Medulloblastoma, Paediatric, TERT promoter seq |
| M145.7 |
Medulloblastoma, Paediatric, ALK copy number FISH |
| M145.8 |
Medulloblastoma, Paediatric, ALK rearrangement FISH |
| M145.9 |
Medulloblastoma, Paediatric, BCOR copy number FISH |
| M146.1 |
Medulloblastoma Group 3, Paediatric, Multi-target NGS panel, small variant (SMARCA4, DDX3X) |
| M146.2 |
Medulloblastoma Group 3, Paediatric, SMARCA4 seq |
| M146.3 |
Medulloblastoma Group 3, Paediatric, DDX3X seq |
| M146.4 |
Medulloblastoma Group 3, Paediatric, SMARCA4 copy number FISH |
| M146.5 |
Medulloblastoma Group 3, Paediatric, PVT1-MYC FISH/RT-PCR |
| M146.6 |
Medulloblastoma Group 3, Paediatric, WGS Germline and Tumour |
| M146.7 |
Medulloblastoma Group 3, Paediatric, Multi-target NGS panel, structural variant (PVT1-MYC, NTRK1, NTRK2, NTRK3) |
| M146.8 |
Medulloblastoma Group 3, Paediatric, Multi-target NGS panel, copy number variant (SMARCA4) |
| M146.9 |
Medulloblastoma Group 3, Paediatric, DNA Methylation |
| M147.1 |
Medulloblastoma Group 3/4, Paediatric, Multi-target NGS panel, small variant (MYCN, EZH2) |
| M147.10 |
Medulloblastoma Group 3/4, Paediatric, DNA Methylation |
| M147.2 |
Medulloblastoma Group 3/4, Paediatric, MYCN seq |
| M147.3 |
Medulloblastoma Group 3/4, Paediatric, EZH2 seq |
| M147.4 |
Medulloblastoma Group 3/4, Paediatric, MYCN copy number FISH |
| M147.5 |
Medulloblastoma Group 3/4, Paediatric, MYC copy number FISH |
| M147.6 |
Medulloblastoma Group 3/4, Paediatric, MYC rearrangement FISH |
| M147.7 |
Medulloblastoma Group 3/4, Paediatric, WGS Germline and Tumour |
| M147.8 |
Medulloblastoma Group 3/4, Paediatric, Multi-target NGS panel, structural variant (MYC, NTRK1, NTRK2, NTRK3) |
| M147.9 |
Medulloblastoma Group 3/4, Paediatric, Multi-target NGS panel, copy number variant (MYCN, MYC) |
| M148.1 |
Medulloblastoma TP53 WT, Paediatric, Multi-target NGS panel, small variant (YAP1, PTCH1) |
| M148.10 |
Medulloblastoma TP53 WT, Paediatric, Multi-target NGS panel, copy number variant (YAP1, PTCH1) |
| M148.11 |
Medulloblastoma TP53 WT, Paediatric, DNA Methylation |
| M148.2 |
Medulloblastoma TP53 WT, Paediatric, YAP1 seq |
| M148.3 |
Medulloblastoma TP53 WT, Paediatric, PTCH1 seq |
| M148.4 |
Medulloblastoma TP53 WT, Paediatric, YAP1-C11orf95 FISH/RT-PCR |
| M148.5 |
Medulloblastoma TP53 WT, Paediatric, YAP1-TFE3 FISH/RT-PCR |
| M148.6 |
Medulloblastoma TP53 WT, Paediatric, YAP1 copy number FISH |
| M148.7 |
Medulloblastoma TP53 WT, Paediatric, PTCH1 copy number FISH |
| M148.8 |
Medulloblastoma TP53 WT, Paediatric, WGS Germline and Tumour |
| M148.9 |
Medulloblastoma TP53 WT, Paediatric, Multi-target NGS panel, structural variant (YAP1-C11orf95, YAP1-TFE3, NTRK1, NTRK2, NTRK3) |
| M149.1 |
Melanotic Tumours, Paediatric, Multi-target NGS panel, small variant (NRAS) |
| M149.2 |
Melanotic Tumours, Paediatric, WGS Germline and Tumour |
| M149.3 |
Melanotic Tumours, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M15.1 |
Head and Neck Squamous Cell Carcinoma, Multi-target NGS panel, small variant (CDKN2A, EGFR, TP53) |
| M15.2 |
Head and Neck Squamous Cell Carcinoma, Multi-target NGS panel, structural variant (RET, NTRK1, NTRK2, NTRK3) |
| M15.3 |
Head and Neck Squamous Cell Carcinoma, Multi-target NGS panel, copy number variant (CDKN2A, TP53) |
| M15.4 |
Head and Neck Squamous Cell Carcinoma, RET rearrangement FISH/RT-PC |
| M15.5 |
Head and Neck Squamous Cell Carcinoma, del(17p) TP53 copy number FISH |
| M15.6 |
Head and Neck Squamous Cell Carcinoma, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M15.7 |
Head and Neck Squamous Cell Carcinoma, DPYD hotspot |
| M150.1 |
Meningioma, Paediatric, Multi-target NGS panel, small variant (SMARCE1, AKT1, NF2, TERT promoter) |
| M150.2 |
Meningioma, Paediatric, SMARCE1 seq |
| M150.3 |
Meningioma, Paediatric, AKT1 seq |
| M150.4 |
Meningioma, Paediatric, NF2 seq |
| M150.5 |
Meningioma, Paediatric, TERT promoter seq |
| M150.6 |
Meningioma, Paediatric, WGS Germline and Tumour |
| M150.7 |
Meningioma, Paediatric, DNA Methylation |
| M150.8 |
Meningioma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M151.1 |
Midline Carcinoma, Paediatric, NUTM1-BRD2 FISH/RT-PCR |
| M151.2 |
Midline Carcinoma, Paediatric, NUTM1-BRD3 FISH/RT-PCR |
| M151.3 |
Midline Carcinoma, Paediatric, NUTM1-BRD4 FISH/RT-PCR |
| M151.4 |
Midline Carcinoma, Paediatric, NUTM1-CIC FISH/RT-PCR |
| M151.5 |
Midline Carcinoma, Paediatric, WGS Germline and Tumour |
| M151.6 |
Midline Carcinoma, Paediatric, Multi-target NGS panel, structural variant (NUTM1-BRD2, NUTM1-BRD3, NUTM1-BRD4, NUTM1-CIC, NTRK1, NTRK2, NTRK3) |
| M152.1 |
Neuroblastoma, Paediatric, SNP Array |
| M152.10 |
Neuroblastoma, Paediatric, 17q rearrangement FISH |
| M152.11 |
Neuroblastoma, Paediatric, 11q copy number FISH |
| M152.12 |
Neuroblastoma, Paediatric, 1p36 copy number FISH |
| M152.13 |
Neuroblastoma, Paediatric, ALK rearrangement FISH |
| M152.14 |
Neuroblastoma, Paediatric, WGS Germline and Tumour |
| M152.15 |
Neuroblastoma, Paediatric, MYCN seq |
| M152.16 |
Neuroblastoma, Paediatric, Multi-target NGS panel, structural variant (17q, ALK, NTRK1, NTRK2, NTRK3) |
| M152.17 |
Neuroblastoma, Paediatric, Multi-target NGS panel, copy number variant (MYCN, ALK, 17q, 11q, 1p36) |
| M152.18 |
Neuroblastoma, Paediatric, DNA Methylation |
| M152.19 |
Neuroblastoma, Paediatric, TERT promoter rearrangement FISH |
| M152.2 |
Neuroblastoma, Paediatric, Multi-target NGS panel, small variant (ALK, ATRX, FGFR1, MYCN, NRAS, PHOX2B, TP53) |
| M152.3 |
Neuroblastoma, Paediatric, ALK seq |
| M152.4 |
Neuroblastoma, Paediatric, FGFR1 seq |
| M152.5 |
Neuroblastoma, Paediatric, PHOX2B seq |
| M152.6 |
Neuroblastoma, Paediatric, TP53 seq |
| M152.7 |
Neuroblastoma, Paediatric, MYCN copy number FISH |
| M152.8 |
Neuroblastoma, Paediatric, ALK copy number FISH |
| M152.9 |
Neuroblastoma, Paediatric, 17q copy number FISH |
| M153.1 |
Nodular Brain Tumour, Paediatric, Multi-target NGS panel, small variant (SMO) |
| M153.2 |
Nodular Brain Tumour, Paediatric, SMO seq |
| M153.3 |
Nodular Brain Tumour, Paediatric, SMO copy number FISH |
| M153.4 |
Nodular Brain Tumour, Paediatric, WGS Germline and Tumor |
| M153.5 |
Nodular Brain Tumour, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M153.6 |
Nodular Brain Tumour, Paediatric, Multi-target NGS panel, copy number variant (SMO) |
| M153.7 |
Nodular Brain Tumour, Paediatric, DNA Methylation |
| M155.1 |
Oligoastrocytoma, Paediatric, Multi-target NGS panel, small variant (KIT) |
| M155.2 |
Oligoastrocytoma, Paediatric, KIT copy number FISH |
| M155.3 |
Oligoastrocytoma, Paediatric, WGS Germline and Tumor |
| M155.4 |
Oligoastrocytoma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M155.5 |
Oligoastrocytoma, Paediatric, Multi-target NGS panel, copy number variant (KIT) |
| M155.6 |
Oligoastrocytoma, Paediatric, DNA Methylation |
| M156.1 |
Oligodendroglioma, Paediatric, Multi-target NGS panel, small variant (RB1, ATRX) |
| M156.10 |
Oligodendroglioma, Paediatric, DNA Methylation |
| M156.2 |
Oligodendroglioma, Paediatric, ATRX seq |
| M156.3 |
Oligodendroglioma, Paediatric, RB1 seq |
| M156.4 |
Oligodendroglioma, Paediatric, Multi-target NGS panel, copy number variant (1p19q, RB1, ATRX) |
| M156.5 |
Oligodendroglioma, Paediatric, 1p19q codel FISH |
| M156.6 |
Oligodendroglioma, Paediatric, RB1 copy number FISH |
| M156.7 |
Oligodendroglioma, Paediatric, ATRX copy number FISH |
| M156.8 |
Oligodendroglioma, Paediatric, WGS Germline and Tumor |
| M156.9 |
Oligodendroglioma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M157.1 |
Thyroid Papillary Carcinoma, Paediatric, Multi-target NGS panel, small variant (RET) |
| M157.2 |
Thyroid Papillary Carcinoma, Paediatric, RET seq |
| M157.3 |
Thyroid Papillary Carcinoma, Paediatric, Multi-target NGS panel, structural variant (RET, NTRK1, NTRK2, NTRK3) |
| M157.4 |
Thyroid Papillary Carcinoma, Paediatric, RET rearrangement FISH/RT-PC |
| M157.5 |
Thyroid Papillary Carcinoma, Paediatric, WGS Germline and Tumour |
| M158.1 |
Pilocytic Astrocytoma, Paediatric, Multi-target NGS panel, small variant (RAF1) |
| M158.2 |
Pilocytic Astrocytoma, Paediatric, RAF1 seq |
| M158.3 |
Pilocytic Astrocytoma, Paediatric, RAF1-SRGAP3 FISH/RT-PCR |
| M158.4 |
Pilocytic Astrocytoma, Paediatric, RAF1-NF1A FISH/RT-PCR |
| M158.5 |
Pilocytic Astrocytoma, Paediatric, WGS Germline and Tumor |
| M158.6 |
Pilocytic Astrocytoma, Paediatric, Multi-target NGS panel, structural variant (RAF1-SRGAP3, RAF1-NF1A, NTRK1, NTRK2, NTRK3) |
| M158.7 |
Pilocytic Astrocytoma, Paediatric, DNA Methylation |
| M159.1 |
Pituitary Blastoma, Paediatric, Multi-target NGS panel, small variant (DICER1) |
| M159.2 |
Pituitary Blastoma, Paediatric, DICER1 seq |
| M159.3 |
Pituitary Blastoma, Paediatric, DICER1 copy number FISH |
| M159.4 |
Pituitary Blastoma, Paediatric, WGS Germline and Tumour |
| M159.5 |
Pituitary Blastoma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M159.6 |
Pituitary Blastoma, Paediatric, Multi-target NGS panel, copy number variant (DICER1) |
| M159.7 |
Pituitary Blastoma, Paediatric, DNA Methylation |
| M16.1 |
Adenoid Cystic Carcinoma, MYB-NFIB FISH/RT-PCR |
| M16.2 |
Adenoid Cystic Carcinoma, Multi-target NGS panel, structural variant (MYB-NFIB, NTRK1, NTRK2, NTRK3) |
| M16.4 |
Adenoid Cystic Carcinoma, DPYD hotspot |
| M160.1 |
Pleomorphic Xanthoastrocytoma, Paediatric, Multi-target NGS panel, small variant (BRAF, H3-3A) |
| M160.10 |
Pleomorphic Xanthoastrocytoma, Paediatric, BRAF-MACF1 FISH/RT-PCR |
| M160.11 |
Pleomorphic Xanthoastrocytoma, Paediatric, H3-3A seq |
| M160.12 |
Pleomorphic Xanthoastrocytoma, Paediatric, KIAA1549 copy number FISH |
| M160.13 |
Pleomorphic Xanthoastrocytoma, Paediatric, BRAF rearrangement FISH |
| M160.14 |
Pleomorphic Xanthoastrocytoma, Paediatric, WGS Germline and Tumour |
| M160.15 |
Pleomorphic Xanthoastrocytoma, Paediatric, Multi-target NGS panel, copy number variant (KIAA1549) |
| M160.16 |
Pleomorphic Xanthoastrocytoma, Paediatric, DNA Methylation |
| M160.2 |
Pleomorphic Xanthoastrocytoma, Paediatric, Multi-target NGS panel, structural variant |
| M160.3 |
Pleomorphic Xanthoastrocytoma, Paediatric, BRAF-KIAA1549 FISH/RT-PCR |
| M160.4 |
Pleomorphic Xanthoastrocytoma, Paediatric, BRAF-FXR1 FISH/RT-PCR |
| M160.5 |
Pleomorphic Xanthoastrocytoma, Paediatric, BRAF-AGK FISH/RT-PCR |
| M160.6 |
Pleomorphic Xanthoastrocytoma, Paediatric, BRAF-AKAP9 FISH/RT-PCR |
| M160.7 |
Pleomorphic Xanthoastrocytoma, Paediatric, BRAF-CCDC6 FISH/RT-PCR |
| M160.8 |
Pleomorphic Xanthoastrocytoma, Paediatric, BRAF-FAM118B FISH/RT-PCR |
| M160.9 |
Pleomorphic Xanthoastrocytoma, Paediatric, BRAF-GNAI1 FISH/RT-PCR |
| M161.1 |
Pleuropulmonary Blastoma, Paediatric, Multi-target NGS panel, small variant (DICER1) |
| M161.2 |
Pleuropulmonary Blastoma, Paediatric, DICER1 seq |
| M161.3 |
Pleuropulmonary Blastoma, Paediatric, DICER1 copy number FISH |
| M161.4 |
Pleuropulmonary Blastoma, Paediatric, WGS Germline and Tumor |
| M161.5 |
Pleuropulmonary Blastoma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M161.6 |
Pleuropulmonary Blastoma, Paediatric, Multi-target NGS panel, copy number variant (DICER1) |
| M162.1 |
Primitive Neuroectodermal Tumours, Paediatric, Multi-target NGS panel, small variant (MSH6, PMS2, PTEN) |
| M162.10 |
Primitive Neuroectodermal Tumours, Paediatric, Multi-target NGS panel, copy number variant (MYC, MSH6, PTEN) |
| M162.11 |
Primitive Neuroectodermal Tumours, Paediatric, DNA Methylation |
| M162.2 |
Primitive Neuroectodermal Tumours, Paediatric, MSH6 seq |
| M162.3 |
Primitive Neuroectodermal Tumours, Paediatric, PMS2 seq |
| M162.4 |
Primitive Neuroectodermal Tumours, Paediatric, MYC copy number FISH |
| M162.5 |
Primitive Neuroectodermal Tumours, Paediatric, MYC rearrangement FISH |
| M162.6 |
Primitive Neuroectodermal Tumours, Paediatric, MSH6 copy number FISH |
| M162.7 |
Primitive Neuroectodermal Tumours, Paediatric, PTEN copy number FISH |
| M162.8 |
Primitive Neuroectodermal Tumours, Paediatric, WGS Germline and Tumor |
| M162.9 |
Primitive Neuroectodermal Tumours, Paediatric, Multi-target NGS panel, structural variant (MYC, NTRK1, NTRK2, NTRK3) |
| M165.1 |
Renal Tumours, Paediatric, Multi-target NGS panel, small variant (CTNNB1, DAXX, ATRX) |
| M165.2 |
Renal Tumours, Paediatric, ATRX seq |
| M165.3 |
Renal Tumours, Paediatric, CTNNB1 seq |
| M165.4 |
Renal Tumours, Paediatric, DAXX seq |
| M165.5 |
Renal Tumours, Paediatric, ATRX copy number FISH |
| M165.6 |
Renal Tumours, Paediatric, WGS Germline and Tumor |
| M165.7 |
Renal Tumours, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M165.8 |
Renal Tumours, Paediatric, Multi-target NGS panel, copy number variant (ATRX) |
| M166.1 |
Retinoblastoma, Paediatric, Multi-target NGS panel, small variant (RB1) |
| M166.2 |
Retinoblastoma, Paediatric, WGS Germline and Tumor |
| M166.3 |
Retinoblastoma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M166.4 |
Retinoblastoma, Paediatric, DNA Methylation |
| M167.1 |
Rhabdoid Tumours, Paediatric, Multi-target NGS panel, small variant (SMARCB1) |
| M167.2 |
Rhabdoid Tumours, Paediatric, SMARCB1 seq |
| M167.3 |
Rhabdoid Tumours, Paediatric, SMARCB1 copy number FISH |
| M167.4 |
Rhabdoid Tumours, Paediatric, WGS Germline and Tumor |
| M167.5 |
Rhabdoid Tumours, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M167.6 |
Rhabdoid Tumours, Paediatric, Multi-target NGS panel, copy number variant (SMARCB1) |
| M168.1 |
Rosette-Forming Glioneuronal Tumour, Paediatric, Multi-target NGS panel, small variant (PIK3CA, FGFR1) |
| M168.2 |
Rosette-Forming Glioneuronal Tumour, Paediatric, FGFR1 seq |
| M168.3 |
Rosette-Forming Glioneuronal Tumour, Paediatric, FGFR1 rearrangement FISH |
| M168.4 |
Rosette-Forming Glioneuronal Tumour, Paediatric, FGFR1 ITD FISH |
| M168.5 |
Rosette-Forming Glioneuronal Tumour, Paediatric, WGS Germline and Tumor |
| M168.6 |
Rosette-Forming Glioneuronal Tumour, Paediatric, Multi-target NGS panel, structural variant (FGFR1, NTRK1, NTRK2, NTRK3) |
| M168.7 |
Rosette-Forming Glioneuronal Tumour, Paediatric, Multi-target NGS panel, copy number variant (FGFR1 ITD) |
| M168.8 |
Rosette-Forming Glioneuronal Tumour, Paediatric, DNA Methylation |
| M169.1 |
Secondary Glioblastoma, Paediatric, Multi-target NGS panel, small variant (IDH1, IDH2) |
| M169.2 |
Secondary Glioblastoma, Paediatric, IDH1 seq |
| M169.3 |
Secondary Glioblastoma, Paediatric, IDH2 seq |
| M169.4 |
Secondary Glioblastoma, Paediatric, WGS Germline and Tumor |
| M169.5 |
Secondary Glioblastoma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M169.6 |
Secondary Glioblastoma, Paediatric, DNA Methylation |
| M17.1 |
Secretory Carcinoma (Salivary Gland), ETV6-NTRK3 FISH/RT-PCR |
| M17.2 |
Secretory Carcinoma (Salivary Gland), Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M17.4 |
Secretory Carcinoma (Salivary Gland), DPYD hotspot |
| M170.1 |
SHH Medulloblastoma, Paediatric, Multi-target NGS panel, small variant (SMO, DDX3X) |
| M170.2 |
SHH Medulloblastoma, Paediatric, SMO seq |
| M170.3 |
SHH Medulloblastoma, Paediatric, DDX3X seq |
| M170.4 |
SHH Medulloblastoma, Paediatric, SMO copy number FISH |
| M170.5 |
SHH Medulloblastoma, Paediatric, DDX3X copy number FISH |
| M170.6 |
SHH Medulloblastoma, Paediatric, WGS Germline and Tumor |
| M170.7 |
SHH Medulloblastoma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M170.8 |
SHH Medulloblastoma, Paediatric, Multi-target NGS panel, copy number variant (SMO, DDX3X) |
| M170.9 |
SHH Medulloblastoma, Paediatric, DNA Methylation |
| M171.1 |
SHH Medulloblastoma, TP53 WT, Paediatric, Multi-target NGS panel, small variant (SUFU, TERT promoter, PTCH1) |
| M171.10 |
SHH Medulloblastoma, TP53 WT, Paediatric, DNA Methylation |
| M171.2 |
SHH Medulloblastoma, TP53 WT, Paediatric, PTCH1 seq |
| M171.3 |
SHH Medulloblastoma, TP53 WT, Paediatric, SUFU seq |
| M171.4 |
SHH Medulloblastoma, TP53 WT, Paediatric, TERT promoter seq |
| M171.5 |
SHH Medulloblastoma, TP53 WT, Paediatric, PTCH1 copy number FISH |
| M171.6 |
SHH Medulloblastoma, TP53 WT, Paediatric, TERT copy number FISH |
| M171.7 |
SHH Medulloblastoma, TP53 WT, Paediatric, WGS Germline and Tumor |
| M171.8 |
SHH Medulloblastoma, TP53 WT, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M171.9 |
SHH Medulloblastoma, TP53 WT, Paediatric, Multi-target NGS panel, copy number variant (PTCH1, TERT) |
| M172.1 |
SHH Medulloblastoma, TP53 MUTANT, Paediatric, Multi-target NGS panel, small variant (TP53, MYCN) |
| M172.2 |
SHH Medulloblastoma, TP53 MUTANT, Paediatric, TP53 seq |
| M172.3 |
SHH Medulloblastoma, TP53 MUTANT, Paediatric, MYCN seq |
| M172.4 |
SHH Medulloblastoma, TP53 MUTANT, Paediatric, del(17p) TP53 copy number FISH |
| M172.5 |
SHH Medulloblastoma, TP53 MUTANT, Paediatric, MYCN copy number FISH |
| M172.6 |
SHH Medulloblastoma, TP53 MUTANT, Paediatric, WGS Germline and Tumor |
| M172.7 |
SHH Medulloblastoma, TP53 MUTANT, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M172.8 |
SHH Medulloblastoma, TP53 MUTANT, Paediatric, Multi-target NGS panel, copy number variant (TP53, MYCN) |
| M172.9 |
SHH Medulloblastoma, TP53 MUTANT, Paediatric, DNA Methylation |
| M173.1 |
t(6;11) Translocation-Associated Renal Cell Carcinoma, Paediatric, TFEB-MALAT1 FISH/RT-PCR |
| M173.2 |
t(6;11) Translocation-Associated Renal Cell Carcinoma, Paediatric, WGS Germline and Tumor |
| M173.3 |
t(6;11) Translocation-Associated Renal Cell Carcinoma, Paediatric, Multi-target NGS panel, structural variant (TFEB-MALAT1, NTRK1, NTRK2, NTRK3) |
| M174.1 |
Testicular, Paediatric, Multi-target NGS panel, small variant (PRKAR1A) |
| M174.2 |
Testicular, Paediatric, PRKAR1A seq |
| M174.3 |
Testicular, Paediatric, WGS Germline and Tumor |
| M174.4 |
Testicular, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M178.1 |
Wilms Tumours, Paediatric, Multi-target NGS panel, small variant (DROSHA) |
| M178.2 |
Wilms Tumours, Paediatric, DROSHA seq |
| M178.3 |
Wilms Tumours, Paediatric, WGS Germline and Tumor |
| M178.4 |
Wilms Tumours, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M179.1 |
WNT Medulloblastoma, Paediatric, Multi-target NGS panel, small variant (DDX3X, CTNNB1, SMARCA4, TP53) |
| M179.10 |
WNT Medulloblastoma, Paediatric, Multi-target NGS panel, copy number variant (SMARCA4, TP53) |
| M179.11 |
WNT Medulloblastoma, Paediatric, DNA Methylation |
| M179.2 |
WNT Medulloblastoma, Paediatric, DDX3X seq |
| M179.3 |
WNT Medulloblastoma, Paediatric, CTNNB1 seq |
| M179.4 |
WNT Medulloblastoma, Paediatric, SMARCA4 seq |
| M179.5 |
WNT Medulloblastoma, Paediatric, TP53 seq |
| M179.6 |
WNT Medulloblastoma, Paediatric, SMARCA4 copy number FISH |
| M179.7 |
WNT Medulloblastoma, Paediatric, del(17p) TP53 copy number FISH |
| M179.8 |
WNT Medulloblastoma, Paediatric, WGS Germline and Tumor |
| M179.9 |
WNT Medulloblastoma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M18.1 |
Renal Cell Carcinoma, Adult, TFE3 rearrangement FISH/RT-PCR |
| M18.2 |
Renal Cell Carcinoma,Adult, Multi-target NGS panel small variant (FH, SDHA, SDHB, SDHC, SDHD, VHL, ELOC (TCEB-1), TSC1/2, MET, BRAF) |
| M18.3 |
Renal Cell Carcinoma, Adult, Chromosome 3 FISH |
| M18.4 |
Renal Cell Carcinoma, Adult, Chromosome 8 FISH |
| M18.5 |
Renal Cell Carcinoma, Adult, Chromosome 7 & 17 FISH |
| M18.6 |
Renal Cell Carcinoma, Adult, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3, TFE3, TFEB) |
| M18.7 |
Renal Cell Carcinoma, Adult, TFEB rearrangement FISH/RT-PCR |
| M180.1 |
Xp11.2 Translocation-Associated Renal Cell Carcinoma, Paediatric, Multi-target NGS panel, small variant (TFE3) |
| M180.2 |
Xp11.2 Translocation-Associated Renal Cell Carcinoma, Paediatric, TFE3 seq |
| M180.3 |
Xp11.2 Translocation-Associated Renal Cell Carcinoma, Paediatric, TFE3-ASPSCR1 FISH/RT-PCR |
| M180.4 |
Xp11.2 Translocation-Associated Renal Cell Carcinoma, Paediatric, TFE3-MITF FISH/RT-PCR |
| M180.5 |
Xp11.2 Translocation-Associated Renal Cell Carcinoma, Paediatric, TFE3-PRCC FISH/RT-PCR |
| M180.6 |
Xp11.2 Translocation-Associated Renal Cell Carcinoma, Paediatric, WGS Germline and Tumor |
| M180.7 |
Xp11.2 Translocation-Associated Renal Cell Carcinoma, Paediatric, Multi-target NGS panel, structural variant (TFE3-ASPSCR1, TFE3-MITF, TFE3-PRCC, NTRK1, NTRK2, NTRK3) |
| M181.1 |
Hairy Cell Leukaemia, Non-Classical Variant, Multi-target NGS panel, small variant (MAP2K1) |
| M181.4 |
Hairy Cell Leukaemia, Non-Classical Variant, Ig gene hypermutation detection multiplex seq |
| M181.5 |
Hairy Cell Leukaemia, Non-Classical Variant, Ig gene hypermutation detection NGS |
| M182.1 |
ALK Positive Anaplastic Large Cell Lymphoma, t(2;5)(p23;q35) ALK-NPM1 FISH/RT-PCR |
| M182.2 |
ALK Positive Anaplastic Large Cell Lymphoma, ALK rearrangement FISH |
| M182.3 |
ALK Positive Anaplastic Large Cell Lymphoma, WGS Germline and Tumor |
| M182.4 |
ALK Positive Anaplastic Large Cell Lymphoma, Multi-target NGS panel, structural variant (ALK-NPM1, other ALK rearrangements) |
| M182.5 |
ALK Positive Anaplastic Large Cell Lymphoma, WGS Tumour First |
| M182.6 |
ALK Positive Anaplastic Large Cell Lymphoma, WGS Follow-up Germline |
| M183.1 |
Diffuse Midline Glioma, Paediatric, Multi-target NGS panel, small variant (H3-3A, NF1, TERT promoter) |
| M183.2 |
Diffuse Midline Glioma, Paediatric, MYCN copy number FISH |
| M183.3 |
Diffuse Midline Glioma, Paediatric, MYC copy number FISH |
| M183.4 |
Diffuse Midline Glioma, Paediatric, MYC rearrangement FISH |
| M183.5 |
Diffuse Midline Glioma, Paediatric, WGS Germline and Tumor |
| M183.6 |
Diffuse Midline Glioma, Paediatric, 1p19q codel FISH/RT-PCR |
| M183.7 |
Diffuse Midline Glioma, Paediatric, DNA Methylation |
| M183.8 |
Diffuse Midline Glioma, Paediatric, Multi-target NGS panel, copy number variant (1p, 19q, MYC, MYCN) |
| M183.9 |
Diffuse Midline Glioma, Paediatric, Multi-target NGS panel, structural variant (MYC, NTRK1, NTRK2, NTRK3) |
| M184.1 |
Glioma, Paediatric, Multi-target NGS panel, small variant (H3-3B, H3C2, H3C3, H3C14, IDH1, IDH2, TP53, VHL) |
| M184.2 |
Glioma, Paediatric, WGS Germline and Tumor |
| M184.3 |
Glioma, Paediatric, IDH1 hotspot |
| M184.4 |
Glioma, Paediatric, IDH2 hotspot |
| M184.5 |
Glioma, Paediatric, 1p19q codel FISH/RT-PCR |
| M184.6 |
Glioma, Paediatric, DNA Methylation |
| M184.7 |
Glioma, Paediatric, Multi-target NGS panel, copy number variant (1p, 19q) |
| M184.8 |
Glioma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M185.1 |
High Grade Glioma, Paediatric, Multi-target NGS panel, small variant (CDKN2B) |
| M185.2 |
High Grade Glioma, Paediatric, WGS Germline and Tumor |
| M185.3 |
High Grade Glioma, Paediatric, 1p19q codel FISH/RT-PCR |
| M185.4 |
High Grade Glioma, Paediatric, DNA Methylation |
| M185.5 |
High Grade Glioma, Paediatric, Multi-target NGS panel, copy number variant (1p, 19q) |
| M186.1 |
Low Grade Glioma, Paediatric, Multi-target NGS panel, small variant (TSC1, TSC2, IDH1, IDH2, FGFR1) |
| M186.2 |
Low Grade Glioma, Paediatric, WGS Germline and Tumor |
| M186.3 |
Low Grade Glioma, Paediatric, IDH1 hotspot |
| M186.4 |
Low Grade Glioma, Paediatric, IDH2 hotspot |
| M186.5 |
Low Grade Glioma, Paediatric, 1p19q codel FISH/RT-PCR |
| M186.6 |
Low Grade Glioma, Paediatric, DNA Methylation |
| M186.7 |
Low Grade Glioma, Paediatric, Multi-target NGS panel, copy number variant (1p, 19q) |
| M186.8 |
Low Grade Glioma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M187.1 |
Uveal melanoma, 1p, 3, 6, 8 MLPA |
| M187.2 |
Uveal melanoma, BRAF hotspot |
| M187.3 |
Uveal melanoma, Multi-target NGS panel, small variant (BRAF, NRAS, NF1) |
| M187.4 |
Uveal melanoma, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M189.1 |
Brain Tumour, No Further Morphological Classification, Paediatric, Multi-target NGS panel, small variant (IDH1, IDH2, BRAF, H3C2, H3C3, H3C14, H3-3A, H3-3B, TERT promoter, TP53, VHL, YAP1, SMARCA4, SMARCB1, DDX3X, CTNNB1) |
| M189.10 |
Brain Tumour, No Further Morphological Classification, Paediatric, YAP1 rearrangement FISH/RT-PCR |
| M189.11 |
Brain Tumour, No Further Morphological Classification, Paediatric, SNP Array |
| M189.12 |
Brain Tumour, No Further Morphological Classification, Paediatric, C19MC copy number FISH |
| M189.13 |
Brain Tumour, No Further Morphological Classification, Paediatric, SMARCA4 copy number FISH |
| M189.14 |
Brain Tumour, No Further Morphological Classification, Paediatric, SMARCB1 copy number FISH |
| M189.15 |
Brain Tumour, No Further Morphological Classification, Paediatric, YAP1 copy number FISH |
| M189.16 |
Brain Tumour, No Further Morphological Classification, Paediatric, MGMT promoter hyperMethylation |
| M189.17 |
Brain Tumour, No Further Morphological Classification, Paediatric, WGS Germline and Tumor |
| M189.18 |
Brain Tumour, No Further Morphological Classification, Paediatric, IDH1 hotspot |
| M189.19 |
Brain Tumour, No Further Morphological Classification, Paediatric, IDH2 hotspot |
| M189.2 |
Brain Tumour, No Further Morphological Classification, Paediatric, Multi-target NGS panel, structural variant (CIC, BCOR, BCOR-CCNB3, C11orf95-RELA, YAP1-C11orf95, YAP1-TFE3, EWSR1, MN1, RELA, YAP1, NTRK1, NTRK2, NTRK3) |
| M189.20 |
Brain Tumour, No Further Morphological Classification, Paediatric, DNA Methylation |
| M189.21 |
Brain Tumour, No Further Morphological Classification, Paediatric, Multi-target NGS panel, copy number variant (C19MC, SMARCA4, SMARCB1, YAP1) |
| M189.3 |
Brain Tumour, No Further Morphological Classification, Paediatric, BCOR-CCNB3 RT-PCR |
| M189.4 |
Brain Tumour, No Further Morphological Classification, Paediatric, C11orf95-RELA FISH/RT-PCR |
| M189.5 |
Brain Tumour, No Further Morphological Classification, Paediatric, YAP1-C11orf95 FISH/RT-PCR |
| M189.6 |
Brain Tumour, No Further Morphological Classification, Paediatric, YAP1-TFE3 FISH/RT-PCR |
| M189.7 |
Brain Tumour, No Further Morphological Classification, Paediatric, EWSR1 rearrangement FISH |
| M189.8 |
Brain Tumour, No Further Morphological Classification, Paediatric, MN1 rearrangement FISH |
| M189.9 |
Brain Tumour, No Further Morphological Classification, Paediatric, RELA rearrangement FISH/RT-PCR |
| M190.1 |
Embryonal Tumour Differential, Adult and Paediatric, Multi-target NGS panel, small variant (CDKN2A, DICER1, RB1, YAP1, SMARCA4, SMARCB1, MSH6, PMS2, PTEN, ATRX) |
| M190.10 |
Embryonal Tumour Differential, Adult and Paediatric, BRAF-KIAA1549 FISH/RT-PCR |
| M190.11 |
Embryonal Tumour Differential, Adult and Paediatric, BRAF-MACF1 FISH/RT-PCR |
| M190.12 |
Embryonal Tumour Differential, Adult and Paediatric, BRAF rearrangement FISH |
| M190.13 |
Embryonal Tumour Differential, Adult and Paediatric, C11orf95-RELA FISH/RT-PCR |
| M190.14 |
Embryonal Tumour Differential, Adult and Paediatric, RELA rearrangement FISH/RT-PCR |
| M190.15 |
Embryonal Tumour Differential, Adult and Paediatric, TTYH1-C19MC FISH/RT-PCR |
| M190.16 |
Embryonal Tumour Differential, Adult and Paediatric, YAP1 rearrangement FISH/RT-PCR |
| M190.17 |
Embryonal Tumour Differential, Adult and Paediatric, YAP1-C11orf95 FISH/RT-PCR |
| M190.18 |
Embryonal Tumour Differential, Adult and Paediatric, YAP1-TFE3 FISH/RT-PCR |
| M190.19 |
Embryonal Tumour Differential, Adult and Paediatric, MYC rearrangement FISH |
| M190.2 |
Embryonal Tumour Differential, Adult and Paediatric, Multi-target NGS panel, structural variant |
| M190.20 |
Embryonal Tumour Differential, Adult and Paediatric, MN1 rearrangement FISH |
| M190.21 |
Embryonal Tumour Differential, Adult and Paediatric, SNP Array |
| M190.22 |
Embryonal Tumour Differential, Adult and Paediatric, C19MC copy number FISH |
| M190.23 |
Embryonal Tumour Differential, Adult and Paediatric, DICER1 copy number FISH |
| M190.24 |
Embryonal Tumour Differential, Adult and Paediatric, MSH6 copy number FISH |
| M190.25 |
Embryonal Tumour Differential, Adult and Paediatric, MYC copy number FISH |
| M190.26 |
Embryonal Tumour Differential, Adult and Paediatric, PTEN (10q23) copy number FISH/RT-PCR |
| M190.27 |
Embryonal Tumour Differential, Adult and Paediatric, SMARCA4 copy number FISH |
| M190.28 |
Embryonal Tumour Differential, Adult and Paediatric, SMARCB1 copy number FISH |
| M190.3 |
Embryonal Tumour Differential, Adult and Paediatric, BCOR-CCNB3 RT-PCR |
| M190.30 |
Embryonal Tumour Differential, Adult and Paediatric, WGS Germline and Tumor |
| M190.31 |
Embryonal Tumour Differential, Adult and Paediatric, DNA Methylation |
| M190.32 |
Embryonal Tumour Differential, Adult and Paediatric, Multi-target NGS panel, copy number variant (C19MC, DICER1, MSH6, MYC, PTEN, SMARCA4, SMARCB1) |
| M190.4 |
Embryonal Tumour Differential, Adult and Paediatric, BRAF-AGK FISH/RT-PCR |
| M190.5 |
Embryonal Tumour Differential, Adult and Paediatric, BRAF-AKAP9 FISH/RT-PCR |
| M190.6 |
Embryonal Tumour Differential, Adult and Paediatric, BRAF-CCDC6 FISH/RT-PCR |
| M190.7 |
Embryonal Tumour Differential, Adult and Paediatric, BRAF-FAM118B FISH/RT-PCR |
| M190.8 |
Embryonal Tumour Differential, Adult and Paediatric, BRAF-FRX1 FISH/RT-PCR |
| M190.9 |
Embryonal Tumour Differential, Adult and Paediatric, BRAF-GNAI1 FISH/RT-PCR |
| M191.1 |
Low Grade Intrinsic Brain Tumour Differential, Adult, Multi-target NGS panel, small variant (IDH1, IDH2, ATRX, H3-3A, H3-3B, H3C2, H3C3, H3C14, BRAF, TERT promoter, CDKN2B, TP53, VHL, NF1) |
| M191.10 |
Low Grade Intrinsic Brain Tumour Differential, Adult, BRAF rearrangement FISH |
| M191.11 |
Low Grade Intrinsic Brain Tumour Differential, Adult, Multi-target NGS panel, copy number variant (1p, 19q, EGFR, CDKN2A, PTEN) |
| M191.12 |
Low Grade Intrinsic Brain Tumour Differential, Adult, 1p19q codel FISH/RT-PCR |
| M191.13 |
Low Grade Intrinsic Brain Tumour Differential, Adult, CDKN2A copy number FISH |
| M191.14 |
Low Grade Intrinsic Brain Tumour Differential, Adult, EGFR copy number FISH |
| M191.15 |
Low Grade Intrinsic Brain Tumour Differential, Adult, EGFRvIII RT-PCR |
| M191.16 |
Low Grade Intrinsic Brain Tumour Differential, Adult, PTEN (10q23) copy number FISH/RT-PCR |
| M191.17 |
Low Grade Intrinsic Brain Tumour Differential, Adult, MGMT promoter hyperMethylation |
| M191.18 |
Low Grade Intrinsic Brain Tumour Differential, Adult, IDH1 hotspot |
| M191.19 |
Low Grade Intrinsic Brain Tumour Differential, Adult, IDH2 hotspot |
| M191.2 |
Low Grade Intrinsic Brain Tumour Differential, Adult, BRAF-AGK FISH/RT-PCR |
| M191.20 |
Low Grade Intrinsic Brain Tumour Differential, Adult, DNA Methylation |
| M191.21 |
Low Grade Intrinsic Brain Tumour Differential, Adult, Multi-target NGS panel, structural variant |
| M191.22 |
Low Grade Intrinsic Brain Tumour Differential, Adult, WGS Germline and Tumor |
| M191.3 |
Low Grade Intrinsic Brain Tumour Differential, Adult, BRAF-AKAP9 FISH/RT-PCR |
| M191.4 |
Low Grade Intrinsic Brain Tumour Differential, Adult, BRAF-CCDC6 FISH/RT-PCR |
| M191.5 |
Low Grade Intrinsic Brain Tumour Differential, Adult, BRAF-FAM118B FISH/RT-PCR |
| M191.6 |
Low Grade Intrinsic Brain Tumour Differential, Adult, BRAF-FXR1 FISH/RT-PCR |
| M191.7 |
Low Grade Intrinsic Brain Tumour Differential, Adult, BRAF-GNAI1 FISH/RT-PCR |
| M191.8 |
Low Grade Intrinsic Brain Tumour Differential, Adult, BRAF-KIAA1549 FISH/RT-PCR |
| M191.9 |
Low Grade Intrinsic Brain Tumour Differential, Adult, BRAF-MACF1 FISH/RT-PCR |
| M192.1 |
High Grade Intrinsic Brain Tumour Differential, Adult, Multi-target NGS panel, small variant (IDH1, IDH2, ATRX, H3-3A, H3-3B, H3C2, H3C3, H3C14, BRAF, TERT promoter, CDKN2B, TP53, VHL, NF1) |
| M192.10 |
High Grade Intrinsic Brain Tumour Differential, Adult, BRAF rearrangement FISH |
| M192.11 |
High Grade Intrinsic Brain Tumour Differential, Adult, Multi-target NGS panel, copy number variant (EGFR) |
| M192.12 |
High Grade Intrinsic Brain Tumour Differential, Adult, 1p19q codel FISH/RT-PCR |
| M192.13 |
High Grade Intrinsic Brain Tumour Differential, Adult, CDKN2A copy number FISH |
| M192.14 |
High Grade Intrinsic Brain Tumour Differential, Adult, EGFR copy number FISH |
| M192.15 |
High Grade Intrinsic Brain Tumour Differential, Adult, EGFRvIII RT-PCR |
| M192.16 |
High Grade Intrinsic Brain Tumour Differential, Adult, PTEN (10q23) copy number FISH/RT-PCR |
| M192.17 |
High Grade Intrinsic Brain Tumour Differential, Adult, MGMT promoter hyperMethylation |
| M192.18 |
High Grade Intrinsic Brain Tumour Differential, Adult, IDH1 hotspot |
| M192.19 |
High Grade Intrinsic Brain Tumour Differential, Adult, IDH2 hotspot |
| M192.2 |
High Grade Intrinsic Brain Tumour Differential, Adult, BRAF-AGK FISH/RT-PCR |
| M192.20 |
High Grade Intrinsic Brain Tumour Differential, Adult, DNA Methylation |
| M192.21 |
High Grade Intrinsic Brain Tumour Differential, Adult, Multi-target NGS panel, structural variant |
| M192.22 |
High Grade Intrinsic Brain Tumour Differential, Adult, Multi-target NGS panel, copy number variant (1p, 19q, EGFR, CDKN2A, PTEN) |
| M192.23 |
High Grade Intrinsic Brain Tumour Differential, Adult, WGS Germline and Tumor |
| M192.3 |
High Grade Intrinsic Brain Tumour Differential, Adult, BRAF-AKAP9 FISH/RT-PCR |
| M192.4 |
High Grade Intrinsic Brain Tumour Differential, Adult, BRAF-CCDC6 FISH/RT-PCR |
| M192.5 |
High Grade Intrinsic Brain Tumour Differential, Adult, BRAF-FAM118B FISH/RT-PCR |
| M192.6 |
High Grade Intrinsic Brain Tumour Differential, Adult, BRAF-FXR1 FISH/RT-PCR |
| M192.7 |
High Grade Intrinsic Brain Tumour Differential, Adult, BRAF-GNAI1 FISH/RT-PCR |
| M192.8 |
High Grade Intrinsic Brain Tumour Differential, Adult, BRAF-KIAA1549 FISH/RT-PCR |
| M192.9 |
High Grade Intrinsic Brain Tumour Differential, Adult, BRAF-MACF1 FISH/RT-PCR |
| M193.1 |
Unable To Grade Intrinsic Brain Tumour, Adult, Multi-target NGS panel, small variant (IDH1, IDH2, ATRX, H3-3A, H3-3B, H3C2, H3C3, H3C14, BRAF, TERT promoter, CDKN2B, TP53, VHL, NF1) |
| M193.10 |
Unable To Grade Intrinsic Brain Tumour, Adult, BRAF rearrangement FISH |
| M193.11 |
Unable To Grade Intrinsic Brain Tumour, Adult, Multi-target NGS panel, copy number variant (EGFR) |
| M193.12 |
Unable To Grade Intrinsic Brain Tumour, Adult, 1p19q codel FISH/RT-PCR |
| M193.13 |
Unable To Grade Intrinsic Brain Tumour, Adult, CDKN2A copy number FISH |
| M193.14 |
Unable To Grade Intrinsic Brain Tumour, Adult, EGFR copy number FISH |
| M193.15 |
Unable To Grade Intrinsic Brain Tumour, Adult, EGFRvIII RT-PCR |
| M193.16 |
Unable To Grade Intrinsic Brain Tumour, Adult, PTEN (10q23) copy number FISH/RT-PCR |
| M193.17 |
Unable To Grade Intrinsic Brain Tumour, Adult, MGMT promoter hyperMethylation |
| M193.18 |
Unable To Grade Intrinsic Brain Tumour, Adult, IDH1 hotspot |
| M193.19 |
Unable To Grade Intrinsic Brain Tumour, Adult, IDH2 hotspot |
| M193.2 |
Unable To Grade Intrinsic Brain Tumour, Adult, BRAF-AGK FISH/RT-PCR |
| M193.20 |
Unable To Grade Intrinsic Brain Tumour, Adult, DNA Methylation |
| M193.21 |
Unable To Grade Intrinsic Brain Tumour, Adult, Multi-target NGS panel, structural variant |
| M193.22 |
Unable To Grade Intrinsic Brain Tumour, Adult, Multi-target NGS panel, copy number variant (1p, 19q, EGFR, CDKN2A, PTEN) |
| M193.23 |
Unable To Grade Intrinsic Brain Tumour, Adult, WGS Germline and Tumor |
| M193.3 |
Unable To Grade Intrinsic Brain Tumour, Adult, BRAF-AKAP9 FISH/RT-PCR |
| M193.4 |
Unable To Grade Intrinsic Brain Tumour, Adult, BRAF-CCDC6 FISH/RT-PCR |
| M193.5 |
Unable To Grade Intrinsic Brain Tumour, Adult, BRAF-FAM118B FISH/RT-PCR |
| M193.6 |
Unable To Grade Intrinsic Brain Tumour, Adult, BRAF-FXR1 FISH/RT-PCR |
| M193.7 |
Unable To Grade Intrinsic Brain Tumour, Adult, BRAF-GNAI1 FISH/RT-PCR |
| M193.8 |
Unable To Grade Intrinsic Brain Tumour, Adult, BRAF-KIAA1549 FISH/RT-PCR |
| M193.9 |
Unable To Grade Intrinsic Brain Tumour, Adult, BRAF-MACF1 FISH/RT-PCR |
| M194.1 |
Medulloblastoma all Subtypes, Multi-target NGS panel, small variant (ALK, BCOR, CTNNB1, DDX3X, DDX3X, EZH2, MYCN, PTCH1, PTCH2, PTEN, SMARCA4, SMO, SUFU, TERT promoter, TP53, YAP1) |
| M194.10 |
Medulloblastoma all Subtypes, BCOR copy number FISH |
| M194.11 |
Medulloblastoma all Subtypes, C19MC copy number FISH |
| M194.12 |
Medulloblastoma all Subtypes, DDX3X copy number FISH |
| M194.13 |
Medulloblastoma all Subtypes, MYC copy number FISH |
| M194.14 |
Medulloblastoma all Subtypes, MYCN copy number FISH |
| M194.15 |
Medulloblastoma all Subtypes, PTCH1 copy number FISH |
| M194.16 |
Medulloblastoma all Subtypes, PTEN (10q23) copy number FISH/RT-PCR |
| M194.17 |
Medulloblastoma all Subtypes, SMARCA4 copy number FISH |
| M194.18 |
Medulloblastoma all Subtypes, SMO copy number FISH |
| M194.19 |
Medulloblastoma all Subtypes, TERT copy number FISH |
| M194.2 |
Medulloblastoma all Subtypes, ALK rearrangement FISH |
| M194.20 |
Medulloblastoma all Subtypes, del(17p) TP53 copy number FISH |
| M194.21 |
Medulloblastoma all Subtypes, YAP1 copy number FISH |
| M194.22 |
Medulloblastoma all Subtypes, WGS Germline and Tumor |
| M194.23 |
Medulloblastoma all Subtypes, DNA Methylation |
| M194.24 |
Medulloblastoma all Subtypes, Multi-target NGS panel, structural variant (ALK, BCOR, MYC, PVT1-MYC, YAP1-C11orf95, YAP1-TFE3, NTRK1, NTRK2, NTRK3) |
| M194.25 |
Medulloblastoma all Subtypes, Multi-target NGS panel, copy number variant (ALK, BCOR, C19MC, DDX3X, MYC, MYCN, PTCH1, PTEN, SMARCA4, SMO, TERT, TP53, YAP1) |
| M194.3 |
Medulloblastoma all Subtypes, BCOR rearrangement FISH |
| M194.4 |
Medulloblastoma all Subtypes, MYC rearrangement FISH |
| M194.5 |
Medulloblastoma all Subtypes, PVT1-MYC FISH/RT-PCR |
| M194.6 |
Medulloblastoma all Subtypes, YAP1-C11orf95 FISH/RT-PCR |
| M194.7 |
Medulloblastoma all Subtypes, YAP1-TFE3 FISH/RT-PCR |
| M194.8 |
Medulloblastoma all Subtypes, SNP Array |
| M194.9 |
Medulloblastoma all Subtypes, ALK copy number FISH |
| M195.1 |
Craniopharyngioma, Adult and Paediatric, Multi-target NGS panel, small variant (BRAF, CTNNB1) |
| M195.2 |
Craniopharyngioma, Adult and Paediatric, MGMT promoter hyperMethylation |
| M195.3 |
Craniopharyngioma, Adult and Paediatric, WGS Germline and Tumor |
| M195.4 |
Craniopharyngioma, Adult and Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M195.5 |
Craniopharyngioma, Adult and Paediatric, DNA Methylation |
| M196.1 |
Bone Forming Soft Tissue Tumour Differential, MDM2 copy number FISH |
| M196.2 |
Bone Forming Soft Tissue Tumour Differential, USP6 rearrangement FISH |
| M196.3 |
Bone Forming Soft Tissue Tumour Differential, WGS Germline and Tumor |
| M196.4 |
Bone Forming Soft Tissue Tumour Differential, Multi-target NGS panel, structural variant (USP6, NTRK1, NTRK2, NTRK3) |
| M196.5 |
Bone Forming Soft Tissue Tumour Differential, Multi-target NGS panel, copy number variant (MDM2) |
| M197.1 |
Round Cell Sarcoma of Soft Tissue Differential, Multi-target NGS panel, structural variant (BCOR, CIC, DDIT3, EWSR1, FOXO1, WT1, BCOR-CCNB3, HEY1-NCOA2, PAX3-FOXO1, PAX7-FOXO1, NTRK1, NTRK2, NTRK3) |
| M197.10 |
Round Cell Sarcoma of Soft Tissue Differential, WGS Germline and Tumor |
| M197.2 |
Round Cell Sarcoma of Soft Tissue Differential, DDIT3 rearrangement FISH or RT-PCR |
| M197.3 |
Round Cell Sarcoma of Soft Tissue Differential, EWSR1 rearrangement FISH or RT-PCR |
| M197.4 |
Round Cell Sarcoma of Soft Tissue Differential, FOXO1 rearrangement FISH or RT-PCR |
| M197.5 |
Round Cell Sarcoma of Soft Tissue Differential, WT1 rearrangement FISH or RT-PCR |
| M197.6 |
Round Cell Sarcoma of Soft Tissue Differential, BCOR-CCNB3 RT-PCR |
| M197.7 |
Round Cell Sarcoma of Soft Tissue Differential, HEY1-NCOA2 RT-PCR |
| M197.8 |
Round Cell Sarcoma of Soft Tissue Differential, PAX3-FOXO1 rearrangement FISH or RT-PCR |
| M197.9 |
Round Cell Sarcoma of Soft Tissue Differential, PAX7-FOXO1 rearrangement FISH or RT-PCR |
| M198.1 |
Vascular Soft Tissue Tumour Differential, MYC copy number FISH |
| M198.2 |
Vascular Soft Tissue Tumour Differential, SERPINE1-FOSB FISH/RT-PCR |
| M198.3 |
Vascular Soft Tissue Tumour Differential, WWTR1-CAMTA1 RT-PCR |
| M198.4 |
Vascular Soft Tissue Tumour Differential, WGS Germline and Tumor |
| M198.5 |
Vascular Soft Tissue Tumour Differential, Multi-target NGS panel, structural variant (SERPINE1-FOSB, WWTR1-CAMTA1, NTRK1, NTRK2, NTRK3) |
| M198.6 |
Vascular Soft Tissue Tumour Differential, Multi-target NGS panel, copy number variant (MYC) |
| M199.1 |
Spindle Cell Soft Tissue Tumour Differential, Multi-target NGS panel, small variant (APC, CTNNB1) |
| M199.10 |
Spindle Cell Soft Tissue Tumour Differential, TPM4-ALK FISH/RT-PCR |
| M199.11 |
Spindle Cell Soft Tissue Tumour Differential, ETV6-NTRK3 RT-PCR |
| M199.12 |
Spindle Cell Soft Tissue Tumour Differential, WGS Germline and Tumor |
| M199.13 |
Spindle Cell Soft Tissue Tumour Differential, Multi-target NGS panel, copy number variant (MDM2) |
| M199.2 |
Spindle Cell Soft Tissue Tumour Differential, Multi-target NGS panel, structural variant (ALK, BCOR, CIC, EWSR1, FUS, SS18, USP6, COL1A1-PDGFB, TPM3-ALK, TPM4-ALK, ETV6-NTRK3, NTRK1, NTRK2, NTRK3) |
| M199.3 |
Spindle Cell Soft Tissue Tumour Differential, EWSR1 rearrangement FISH or RT-PCR |
| M199.4 |
Spindle Cell Soft Tissue Tumour Differential, FUS rearrangement FISH |
| M199.5 |
Spindle Cell Soft Tissue Tumour Differential, MDM2 copy number FISH |
| M199.6 |
Spindle Cell Soft Tissue Tumour Differential, SS18 rearrangement FISH or RT-PCR |
| M199.7 |
Spindle Cell Soft Tissue Tumour Differential, USP6 rearrangement FISH |
| M199.8 |
Spindle Cell Soft Tissue Tumour Differential, COL1A1-PDGFB rearrangement FISH |
| M199.9 |
Spindle Cell Soft Tissue Tumour Differential, TPM3-ALK FISH/RT-PCR |
| M2.1 |
Ovarian Carcinoma, Multi-target NGS panel, small variant (BRCA1, BRCA2, SMARCA4) |
| M2.3 |
Ovarian Carcinoma, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M2.5 |
Ovarian Carcinoma, HRD status (either positive for BRCA 1 and/or 2, or HRD positive) |
| M20.1 |
Anaplastic Astrocytoma, Paediatric, Multi-target NGS panel, small variant (BRAF) |
| M20.2 |
Anaplastic Astrocytoma, Paediatric, BRAF-KIAA1549 FISH/RT-PCR |
| M20.3 |
Anaplastic Astrocytoma, Paediatric, WGS Germline and Tumor |
| M20.4 |
Anaplastic Astrocytoma, Paediatric, DNA Methylation |
| M20.5 |
Anaplastic Astrocytoma, Paediatric, Multi-target NGS panel, structural variant (BRAF-KIAA1549, NTRK1, NTRK2, NTRK3) |
| M200.1 |
Myxoid Soft Tissue Tumour Differential, Multi-target NGS panel, structural variant (BCOR, DDIT3, FUS, NR4A3, TGFBR3-OGA, BCOR-CCNB3, NTRK1, NTRK2, NTRK3) |
| M200.2 |
Myxoid Soft Tissue Tumour Differential, DDIT3 rearrangement FISH or RT-PCR |
| M200.3 |
Myxoid Soft Tissue Tumour Differential, FUS rearrangement FISH or RT-PCR |
| M200.4 |
Myxoid Soft Tissue Tumour Differential, NR4A3 rearrangement FISH or RT-PCR |
| M200.5 |
Myxoid Soft Tissue Tumour Differential, TGFBR3-OGA FISH/RT-PCR |
| M200.6 |
Myxoid Soft Tissue Tumour Differential, BCOR-CCNB3 RT-PCR |
| M200.7 |
Myxoid Soft Tissue Tumour Differential, WGS Germline and Tumor |
| M201.1 |
Adipocytic Soft Tissue Tumour Differential, DDIT3 rearrangement FISH or RT-PCR |
| M201.2 |
Adipocytic Soft Tissue Tumour Differential, MDM2 copy number FISH |
| M201.3 |
Adipocytic Soft Tissue Tumour Differential, WGS Germline and Tumor |
| M201.4 |
Adipocytic Soft Tissue Tumour Differential, Multi-target NGS panel, structural variant (DDIT3, NTRK1, NTRK2, NTRK3) |
| M201.5 |
Adipocytic Soft Tissue Tumour Differential, Multi-target NGS panel, copy number variant (MDM2) |
| M202.1 |
Epithelioid Soft Tissue Tumour Differential, EWSR1 rearrangement FISH or RT-PCR |
| M202.2 |
Epithelioid Soft Tissue Tumour Differential, FUS rearrangement FISH or RT-PCR |
| M202.3 |
Epithelioid Soft Tissue Tumour Differential, SS18 rearrangement FISH or RT-PCR |
| M202.4 |
Epithelioid Soft Tissue Tumour Differential, TFE3 rearrangement FISH/RT-PCR |
| M202.5 |
Epithelioid Soft Tissue Tumour Differential, WWTR1-CAMTA1 RT-PCR |
| M202.6 |
Epithelioid Soft Tissue Tumour Differential, WGS Germline and Tumor |
| M202.7 |
Epithelioid Soft Tissue Tumour Differential, Multi-target NGS panel, structural variant (EWSR1, FUS, SS18, TFE3, WWTR1-CAMTA1, NTRK1, NTRK2, NTRK3) |
| M203.1 |
Uterine Sarcomas (Inc Endometrial), EPC1-PHF1 rearrangement FISH |
| M203.2 |
Uterine Sarcomas (Inc Endometrial), JAZF1-PHF1 rearrangement FISH |
| M203.3 |
Uterine Sarcomas (Inc Endometrial), JAZF1-SUZ12 rearrangement FISH |
| M203.4 |
Uterine Sarcomas (Inc Endometrial), NUTM2B-YWHAE FISH/RT-PCR |
| M203.5 |
Uterine Sarcomas (Inc Endometrial), WGS Germline and Tumor |
| M203.6 |
Uterine Sarcomas (Inc Endometrial), Multi-target NGS panel, structural variant (EPC1-PHF1, JAZF1-PHF1, JAZF1-SUZ12, NUTM2B-YWHAE, NTRK1, NTRK2, NTRK3) |
| M204.1 |
Undifferentiated tumour, WGS Germline and Tumor |
| M204.2 |
Undifferentiated tumour, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M205.1 |
Cartilage Forming Bone Tumour Differential, Multi-target NGS panel, small variant (H3-3A, H3-3B, IDH1, IDH2) |
| M205.2 |
Cartilage Forming Bone Tumour Differential, H3-3B hotspot |
| M205.3 |
Cartilage Forming Bone Tumour Differential, H3-3A seq |
| M205.4 |
Cartilage Forming Bone Tumour Differential, H3-3B seq |
| M205.5 |
Cartilage Forming Bone Tumour Differential, HEY1-NCOA2 RT-PCR |
| M205.6 |
Cartilage Forming Bone Tumour Differential, SNP Array |
| M205.7 |
Cartilage Forming Bone Tumour Differential, WGS Germline and Tumor |
| M205.8 |
Cartilage Forming Bone Tumour Differential, Multi-target NGS panel, structural variant (HEY1-NCOA2, NTRK1, NTRK2, NTRK3) |
| M206.1 |
Bone Forming Bone Tumour Differential, Multi-target NGS panel, small variant (H3-3A, H3-3B) |
| M206.2 |
Bone Forming Bone Tumour Differential, H3-3B hotspot |
| M206.3 |
Bone Forming Bone Tumour Differential, H3-3A seq |
| M206.4 |
Bone Forming Bone Tumour Differential, H3-3B seq |
| M206.5 |
Bone Forming Bone Tumour Differential, MDM2 copy number FISH |
| M206.6 |
Bone Forming Bone Tumour Differential, USP6 rearrangement FISH |
| M206.7 |
Bone Forming Bone Tumour Differential, WGS Germline and Tumor |
| M206.8 |
Bone Forming Bone Tumour Differential, Multi-target NGS panel, structural variant (USP6, NTRK1, NTRK2, NTRK3) |
| M206.9 |
Bone Forming Bone Tumour Differential, Multi-target NGS panel, copy number variant (MDM2) |
| M207.1 |
Osteoclast-Rich Bone Tumour Differential, Multi-target NGS panel, small variant (H3-3B) |
| M207.2 |
Osteoclast-Rich Bone Tumour Differential, H3-3B seq |
| M207.3 |
Osteoclast-Rich Bone Tumour Differential, H3-3B hotspot |
| M207.4 |
Osteoclast-Rich Bone Tumour Differential, MDM2 copy number FISH |
| M207.5 |
Osteoclast-Rich Bone Tumour Differential, USP6 rearrangement FISH |
| M207.6 |
Osteoclast-Rich Bone Tumour Differential, WGS Germline and Tumor |
| M207.7 |
Osteoclast-Rich Bone Tumour Differential, Multi-target NGS panel, structural variant (USP6, NTRK1, NTRK2, NTRK3) |
| M207.8 |
Osteoclast-Rich Bone Tumour Differential, Multi-target NGS panel, copy number variant (MDM2) |
| M208.1 |
Round Cell Sarcoma of Bone Differential, Multi-target NGS panel, structural variant (BCOR, CIC, EWSR1, WT1, BCOR-CCNB3, HEY1-NCOA2, NTRK1, NTRK2, NTRK3) |
| M208.2 |
Round Cell Sarcoma of Bone Differential, EWSR1 rearrangement FISH or RT-PCR |
| M208.3 |
Round Cell Sarcoma of Bone Differential, WT1 rearrangement FISH or RT-PCR |
| M208.4 |
Round Cell Sarcoma of Bone Differential, BCOR-CCNB3 RT-PCR |
| M208.5 |
Round Cell Sarcoma of Bone Differential, HEY1-NCOA2 RT-PCR |
| M208.6 |
Round Cell Sarcoma of Bone Differential, WGS Germline and Tumor |
| M209.1 |
Vascular Tumour of Bone Differential, MYC copy number FISH |
| M209.2 |
Vascular Tumour of Bone Differential, SERPINE1-FOSB FISH/RT-PCR |
| M209.3 |
Vascular Tumour of Bone Differential, WWTR1-CAMTA1 RT-PCR |
| M209.4 |
Vascular Tumour of Bone Differential, WGS Germline and Tumor |
| M209.5 |
Vascular Tumour of Bone Differential, Multi-target NGS panel, structural variant (SERPINE1-FOSB, WWTR1-CAMTA1, NTRK1, NTRK2, NTRK3) |
| M209.6 |
Vascular Tumour of Bone Differential, Multi-target NGS panel, copy number variant (MYC) |
| M21.1 |
Astrocytoma, Adult, Multi-target NGS panel, small variant (IDH1, IDH2, ATRX, H3-3A,H3C2, BRAF, TERT promoter) |
| M21.2 |
Astrocytoma, Adult, Multi-target NGS panel, copy number variant (EGFR, CDKN2A, CDKN2B) |
| M21.20 |
Astrocytoma, Adult, DNA Methylation |
| M21.21 |
Astrocytoma, Adult, Multi-target NGS panel, structural variant (EGFRvIII, NTRK1, NTRK2, NTRK3) |
| M21.22 |
Astrocytoma, Adult, WGS Germline and Tumor |
| M21.23 |
Astrocytoma, Adult, CDKN2A copy number FISH |
| M21.24 |
Astrocytoma, Adult, CDKN2B copy number FISH |
| M21.3 |
Astrocytoma, Adult, EGFRvIII RT-PCR |
| M21.5 |
Astrocytoma, Adult, EGFR copy number FISH |
| M21.6 |
Astrocytoma, Adult, 1p19q codel FISH/RT-PCR |
| M21.8 |
Astrocytoma, Adult, IDH1 hotspot |
| M21.9 |
Astrocytoma, Adult, IDH2 hotspot |
| M210.1 |
Spindle Cell Tumour of Bone Differential, Multi-target NGS panel, structural variant (ALK, BCOR, CIC, EWSR1, FUS, NTRK1, NTRK2, NTRK3) |
| M210.2 |
Spindle Cell Tumour of Bone Differential, EWSR1 rearrangement FISH or RT-PCR |
| M210.3 |
Spindle Cell Tumour of Bone Differential, FUS rearrangement FISH or RT-PCR |
| M210.4 |
Spindle Cell Tumour of Bone Differential, MDM2 copy number FISH |
| M210.5 |
Spindle Cell Tumour of Bone Differential, WGS Germline and Tumor |
| M210.6 |
Spindle Cell Tumour of Bone Differential, Multi-target NGS panel, copy number variant (MDM2) |
| M211.1 |
Fibro-Osseous Tumour of Bone Differential, Multi-target NGS panel, small variant (GNAS) |
| M211.2 |
Fibro-Osseous Tumour of Bone Differential, MDM2 copy number FISH |
| M211.3 |
Fibro-Osseous Tumour of Bone Differential, WGS Germline and Tumor |
| M211.4 |
Fibro-Osseous Tumour of Bone Differential, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M211.5 |
Fibro-Osseous Tumour of Bone Differential, Multi-target NGS panel, copy number variant (MDM2) |
| M212.1 |
Renal Tumour Differential, Paediatric, Multi-target NGS panel, small variant (CTNNB1, DAXX, ATRX, TP53, TFE3) |
| M212.10 |
Renal Tumour Differential, Paediatric, TFEB-MALAT1 FISH/RT-PCR |
| M212.11 |
Renal Tumour Differential, Paediatric, TFE3-ASPSCR1 FISH/RT-PCR |
| M212.12 |
Renal Tumour Differential, Paediatric, TFE3-MITF FISH/RT-PCR |
| M212.13 |
Renal Tumour Differential, Paediatric, TFE3-PRCC FISH/RT-PCR |
| M212.14 |
Renal Tumour Differential, Paediatric, WGS Germline and Tumor |
| M212.15 |
Renal Tumour Differential, Paediatric, Multi-target NGS panel, structural variant (TFEB-MALAT1, TFE3-ASPSCR1, TFE3-MITF, TFE3-PRCC, NTRK1, NTRK2, NTRK3) |
| M212.16 |
Renal Tumour Differential, Paediatric, Multi-target NGS panel, copy number variant (ATRX, TP53, WT1) |
| M212.2 |
Renal Tumour Differential, Paediatric, ATRX seq |
| M212.3 |
Renal Tumour Differential, Paediatric, CTNNB1 seq |
| M212.4 |
Renal Tumour Differential, Paediatric, DAXX seq |
| M212.5 |
Renal Tumour Differential, Paediatric, TFE3 seq |
| M212.6 |
Renal Tumour Differential, Paediatric, TP53 seq |
| M212.7 |
Renal Tumour Differential, Paediatric, ATRX copy number FISH |
| M212.8 |
Renal Tumour Differential, Paediatric, del(17p) TP53 copy number FISH |
| M212.9 |
Renal Tumour Differential, Paediatric, WT1 copy number FISH |
| M213.1 |
Glial and Glioneuronal Tumour Differential, Paediatric, Multi-target NGS panel, small variant (SMARCA4, SMARCB1, DDX3X, CTNNB1, CDKN2A, TP53, RAF1, PIK3CA, FGFR1, FGFR4, KIT, BRAF, H3-3A, ALK, ATRX, NRAS, PHOX2B) |
| M213.10 |
Glial and Glioneuronal Tumour Differential, Paediatric, BRAF-KIAA1549 FISH/RT-PCR |
| M213.11 |
Glial and Glioneuronal Tumour Differential, Paediatric, BRAF-MACF1 FISH/RT-PCR |
| M213.12 |
Glial and Glioneuronal Tumour Differential, Paediatric, ALK-NPM1 rearrangement FISH |
| M213.13 |
Glial and Glioneuronal Tumour Differential, Paediatric, C11orf95-RELA FISH/RT-PCR |
| M213.14 |
Glial and Glioneuronal Tumour Differential, Paediatric, EWSR1 rearrangement FISH |
| M213.15 |
Glial and Glioneuronal Tumour Differential, Paediatric, FGFR1 rearrangement FISH |
| M213.16 |
Glial and Glioneuronal Tumour Differential, Paediatric, RAF1-NF1A FISH/RT-PCR |
| M213.17 |
Glial and Glioneuronal Tumour Differential, Paediatric, RAF1-SRGAP3 FISH/RT-PCR |
| M213.18 |
Glial and Glioneuronal Tumour Differential, Paediatric, RELA rearrangement FISH/RT-PCR |
| M213.19 |
Glial and Glioneuronal Tumour Differential, Paediatric, YAP1 rearrangement FISH/RT-PCR |
| M213.2 |
Glial and Glioneuronal Tumour Differential, Paediatric, Multi-target NGS panel, structural variant (BRAF-KIAA1549, BRAF-AGK, BRAF-AKAP9, BRAF-CCDC6, BRAF-FAM118B, BRAF-FXR1, BRAF-GNAI1, BRAF-MACF1, other rearrangements of BRAF, ALK, C1 |
| M213.20 |
Glial and Glioneuronal Tumour Differential, Paediatric, YAP1-C11orf95 FISH/RT-PCR |
| M213.21 |
Glial and Glioneuronal Tumour Differential, Paediatric, YAP1-TFE3 FISH/RT-PCR |
| M213.22 |
Glial and Glioneuronal Tumour Differential, Paediatric, Multi-target NGS panel, copy number variant (1p, 19q, EGFR, ALK, C19MC, CDKN2A, FGFR1, KIAA1549, KIT, MYCN, PDGFRA, SMARCA4, SMARCB1, YAP1) |
| M213.23 |
Glial and Glioneuronal Tumour Differential, Paediatric, 1p19q codel FISH/RT-PCR |
| M213.24 |
Glial and Glioneuronal Tumour Differential, Paediatric, ALK copy number FISH |
| M213.25 |
Glial and Glioneuronal Tumour Differential, Paediatric, C19MC copy number FISH |
| M213.26 |
Glial and Glioneuronal Tumour Differential, Paediatric, CDKN2A copy number FISH |
| M213.27 |
Glial and Glioneuronal Tumour Differential, Paediatric, EGFR copy number FISH |
| M213.28 |
Glial and Glioneuronal Tumour Differential, Paediatric, FGFR1 ITD FISH |
| M213.29 |
Glial and Glioneuronal Tumour Differential, Paediatric, KIAA1549 copy number FISH |
| M213.3 |
Glial and Glioneuronal Tumour Differential, Paediatric, BRAF rearrangement FISH |
| M213.30 |
Glial and Glioneuronal Tumour Differential, Paediatric, KIT copy number FISH |
| M213.31 |
Glial and Glioneuronal Tumour Differential, Paediatric, MYCN copy number FISH |
| M213.32 |
Glial and Glioneuronal Tumour Differential, Paediatric, PDGFRA FISH/RT-PCR |
| M213.33 |
Glial and Glioneuronal Tumour Differential, Paediatric, SMARCA4 copy number FISH |
| M213.34 |
Glial and Glioneuronal Tumour Differential, Paediatric, SMARCB1 copy number FISH |
| M213.35 |
Glial and Glioneuronal Tumour Differential, Paediatric, YAP1 copy number FISH |
| M213.36 |
Glial and Glioneuronal Tumour Differential, Paediatric, EGFRvIII RT-PCR |
| M213.37 |
Glial and Glioneuronal Tumour Differential, Paediatric, WGS Germline and Tumor |
| M213.38 |
Glial and Glioneuronal Tumour Differential, Paediatric, DNA Methylation |
| M213.4 |
Glial and Glioneuronal Tumour Differential, Paediatric, BRAF-AGK FISH/RT-PCR |
| M213.5 |
Glial and Glioneuronal Tumour Differential, Paediatric, BRAF-AKAP9 FISH/RT-PCR |
| M213.6 |
Glial and Glioneuronal Tumour Differential, Paediatric, BRAF-CCDC6 FISH/RT-PCR |
| M213.7 |
Glial and Glioneuronal Tumour Differential, Paediatric, BRAF-FAM118B FISH/RT-PCR |
| M213.8 |
Glial and Glioneuronal Tumour Differential, Paediatric, BRAF-FRX1 FISH/RT-PCR |
| M213.9 |
Glial and Glioneuronal Tumour Differential, Paediatric, BRAF-GNAI1 FISH/RT-PCR |
| M215.1 |
Endometrial Cancer, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M215.2 |
Endometrial Cancer, MLH1 promoter hyperMethylation |
| M215.4 |
Endometrial Cancer, Multi-target NGS panel, small variant (MLH1, MSH2, MSH6, PMS2) |
| M215.5 |
Endometrial Cancer, Multi-target NGS panel-small variant detection POLE |
| M217.1 |
Urothelial Cancer, Multi-target NGS panel, small variant (FGFR3, FGFR2) |
| M217.2 |
Bladder Cancer, Multi-target NGS panel, copy number variant (FGFR3, FGFR2) |
| M217.3 |
Bladder Cancer, Multi-target NGS panel, structural variant (FGFR3, FGFR2, NTRK1, NTRK2, NTRK3) |
| M218.1 |
Prostate Cancer, Multi-target NGS panel, small variant (BRCA1, BRCA2, ATM, CDK12) |
| M218.2 |
Prostate Cancer, Multi-target NGS panel, structural variant (TMPRSS2-ERG, NTRK1, NTRK2, NTRK3) |
| M218.3 |
Prostate Cancer, TMPRSS2-ERG FISH |
| M219.1 |
Pancreatic Cancer, Multi-target NGS panel, small variant (BRCA1, BRCA2) |
| M219.2 |
Pancreatic Cancer, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M219.3 |
Pancreatic Cancer, DPYD hotspot |
| M219.5 |
Pancreatic Cancer, MSI Testing |
| M22.1 |
Diffuse Astrocytoma, Paediatric, Multi-target NGS panel, small variant (H3C2, H3C14, IDH1, IDH2) |
| M22.10 |
Diffuse Astrocytoma, Paediatric, MYB rearrangement FISH/RT-PCR |
| M22.11 |
Diffuse Astrocytoma, Paediatric, MYBL1 rearrangement FISH/RT-PCR |
| M22.12 |
Diffuse Astrocytoma, Paediatric, MN1 rearrangement FISH/RT-PCR |
| M22.2 |
Diffuse Astrocytoma, Paediatric, MYC copy number FISH |
| M22.3 |
Diffuse Astrocytoma, Paediatric, MYC rearrangement FISH |
| M22.4 |
Diffuse Astrocytoma, Paediatric, WGS Germline and Tumor |
| M22.5 |
Diffuse Astrocytoma, Paediatric, IDH1 hotspot |
| M22.6 |
Diffuse Astrocytoma, Paediatric, IDH2 hotspot |
| M22.7 |
Diffuse Astrocytoma, Paediatric, DNA Methylation |
| M22.8 |
Diffuse Astrocytoma, Paediatric, Multi-target NGS panel, copy number variant (MYC) |
| M22.9 |
Diffuse Astrocytoma, Paediatric, Multi-target NGS panel, structural variant (MYC, NTRK1, NTRK2, NTRK3) |
| M220.1 |
Cholangiocarcinoma, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3, FGFR2) |
| M220.3 |
Cholangiocarcinoma, DPYD hotspot |
| M220.5 |
Cholangiocarcinoma, MSI Testing |
| M220.6 |
Cholangiocarcinoma, Multi-target NGS panel -small variant (IDH1) |
| M220.7 |
Cholangiocarcinoma, FGFR2 rearrangement FISH |
| M221.1 |
Spitzoid tumour, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M222.2 |
Hepatocellular carcinoma, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M222.4 |
Hepatocellular carcinoma, DPYD hotspot |
| M224.1 |
MDS/MPN, Multi-target NGS panel, small variant |
| M224.10 |
MDS/MPN, BCR-ABL1 multiplex |
| M224.11 |
MDS/MPN, Other RT-PCR |
| M224.13 |
MDS/MPN, JAK2 V617F hotspot |
| M224.14 |
MDS/MPN, JAK2 exon 12 hotspot |
| M224.15 |
MDS/MPN, CALR exon 9 hotspot |
| M224.16 |
MDS/MPN, MPL exon 10 hotspot |
| M224.18 |
MDS/MPN, Chr8 copy number FISH |
| M224.19 |
MDS/MPN, Chr7/Chr7q copy number FISH |
| M224.2 |
MDS/MPN, Karyotype (To include detection of complex karyotype) |
| M224.20 |
MDS/MPN, Chr5/Chr5q copy number FISH |
| M224.21 |
MDS/MPN, i(17q)/t(17p) FISH |
| M224.22 |
MDS/MPN, Chr12p copy number FISH, t(12p) rearrangement FISH |
| M224.23 |
MDS/MPN, t(9;22)(q34;q11) BCR-ABL1 FISH |
| M224.24 |
MDS/MPN, PDGFRA rearrangement FISH (other than FIP1L1-PDGFRA see M85.7) |
| M224.25 |
MDS/MPN, PDGFRB rearrangement FISH (other than ETV6-PDGFRB see M85.9) |
| M224.26 |
MDS/MPN, FGFR1 rearrangement FISH |
| M224.27 |
MDS/MPN, JAK2 rearrangement FISH (other than PCM1-JAK2 see M85.10) |
| M224.28 |
MDS/MPN, inv(3)/t(3;3) FISH |
| M224.29 |
MDS/MPN, 11q23 (KMT2A) rearrangement FISH |
| M224.3 |
MDS/MPN, FISH copy number and rearrangement Other: See tests M224. -M224. for individual specified FISH targets. |
| M224.30 |
MDS/MPN, ABL1 rearrangement FISH (other than BCR-ABL1 see M85.24) |
| M224.31 |
MDS/MPN, FLT3 rearragement FISH |
| M224.32 |
MDS/MPN, RET rearrangement FISH |
| M224.33 |
MDS/MPN, NTRK3 rearrangement FISH |
| M224.34 |
MDS/MPN, Chr13/Chr13q copy number FISH |
| M224.35 |
MDS/MPN, Chr11q copy number FISH |
| M224.36 |
MDS/MPN, Chr9q copy number FISH |
| M224.37 |
MDS/MPN, Chr17/Chr17p copy number FISH |
| M224.38 |
MDS/MPN, idic(X)(q13) FISH |
| M224.39 |
MDS/MPN, Multi-target NGS panel, copy number variant (-7/del7q, -5/del5q, -13/del13q, del11q, del12p, del9q, del17/del17p/i(17q) & idic(X)(q13), cryptic deletion of 4q12, trisomy 8) |
| M224.4 |
MDS/MPN, WGS Germline and Tumor |
| M224.40 |
MDS/MPN, Multi-target NGS panel, structural variant |
| M224.41 |
MDS/MPN, WGS Tumour First |
| M224.42 |
MDS/MPN, WGS Follow-up Germline |
| M224.5 |
MDS/MPN, Multi-target NGS limited panel, small variant (JAK2, CALR, MPL) |
| M224.6 |
MDS/MPN, FIP1L1-PDGFRA FISH/RT-PCR |
| M224.7 |
MDS/MPN, FIP1L1-PDGFRA RT-qPCR |
| M224.8 |
MDS/MPN, ETV6-PDGFRB FISH/RT-PCR |
| M224.9 |
MDS/MPN, PCM1-JAK2 FISH/RT-PCR |
| M225.1 |
Suspected Lymphoma, Ig gene (heavy & light chain) rearrangement detection multiplex seq |
| M225.2 |
Suspected Lymphoma, Ig gene (heavy & light chain) rearrangement detection NGS |
| M225.3 |
Suspected Lymphoma, TCR gene rearrangement detection multiplex seq |
| M225.4 |
Suspected Lymphoma, TCR gene rearrangement detection NGS |
| M225.5 |
Suspected Lymphoma, Karyotype |
| M226.1 |
Cancer of Unknown Primary, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M226.3 |
Cancer of Unknown Primary, DPYD hotspot |
| M226.4 |
Cancer of Unknown Primary, WGS Germline and Tumor |
| M227.1 |
Solid tumour other (i.e. specific histology not listed elsewhere in the test directory), Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M227.3 |
Solid tumour other (i.e. specific histology not listed elsewhere in the test directory), DPYD hotspot |
| M23.1 |
Diffuse Midline Glioma, Adult, Multi-target NGS panel, small variant (IDH1, IDH2, ATRX, TERT promoter, H3-3A) |
| M23.10 |
Diffuse Midline Glioma, Adult, Multi-target NGS panel, copy number variant (1p, 19q) |
| M23.11 |
Diffuse Midline Glioma, Adult, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M23.12 |
Diffuse Midline Glioma, Adult, WGS Germline and Tumor |
| M23.6 |
Diffuse Midline Glioma, Adult, IDH1 hotspot |
| M23.7 |
Diffuse Midline Glioma, Adult, IDH2 hotspot |
| M23.8 |
Diffuse Midline Glioma, Adult, 1p19q codel FISH/RT-PCR |
| M23.9 |
Diffuse Midline Glioma, Adult, DNA Methylation |
| M231.1, |
small cell lung cancer, Multi-target NGS panel, copy number variant (RB1) |
| M231.2, |
small cell lung cancer, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M232.1 |
Solid Tumour Exhausted all Standards of Care Testing and Treatment- Adult, WGS Germline and Tumor |
| M233.1 |
High Grade Serous Ovarian Carcinoma, WGS Germline and Tumor |
| M234.1 |
Triple Negative Breast Cancer, WGS Germline and Tumor |
| M235.1 |
Proven or Suspected Haematological Tumours Exhausted all Standard of Care Testing and Treatment, WGS Germline and Tumor |
| M235.2 |
Proven or Suspected Haematological Tumours Exhausted all Standard of Care Testing and Treatment, WGS Tumour First |
| M235.3 |
Proven or Suspected Haematological Tumours Exhausted all Standard of Care Testing and Treatment, WGS Follow-up Germline |
| M236.1 |
Oesophageal Cancer, MSI Testing |
| M236.2 |
Oesophageal Cancer, DPYD hotspot |
| M237.1 |
Gastric Cancer, MSI Testing |
| M237.2 |
Gastric Cancer, DPYD hotspot |
| M238.1, |
small Bowel Cancer, MSI Testing |
| M238.2, |
small Bowel Cancer, DPYD hotspot |
| M239.1 |
Thyroid Hurtle Cell Carcinoma, Multi-target NGS panel, structural variant (RET) |
| M24.1 |
Embryonal Tumours with Multi-Layered Rosettes, Paediatric, C19MC copy number FISH |
| M24.2 |
Embryonal Tumours with Multi-Layered Rosettes, Paediatric, TTYH1-C19MC FISH/RT-PCR |
| M24.3 |
Embryonal Tumours with Multi-Layered Rosettes, Paediatric, WGS Germline and Tumor |
| M24.4 |
Embryonal Tumours with Multi-Layered Rosettes, Paediatric, DNA Methylation |
| M24.5 |
Embryonal Tumours with Multi-Layered Rosettes, Paediatric, Multi-target NGS panel, copy number variant (C19MC) |
| M24.6 |
Embryonal Tumours with Multi-Layered Rosettes, Paediatric, Multi-target NGS panel, structural variant (TTYH1-C19MC, NTRK1, NTRK2, NTRK3) |
| M240.1 |
Non-invasive follicular thyroid neoplasm with papillary like nuclei, Multi-target NGS panel, small variant (BRAF,HRAS,NRAS,KRAS) |
| M241.1 |
Conjunctival melanoma, MYB & 6cen (FISH) |
| M241.2 |
Conjunctival melanoma, RREB1 (6p25) (FISH) |
| M241.3 |
Conjunctival melanoma, CCND1 (11q13) (FISH) |
| M241.4 |
Conjunctival melanoma, MYC & 8cen (FISH) |
| M241.5 |
Conjunctival melanoma, CDKN2A & 9cen (FISH) |
| M242.1 |
Any patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected), STR Testing |
| M242.2 |
Any patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected), Sex chromosome FISH |
| M243.1 |
Thymic Carcinoma, Multi-target NGS panel (KIT) |
| M244.1 |
In all tumours elligible for NTRK1/2/3 testing, FISH |
| M245.1 |
Ovarian sex cord stromal tumuors, Multi-target NGS panel-small variant (FOXL2, CTNNB1, APC, DICER1) |
| M25.1 |
Ependymoma, Paediatric, Multi-target NGS panel, small variant (YAP1) |
| M25.10 |
Ependymoma, Paediatric, MYCN copy number FISH |
| M25.11 |
Ependymoma, Paediatric, ZFTA rearrangements (several fusion partners) |
| M25.2 |
Ependymoma, Paediatric, YAP1 copy number FISH |
| M25.3 |
Ependymoma, Paediatric, YAP1-C11orf95 FISH/RT-PCR |
| M25.4 |
Ependymoma, Paediatric, YAP1-TFE3 FISH/RT-PCR |
| M25.5 |
Ependymoma, Paediatric, C11orf95-RELA FISH/RT-PCR |
| M25.6 |
Ependymoma, Paediatric, WGS Germline and Tumor |
| M25.7 |
Ependymoma, Paediatric, DNA Methylation |
| M25.8 |
Ependymoma, Paediatric, Multi-target NGS panel, copy number variant (YAP1, MYCN) |
| M25.9 |
Ependymoma, Paediatric, Multi-target NGS panel, structural variant (YAP1-C11orf95, YAP1-TFE3, C11orf95-RELA, NTRK1, NTRK2, NTRK3) |
| M26.1 |
Ependymoma Supratentorial, Adult, YAP1 rearrangement FISH/RT-PCR |
| M26.2 |
Ependymoma, Adult, RELA rearrangement FISH/RT-PCR |
| M26.3 |
Ependymoma, Adult, DNA Methylation |
| M26.4 |
Ependymoma, Adult, Multi-target NGS panel, structural variant (YAP1, RELA, NTRK1, NTRK2, NTRK3) |
| M26.5 |
Ependymoma, Adult, WGS Germline and Tumor |
| M26.6 |
Ependymoma, Adult, ZFTA rearrangements (several fusion partners) |
| M27.1 |
Glioblastoma, Adult, Multi-target NGS panel, small variant (IDH1, IDH2, ATRX, H3-3A, H3C2, BRAF, TERT promoter) |
| M27.10 |
Glioblastoma, Adult, MYC copy number FISH |
| M27.11 |
Glioblastoma, Adult, PTEN (10q23) copy number FISH/RT-PCR |
| M27.12 |
Glioblastoma, Adult, IDH1 hotspot |
| M27.13 |
Glioblastoma, Adult, IDH2 hotspot |
| M27.14 |
Glioblastoma, Adult, DNA Methylation |
| M27.15 |
Glioblastoma, Adult, Multi-target NGS panel, structural variant (EGFRvIII, NTRK1, NTRK2, NTRK3) |
| M27.16 |
Glioblastoma, Adult, WGS Germline and Tumor |
| M27.2 |
Glioblastoma, Adult, Multi-target NGS panel, copy number variant (EGFR, PDGFRA, MYC, PTEN, 1p, 19q) |
| M27.3 |
Glioblastoma, Adult, EGFRvIII RT-PCR |
| M27.5 |
Glioblastoma, Adult, EGFR copy number FISH |
| M27.6 |
Glioblastoma, Adult, MGMT promoter hyperMethylation |
| M27.7 |
Glioblastoma, Adult, 1p19q codel FISH/RT-PCR |
| M27.9 |
Glioblastoma, Adult, PDGFRA copy number FISH/RT-PCR |
| M28.1 |
Glioma, Adult, Multi-target NGS panel, small variant (H3C2, H3C3, H3C14, H3-3A, H3-3B, IDH1, IDH2, TP53, VHL, TERT promoter) |
| M28.2 |
Glioma, Adult, Multi-target NGS panel, copy number variant (EGFR, 1p, 19q) |
| M28.3 |
Glioma, Adult, EGFR copy number FISH |
| M28.4 |
Glioma, Adult, IDH1 hotspot |
| M28.5 |
Glioma, Adult, IDH2 hotspot |
| M28.6 |
Glioma, Adult, 1p19q codel FISH/RT-PCR |
| M28.7 |
Glioma, Adult, DNA Methylation |
| M28.8 |
Glioma, Adult, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M28.9 |
Glioma, Adult, WGS Germline and Tumor |
| M29.1 |
High Grade Glioma, Adult, Multi-target NGS panel, small variant (IDH1, IDH2, ATRX, TERT promoter, H3-3A, H3C2) |
| M29.2 |
High Grade Glioma, Adult, MGMT promoter hyperMethylation |
| M29.3 |
High Grade Glioma, Adult, IDH1 hotspot |
| M29.4 |
High Grade Glioma, Adult, IDH2 hotspot |
| M29.5 |
High Grade Glioma, Adult, 1p19q codel FISH/RT-PCR |
| M29.6 |
High Grade Glioma, Adult, DNA Methylation |
| M29.7 |
High Grade Glioma, Adult, Multi-target NGS panel, copy number variant (1p, 19q) |
| M29.8 |
High Grade Glioma, Adult, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M29.9 |
High Grade Glioma, Adult, WGS Germline and Tumor |
| M3.12 |
Breast Cancer, Tumour profiling tests to guide adjuvant chemotherapy decisions in early breast cancer |
| M3.13 |
Breast Cancer, Multi-target ctDNA NGS panel, small variant (ESR1) |
| M3.5 |
Breast Cancer, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M3.6 |
Breast Cancer, Multi-target NGS panel, small variant (PIK3CA) |
| M3.7 |
Breast Cancer, DPYD hotspot |
| M3.9 |
Breast Cancer, ETV6-NTRK3 FISH/RT-PCR |
| M30.1 |
IDH-Wildtype Glioblastoma, Paediatric, Multi-target NGS panel, small variant (RB1, NF1) |
| M30.2 |
IDH-Wildtype Glioblastoma, Paediatric, WGS Germline and Tumor |
| M30.3 |
IDH-Wildtype Glioblastoma, Paediatric, DNA Methylation |
| M30.4 |
IDH-Wildtype Glioblastoma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M31.1 |
Low Grade Glioma, Adult, MGMT promoter hyperMethylation |
| M31.2 |
Low Grade Glioma, Adult, Multi-target NGS panel, small variant (IDH1, IDH2, TERT promoter, H3-3A, H3C2) |
| M31.3 |
Low Grade Glioma, Adult, 1p19q codel FISH/RT-PCR |
| M31.4 |
Low Grade Glioma, Adult, DNA Methylation |
| M31.5 |
Low Grade Glioma, Adult, Multi-target NGS panel, copy number variant (1p, 19q) |
| M31.6 |
Low Grade Glioma, Adult, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M31.7 |
Low Grade Glioma, Adult, WGS Germline and Tumor |
| M32.1 |
Low Grade Glioma/Glioneuronal Tumours, Adult, Multi-target NGS panel, small variant (BRAF, IDH1, IDH2, TERT promoter, H3-3A, H3C2) |
| M32.2 |
Low Grade Glioma/Glioneuronal Tumours, Adult, 1p19q codel FISH/RT-PCR |
| M32.3 |
Low Grade Glioma/Glioneuronal Tumours, Adult, DNA Methylation |
| M32.4 |
Low Grade Glioma/Glioneuronal Tumours, Adult, Multi-target NGS panel, copy number variant (1p, 19q) |
| M32.5 |
Low Grade Glioma/Glioneuronal Tumours, Adult, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M32.6 |
Low Grade Glioma/Glioneuronal Tumours, Adult, WGS Germline and Tumor |
| M33.3 |
Meningioma, Adult, Multi-target NGS panel, small variant (TERT promoter) |
| M33.4 |
Meningioma, Adult, DNA Methylation |
| M33.5 |
Meningioma, Adult, WGS Germline and Tumor |
| M34.1 |
Non-Midline Glioma, Adult, Multi-target NGS panel, small variant (IDH1, IDH2, ATRX, TERT promoter, H3-3A, H3C2) |
| M34.2 |
Non-Midline Glioma, Adult, IDH1 hotspot |
| M34.3 |
Non-Midline Glioma, Adult, IDH2 hotspot |
| M34.4 |
Non-Midline Glioma, Adult, 1p19q codel FISH/RT-PCR |
| M34.5 |
Non-Midline Glioma, Adult, DNA Methylation |
| M34.6 |
Non-Midline Glioma, Adult, Multi-target NGS panel, copy number variant (1p, 19q) |
| M34.7 |
Non-Midline Glioma, Adult, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M34.8 |
Non-Midline Glioma, Adult, WGS Germline and Tumor |
| M35.1 |
OligodendroGlioma, Adult, Multi-target NGS panel, small variant (IDH1, IDH2, ATRX, H3-3A, H3C2, BRAF, TERT promoter) |
| M35.2 |
OligodendroGlioma, Adult, 1p19q codel FISH/RT-PCR |
| M35.4 |
OligodendroGlioma, Adult, IDH1 hotspot |
| M35.5 |
OligodendroGlioma, Adult, IDH2 hotspot |
| M35.6 |
OligodendroGlioma, Adult, DNA Methylation |
| M35.7 |
OligodendroGlioma, Adult, Multi-target NGS panel, copy number variant (1p, 19q) |
| M35.8 |
OligodendroGlioma, Adult, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M35.9 |
OligodendroGlioma, Adult, WGS Germline and Tumor |
| M36.1 |
Pilocytic Astrocytoma, Adult, BRAF-KIAA1549 FISH/RT-PCR |
| M36.10 |
Pilocytic Astrocytoma, Adult, KIAA1549 copy number FISH |
| M36.11 |
Pilocytic Astrocytoma, Adult, CDKN2A copy number FISH |
| M36.12 |
Pilocytic Astrocytoma, Adult, Multi-target NGS panel, small variant (BRAF, CDKN2A) |
| M36.13 |
Pilocytic Astrocytoma, Adult, DNA Methylation |
| M36.14 |
Pilocytic Astrocytoma, Adult, Multi-target NGS panel, structural variant (BRAF-KIAA1549, BRAF-AGK, BRAF-AKAP9, BRAF-CCDC6, BRAF-FAM118B, BRAF-FXR1, BRAF-GNAI1, BRAF-MACF1, other rearrangements of BRAF, NTRK1, NTRK2, NTRK3) |
| M36.15 |
Pilocytic Astrocytoma, Adult, Multi-target NGS panel, copy number variant (KIAA1549, CDKN2A) |
| M36.16 |
Pilocytic Astrocytoma, Adult, WGS Germline and Tumor |
| M36.2 |
Pilocytic Astrocytoma, Adult, BRAF-AGK FISH/RT-PCR |
| M36.3 |
Pilocytic Astrocytoma, Adult, BRAF-AKAP9 FISH/RT-PCR |
| M36.4 |
Pilocytic Astrocytoma, Adult, BRAF-CCDC6 FISH/RT-PCR |
| M36.5 |
Pilocytic Astrocytoma, Adult, BRAF-FAM118B FISH/RT-PCR |
| M36.6 |
Pilocytic Astrocytoma, Adult, BRAF-FXR1 FISH/RT-PCR |
| M36.7 |
Pilocytic Astrocytoma, Adult, BRAF-GNAI1 FISH/RT-PCR |
| M36.8 |
Pilocytic Astrocytoma, Adult, BRAF-MACF1 FISH/RT-PCR |
| M36.9 |
Pilocytic Astrocytoma, Adult, BRAF rearrangement FISH |
| M37.1 |
Pineoblastoma, Paediatric, Multi-target NGS panel, small variant (DICER1) |
| M37.2 |
Pineoblastoma, Paediatric, WGS Germline and Tumor |
| M37.3 |
Pineoblastoma, Paediatric, DNA Methylation |
| M37.4 |
Pineoblastoma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M38.1 |
Pituitary Tumours, MGMT promoter hyperMethylation |
| M38.2 |
Pituitary Tumours, Multi-target NGS panel, copy number variant (EGFR) |
| M38.3 |
Pituitary Tumours, EGFR copy number FISH |
| M38.4 |
Pituitary Tumours, DNA Methylation |
| M38.5 |
Pituitary Tumours, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M38.6 |
Pituitary Tumours, WGS Germline and Tumor |
| M39.1 |
Rare Primitive Neuroectodermal Tumours Groups 2/3, Paediatric, Multi-target NGS panel, small variant (CDKN2A) |
| M39.2 |
Rare Primitive Neuroectodermal Tumours Groups 2/3, Paediatric, WGS Germline and Tumor |
| M39.3 |
Rare Primitive Neuroectodermal Tumours Groups 2/3, Paediatric, DNA Methylation |
| M39.4 |
Rare Primitive Neuroectodermal Tumours Groups 2/3, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M4.1 |
Non-Small Cell Lung Cancer, Multi-target NGS panel, small variant (EGFR, ALK, BRAF, KRAS, MET) |
| M4.10 |
Non-Small Cell Lung Cancer, EML4-ALK FISH/RT-PCR |
| M4.11 |
Non-Small Cell Lung Cancer, ALK hotspot cDNA |
| M4.13 |
Non-Small Cell Lung Cancer, Combined Multi-target NGS panel, small variant (EGFR, ALK, BRAF, KRAS, MET exon 14 skipping, ERBB2*) and structural variant (ROS1, RET, ALK, NTRK1, NTRK2, NTRK3, MET exon 14 skipping) |
| M4.14 |
Non-Small Cell Lung Cancer, Multi-target ctDNA combined Multi-target NGS panel, small variant (EGFR, ALK, BRAF, KRAS, MET exon 14 skipping and copy number variations) and structural variant (ROS1, RET, ALK, NTRK1, NTRK2, NTRK3, MET exon |
| M4.2 |
Non-Small Cell Lung Cancer, Multi-target NGS panel, structural variant (ROS1, RET, EML4-ALK, NTRK1, NTRK1, NTRK3, MET) |
| M4.3 |
Non-Small Cell Lung Cancer, Multi-target NGS panel, copy number variant (MET) |
| M4.4 |
Non-Small Cell Lung Cancer, EGFR hotspot Tumor |
| M4.5 |
Non-Small Cell Lung Cancer, EGFR hotspot ctDNA |
| M4.6 |
Non-Small Cell Lung Cancer, ROS1 rearrangement FISH/RT-PCR |
| M4.7 |
Non-Small Cell Lung Cancer, RET rearrangement FISH/RT-PC |
| M4.8 |
Non-Small Cell Lung Cancer, MET copy number FISH |
| M42.1 |
Alveolar Rhabdomyosarcoma, FOXO1 rearrangement FISH |
| M42.2 |
Alveolar Rhabdomyosarcoma, PAX3-FOXO1 rearrangement FISH or RT-PCR |
| M42.3 |
Alveolar Rhabdomyosarcoma, PAX7-FOXO1 rearrangement FISH or RT-PCR |
| M42.4 |
Alveolar Rhabdomyosarcoma, WGS Germline and Tumor |
| M42.5 |
Alveolar Rhabdomyosarcoma, Multi-target NGS panel, structural variant (FOXO1, PAX3-FOXO1, PAX7-FOXO1 NTRK1, NTRK2, NTRK3) |
| M43.1 |
Alveolar Soft Part Sarcoma, TFE3 rearrangement FISH/RT-PCR |
| M43.2 |
Alveolar Soft Part Sarcoma, WGS Germline and Tumor |
| M43.3 |
Alveolar Soft Part Sarcoma, Multi-target NGS panel, structural variant (TFE3, NTRK1, NTRK2, NTRK3) |
| M44.1 |
Aneurysmal Bone Cyst, USP6 rearrangement FISH |
| M44.2 |
Aneurysmal Bone Cyst, Multi-target NGS panel, structural variant (USP6) |
| M45.1 |
Angiomatoid Fibrous Histiocytoma, EWSR1 rearrangement FISH or RT-PCR |
| M45.2 |
Angiomatoid Fibrous Histiocytoma, FUS rearrangement FISH |
| M45.3 |
Angiomatoid Fibrous Histiocytoma, WGS Germline and Tumor |
| M45.4 |
Angiomatoid Fibrous Histiocytoma, Multi-target NGS panel, structural variant (EWSR1, FUS, NTRK1, NTRK2, NTRK3) |
| M46.1 |
Chondrosarcoma Conventional Central, Multi-target NGS panel, small variant (IDH1, IDH2) |
| M46.2 |
Chondrosarcoma Conventional Central, WGS Germline and Tumor |
| M46.3 |
Chondrosarcoma Conventional Central, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M47.1 |
Chondroblastoma, SNP Array |
| M47.2 |
Chondroblastoma, WGS Germline and Tumor |
| M47.3 |
Chondroblastoma, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M48.1 |
Clear Cell Sarcoma of Soft Tissue, EWSR1 rearrangement FISH or RT-PCR |
| M48.2 |
Clear Cell Sarcoma of Soft Tissue, WGS Germline and Tumor |
| M48.3 |
Clear Cell Sarcoma of Soft Tissue, Multi-target NGS panel, structural variant (EWSR1, NTRK1, NTRK2, NTRK3) |
| M49.1 |
CNS Ewing Sarcoma Family Tumour With CIC Alteration, Multi-target NGS panel, structural variant (CIC, NTRK1, NTRK2, NTRK3) |
| M49.2 |
CNS Ewing Sarcoma Family Tumour With CIC Alteration, WGS Germline and Tumor |
| M5.1 |
Mesothelioma, CDKN2A copy number FISH |
| M5.2 |
Mesothelioma, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M5.3 |
Mesothelioma, Multi-target NGS panel, copy number variant (CDKN2A) |
| M50.1 |
Dermatofibrosarcoma Protuberans, COL1A1-PDGFB rearrangement FISH |
| M50.2 |
Dermatofibrosarcoma Protuberans, WGS Germline and Tumor |
| M50.3 |
Dermatofibrosarcoma Protuberans, Multi-target NGS panel, structural variant (COL1A1-PDGFB, NTRK1, NTRK2, NTRK3) |
| M51.1 |
Desmoid-Type Fibromatosis, Multi-target NGS panel, small variant (APC, CTNNB1) |
| M52.1 |
Desmoplastic Small Round Cell Tumour, WT1 rearrangement FISH or RT-PCR |
| M52.2 |
Desmoplastic Small Round Cell Tumour, WGS Germline and Tumor |
| M52.3 |
Desmoplastic Small Round Cell Tumour, Multi-target NGS panel, structural variant (WT1, NTRK1, NTRK2, NTRK3) |
| M53.1 |
Endometrial Stromal Sarcoma, EPC1-PHF1 rearrangement FISH |
| M53.2 |
Endometrial Stromal Sarcoma, JAZF1-PHF1 rearrangement FISH |
| M53.3 |
Endometrial Stromal Sarcoma, JAZF1-SUZ12 rearrangement FISH or RT-PCR |
| M53.4 |
Endometrial Stromal Sarcoma, WGS Germline and Tumor |
| M53.5 |
Endometrial Stromal Sarcoma, Multi-target NGS panel, structural variant (EPC1-PHF1, JAZF1-PHF1, JAZF1-SUZ12, NTRK1, NTRK2, NTRK3, ZC3H7B-BCOR) |
| M53.7 |
Endometrial Stromal Sarcoma, ZC3H7B-BCOR rearrangment FISH/RT-PCR |
| M54.1 |
Epithelioid Haemangioendothelioma, WWTR1-CAMTA1 RT-PCR |
| M54.2 |
Epithelioid Haemangioendothelioma, Multi-target NGS panel, structural variant (WWTR1-CAMTA1) |
| M55.1 |
Ewing Like Sarcoma/PNET, Multi-target NGS panel, structural variant (BCOR, BCOR-CCNB3, NTRK1, NTRK2, NTRK3) |
| M55.2 |
Ewing Like Sarcoma/PNET, BCOR-CCNB3 RT-PCR |
| M55.3 |
Ewing Like Sarcoma/PNET, WGS Germline and Tumor |
| M56.1 |
Ewing Sarcoma of Bone, EWSR1 rearrangement FISH or RT-PCR |
| M56.2 |
Ewing Sarcoma of Bone, WGS Germline and Tumor |
| M56.3 |
Ewing Sarcoma of Bone, Multi-target NGS panel, structural variant (EWSR1, NTRK1, NTRK2, NTRK3) |
| M57.1 |
Ewing-Like Soft-Tissue Sarcoma, Multi-target NGS panel, structural variant (BCOR, BCOR-CCNB3, NTRK1, NTRK2, NTRK3) |
| M57.2 |
Ewing-Like Soft-Tissue Sarcoma, BCOR-CCNB3 RT-PCR |
| M57.3 |
Ewing-Like Soft-Tissue Sarcoma, WGS Germline and Tumor |
| M58.1 |
Extraskeletal Myxoid Chondrosarcoma, NR4A3 rearrangement FISH or RT-PCR |
| M58.2 |
Extraskeletal Myxoid Chondrosarcoma, WGS Germline and Tumor |
| M58.3 |
Extraskeletal Myxoid Chondrosarcoma, Multi-target NGS panel, structural variant (NR4A3, NTRK1, NTRK2, NTRK3) |
| M59.1 |
Fibrous Dysplasia/Myxomas (Mazabraud Syndrome), Multi-target NGS panel, small variant (GNAS) |
| M6.1 |
Mucoepidermoid Carcinoma, MAML2 rearrangement FISH |
| M6.2 |
Mucoepidermoid Carcinoma, Multi-target NGS panel, structural variant (MAML2, NTRK1, NTRK2, NTRK3) |
| M6.3 |
Mucoepidermoid Carcinoma, Multi-target NGS panel, structural variant (MAML2) |
| M6.5 |
Mucoepidermoid Carcinoma, DPYD hotspot |
| M60.1 |
Giant Cell Tumour of Bone, H3-3B hotspot |
| M60.2 |
Giant Cell Tumour of Bone, WGS Germline and Tumor |
| M60.3 |
Giant Cell Tumour of Bone, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M61.1 |
High-Grade Neuroepithelial Tumour-Bcor Group, Multi-target NGS panel, structural variant (BCOR, BCOR-CCNB3, NTRK1, NTRK2, NTRK3) |
| M61.2 |
High-Grade Neuroepithelial Tumour-Bcor Group, BCOR-CCNB3 RT-PCR |
| M61.3 |
High-Grade Neuroepithelial Tumour-Bcor Group, WGS Germline and Tumor |
| M62.1 |
Infantile Fibrosarcoma, ETV6-NTRK3 RT-PCR or FISH |
| M62.2 |
Infantile Fibrosarcoma, WGS Germline and Tumor |
| M62.3 |
Infantile Fibrosarcoma, Multi-target NGS panel, structural variant (ETV6-NTRK3, NTRK1, NTRK2, NTRK3) |
| M63.1 |
Inflammatory Myofibroblastic Tumour, TPM4-ALK FISH/RT-PCR |
| M63.2 |
Inflammatory Myofibroblastic Tumour, TPM3-ALK FISH/RT-PCR |
| M63.3 |
Inflammatory Myofibroblastic Tumour, Multi-target NGS panel, structural variant (ALK, TPM4-ALK, TPM3-ALK, NTRK1, NTRK2, NTRK3) |
| M63.4 |
Inflammatory Myofibroblastic Tumour, WGS Germline and Tumor |
| M64.1 |
Low Grade Fibromyxoid Sarcoma, FUS rearrangement FISH or RT-PCR |
| M64.2 |
Low Grade Fibromyxoid Sarcoma, WGS Germline and Tumor |
| M64.3 |
Low Grade Fibromyxoid Sarcoma, Multi-target NGS panel, structural variant (FUS, NTRK1, NTRK2, NTRK3) |
| M65.1 |
Mesenchymal Chondrosarcoma, HEY1-NCOA2 RT-PCR |
| M65.2 |
Mesenchymal Chondrosarcoma, WGS Germline and Tumor |
| M65.3 |
Mesenchymal Chondrosarcoma, Multi-target NGS panel, structural variant (HEY1-NCOA2, NTRK1, NTRK2, NTRK3) |
| M66.1 |
Myoepithelial Tumours of Soft Tissue, EWSR1 rearrangement FISH or RT-PCR |
| M66.2 |
Myoepithelial Tumours of Soft Tissue, WGS Germline and Tumor |
| M66.3 |
Myoepithelial Tumours of Soft Tissue, Multi-target NGS panel, structural variant (EWSR1, NTRK1, NTRK2, NTRK3) |
| M67.1 |
Myxoid/Round Cell Liposarcoma, DDIT3 rearrangement FISH or RT-PCR |
| M67.2 |
Myxoid/Round Cell Liposarcoma, WGS Germline and Tumor |
| M67.3 |
Myxoid/Round Cell Liposarcoma, Multi-target NGS panel, structural variant (DDIT3, NTRK1, NTRK2, NTRK3) |
| M67.4 |
Myxoid/Round Cell Lipsarcoma, MDM2 amplification FISH |
| M68.1 |
Myxoinflammatory Fibroblastic Sarcoma, TGFBR3-OGA FISH/RT-PCR |
| M68.2 |
Myxoinflammatory Fibroblastic Sarcoma, WGS Germline and Tumor |
| M68.3 |
Myxoinflammatory Fibroblastic Sarcoma, MDM2 copy number FISH |
| M68.4 |
Myxoinflammatory Fibroblastic Sarcoma, Multi-target NGS panel, structural variant (TGFBR3-OGA, NTRK1, NTRK2, NTRK3) |
| M68.5 |
Myxoinflammatory Fibroblastic Sarcoma, Multi-target NGS panel, copy number variant (MDM2) |
| M69.1 |
Nodular Fasciitis, USP6 rearrangement FISH |
| M69.2 |
Nodular Fasciitis, Multi-target NGS panel, structural variant (USP6) |
| M7.1 |
Melanoma, Adult, Multi-target NGS panel, small variant (BRAF, KIT, NRAS) |
| M7.10 |
Melanoma, Adult, Copy number variant detection to genomewide resolution |
| M7.2 |
Melanoma, Adult, BRAF hotspot |
| M7.3 |
Melanoma, Adult, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M7.5 |
Melanoma, Adult, MYB & 6cen (FISH) |
| M7.6 |
Melanoma, Adult, RREB1 (6p25) |
| M7.7 |
Melanoma, Adult, CCND1 (11q13) |
| M7.8 |
Melanoma, Adult, MYC & 8cen |
| M7.9 |
Melanoma, Adult, CDKN2A & 9cen |
| M70.1 |
Osteosarcoma, MDM2 copy number FISH |
| M70.2 |
Osteosarcoma, WGS Germline and Tumor |
| M70.3 |
Osteosarcoma, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M70.4 |
Osteosarcoma, Multi-target NGS panel, copy number variant (MDM2) |
| M71.1 |
Phosphaturic Mesenchymal Tumour, FN1 rearrangement FISH |
| M71.2 |
Phosphaturic Mesenchymal Tumour, WGS Germline and Tumor |
| M71.3 |
Phosphaturic Mesenchymal Tumour, Multi-target NGS panel, structural variant (FN1, NTRK1, NTRK2, NTRK3) |
| M72.1 |
Primitive Mesenchymal Myxoid Tumour of Infancy, Multi-target NGS panel, structural variant (BCOR, BCOR-CCNB3, NTRK1, NTRK2, NTRK3) |
| M72.2 |
Primitive Mesenchymal Myxoid Tumour of Infancy, BCOR-CCNB3 RT-PCR |
| M72.3 |
Primitive Mesenchymal Myxoid Tumour of Infancy, WGS Germline and Tumor |
| M73.1 |
Pseudomyogenic Haemangioendothelioma, SERPINE1-FOSB FISH/RT-PCR |
| M73.2 |
Pseudomyogenic Haemangioendothelioma, WGS Germline and Tumor |
| M73.3 |
Pseudomyogenic Haemangioendothelioma, Multi-target NGS panel, structural variant (SERPINE1-FOSB, NTRK1, NTRK2, NTRK3) |
| M74.1 |
Radiation Induced Angiosarcoma, MYC copy number FISH |
| M74.2 |
Radiation Induced Angiosarcoma, WGS Germline and Tumor |
| M74.3 |
Radiation Induced Angiosarcoma, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M74.4 |
Radiation Induced Angiosarcoma, Multi-target NGS panel, copy number variant (MYC) |
| M75.1 |
Round Cell Sarcoma Nos, Multi-target NGS panel, structural variant (BCOR, CIC, BCOR-CCNB3, NTRK1, NTRK2, NTRK3) |
| M75.2 |
Round Cell Sarcoma Nos, BCOR-CCNB3 RT-PCR |
| M75.3 |
Round Cell Sarcoma Nos, WGS Germline and Tumor |
| M76.1 |
Sclerosing Epithelioid Fibrosarcoma, FUS rearrangement FISH or RT-PCR |
| M76.2 |
Sclerosing Epithelioid Fibrosarcoma, WGS Germline and Tumor |
| M76.3 |
Sclerosing Epithelioid Fibrosarcoma, Multi-target NGS panel, structural variant (FUS, NTRK1, NTRK2, NTRK3) |
| M77.1 |
Synovial Sarcoma, SS18 rearrangement FISH or RT-PCR |
| M77.2 |
Synovial Sarcoma, WGS Germline and Tumor |
| M77.3 |
Synovial Sarcoma, Multi-target NGS panel, structural variant (SS18, NTRK1, NTRK2, NTRK3) |
| M78.1 |
Undifferentiated Round Cell Sarcoma of Infancy, Multi-target NGS panel, structural variant (CIC, NTRK1, NTRK2, NTRK3) |
| M78.2 |
Undifferentiated Round Cell Sarcoma of Infancy, WGS Germline and Tumor |
| M79.1 |
Well Differentiated/Dedifferentiated Liposarcoma, MDM2 copy number FISH |
| M79.2 |
Well Differentiated/Dedifferentiated Liposarcoma, WGS Germline and Tumor |
| M79.3 |
Well Differentiated/Dedifferentiated Liposarcoma, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M79.4 |
Well Differentiated/Dedifferentiated Liposarcoma, Multi-target NGS panel, copy number variant (MDM2, DDIT3) |
| M79.6 |
Well Differentiated/Dedifferentiated Liposarcoma, DDIT3 copy number FISH |
| M79.7 |
Well Differentiated/Dedifferentiated Liposarcoma, DDIT3 copy number RT-PCR/ddPCR |
| M8.1 |
Gastrointestinal Stromal Tumour, Multi-target NGS panel, small variant (KIT, PDGFRA) |
| M8.2 |
Gastrointestinal Stromal Tumour, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M80.1 |
Acute Myeloid Leukaemia, WGS Germline and Tumor |
| M80.10 |
Acute Myeloid Leukaemia, MRD PML-RARA RT-qPCR |
| M80.11 |
Acute Myeloid Leukaemia, MRD RUNX1-RUNX1T1 RT-qPCR |
| M80.12 |
Acute Myeloid Leukaemia, MRD CBFB-MYH11 RT-qPCR |
| M80.13 |
Acute Myeloid Leukaemia, MRD BCR-ABL1 RT-qPCR |
| M80.14 |
Acute Myeloid Leukaemia, MRD other QF-PCR |
| M80.15 |
Acute Myeloid Leukaemia, BCR-ABL1 TKD NGS |
| M80.18 |
Acute Myeloid Leukaemia, FLT3 ITD |
| M80.19 |
Acute Myeloid Leukaemia, Multi-target NGS panel, small variant (GATA1) |
| M80.2 |
Acute Myeloid Leukaemia, Multi-target NGS panel, small variant (NPM1, CEBPA, RUNX1, FLT3, IDH1, IDH2, KIT, WT1, ASXL1, SRSF2, STAG2, RAD21, TP53, KRAS, NRAS, KMT2A(MLL)-PTD), PPM1D, DDX41, PHF6, CUX1 |
| M80.21 |
Acute Myeloid Leukaemia, FLT3 TKD hotspot |
| M80.22 |
Acute Myeloid Leukaemia, NPM1 exon 12 hotspot |
| M80.23 |
Acute Myeloid Leukaemia, IDH1 hotspot |
| M80.24 |
Acute Myeloid Leukaemia, IDH2 hotspot |
| M80.25 |
Acute Myeloid Leukaemia, Chr5/Chr5q copy number FISH |
| M80.26 |
Acute Myeloid Leukaemia, Chr7/Chr7q copy number FISH |
| M80.27 |
Acute Myeloid Leukaemia, Chr17/Chr17p copy number FISH |
| M80.28 |
Acute Myeloid Leukaemia, Chr12/Chr12p copy number FISH |
| M80.29 |
Acute Myeloid Leukaemia, t(15;17)(q24;q21) PML-RARA FISH |
| M80.3 |
Acute Myeloid Leukaemia, Karyotype (To include detection of Complex karyotype, Monosomal karyotype) |
| M80.30 |
Acute Myeloid Leukaemia, t(8;21)(q22;q22) RUNX1-RUNX1T1 FISH |
| M80.31 |
Acute Myeloid Leukaemia, inv(16)(p13.1q22) CBFB-MYH11 FISH |
| M80.32 |
Acute Myeloid Leukaemia, t(9;11)(p21;q23) MLLT3-KMT2A & other 11q23.3 ( KMT2A) rearrangements FISH |
| M80.33 |
Acute Myeloid Leukaemia, t(6;9)(p22;q34) DEK-NUP214 FISH |
| M80.34 |
Acute Myeloid Leukaemia, inv(3)(q21q26) GATA2-MECOM FISH |
| M80.35 |
Acute Myeloid Leukaemia, t(1;22)(p13;q13) RBM15-MRTFA FISH |
| M80.36 |
Acute Myeloid Leukaemia, t(9;22)(q34;q11) BCR-ABL1 FISH |
| M80.37 |
Acute Myeloid Leukaemia, t(3;5)(q25;q34) NPM1-MLF1 FISH |
| M80.38 |
Acute Myeloid Leukaemia, t(5;11)(q35;p15.5) NUP98-NSD1 FISH |
| M80.39 |
Acute Myeloid Leukaemia, t(7;12)(q36;p13) MNX1-ETV6 FISH |
| M80.40 |
Acute Myeloid Leukaemia, inv(16)(p13.3q24.3) CBFA2T3-GLIS2 FISH |
| M80.41 |
Acute Myeloid Leukaemia, t(15;17)(q24;q21) PML-RARA RT-PCR |
| M80.42 |
Acute Myeloid Leukaemia, t(8;21)(q22;q22) RUNX1-RUNX1T1 RT-PCR |
| M80.43 |
Acute Myeloid Leukaemia, inv(16)(p13.1q22) CBFB-MYH11 RT-PCR |
| M80.44 |
Acute Myeloid Leukaemia, t(9;11)(p21;q23) MLLT3-KMT2A & other 11q23.3 (KMT2A) rearrangements RT-PCR |
| M80.45 |
Acute Myeloid Leukaemia, t(6;9)(p22;q34) DEK-NUP214 RT-PCR |
| M80.46 |
Acute Myeloid Leukaemia, inv(3)(q21q26) GATA2-MECOM RT-PCR |
| M80.47 |
Acute Myeloid Leukaemia, t(1;22)(p13;q13) RBM15-MRTFA RT-PCR |
| M80.48 |
Acute Myeloid Leukaemia, t(9;22)(q34;q11) BCR-ABL1 RT-PCR |
| M80.49 |
Acute Myeloid Leukaemia, t(3;5)(q25;q34) NPM1-MLF1 RT-PCR |
| M80.5 |
Acute Myeloid Leukaemia, Other: See tests M80.25-M80.40 for individual specified FISH targets. |
| M80.50 |
Acute Myeloid Leukaemia, t(5;11)(q35;p15.5) NUP98-NSD1 RT-PCR |
| M80.51 |
Acute Myeloid Leukaemia, t(7;12)(q36;p13) MNX1-ETV6 RT-PCR |
| M80.52 |
Acute Myeloid Leukaemia, inv(16)(p13.3q24.3) CBFA2T3-GLIS2 RT-PCR |
| M80.53 |
Acute Myeloid Leukaemia, Multi-target NGS panel, copy number variant (Monosomal karyotype, del5/del5q, del7/del7q, del17/del17p, del12/del12p) |
| M80.54 |
Acute Myeloid Leukaemia, NUP98 rearrangement FISH |
| M80.55 |
Acute Myeloid Leukaemia, MRD BCR-ABL1 RT-qPCR rare |
| M80.56 |
Acute Myeloid Leukaemia, MRD NPM1 RT-qPCR rare |
| M80.57 |
Acute Myeloid Leukaemia, WGS Tumour First |
| M80.58 |
Acute Myeloid Leukaemia, WGS Follow-up Germline |
| M80.7 |
Acute Myeloid Leukaemia, Other RT-PCR: See tests M80.41-80.52 for individual specified RT-PCR targets. |
| M80.8 |
Acute Myeloid Leukaemia, Multi-target NGS panel, structural variant (To include detection of Complex karyotype) |
| M80.9 |
Acute Myeloid Leukaemia, MRD NPM1 RT-qPCR |
| M81.1 |
Transient Abnormal Myelopoiesis, Multi-target NGS panel, small variant (GATA1) |
| M82.1 |
Myelodysplasia, Multi-target NGS panel, small variant (TP53, SF3B1, IDH1, IDH2, NRAS, KRAS, TET2, SRSF2, ASXL1, DNMT3A, RUNX1, U2AF1, EZH2, BCOR, PTPN11, JAK2, SETBP1, PPM1D, DDX41, PHF6, CUX1, UBA1) |
| M82.10 |
Myelodysplasia, Chr13/Chr13q copy number FISH |
| M82.11 |
Myelodysplasia, Chr11q copy number FISH |
| M82.12 |
Myelodysplasia, Chr12p copy number FISH, t(12p) rearrangement FISH |
| M82.13 |
Myelodysplasia, Chr9q copy number FISH |
| M82.14 |
Myelodysplasia, Chr17/Chr17p copy number FISH |
| M82.15 |
Myelodysplasia, idic(X)(q13) FISH |
| M82.16 |
Myelodysplasia, Multi-target NGS panel, copy number variant (-7/del7q, -5/del5q, -13/del13q, del11q, del12p, del9q, del17/del17p & idic(X)(q13);-Y; del 20q; +8; +19,del(3q) |
| M82.17 |
Myelodysplasia, Multi-target NGS panel, structural variant (t(12p), t(17p);inv(3)/t(3q)/del(3q) |
| M82.18 |
Myelodysplasia, ChrY copy number FISH |
| M82.19 |
Myelodysplasia, Chr20/20q copy number FISH |
| M82.2 |
Myelodysplasia, Karyotype (To include detection of complex karyotype, -7/del7q, -5/del5q, i(17q)/t(17p), -13/del13q, del11q, del12p/t(12p), del9q, del17/del17p & idic(X)(q13)); -Y; del 20q; +8; +19,(inv(3)/t(3q)/del(3q)) |
| M82.20 |
Myelodysplasia, Chr8 copy number FISH |
| M82.21 |
Myelodysplasia, Chr19 copy number FISH |
| M82.22 |
Myelodysplasia, inv(3)/t(3q)/del(3q) |
| M82.23 |
Myelodysplasia, WGS Tumour First |
| M82.24 |
Myelodysplasia, WGS Follow-up Germline |
| M82.4 |
Myelodysplasia, FISH copy number and rearrangement Other: See tests M82.7 -M82.22 for individual specified FISH targets. |
| M82.6 |
Myelodysplasia, WGS Germline and Tumor |
| M82.7 |
Myelodysplasia, Chr7/Chr7q copy number FISH |
| M82.8 |
Myelodysplasia, Chr5/Chr5q copy number FISH |
| M82.9 |
Myelodysplasia, i(17q)/t(17p) FISH |
| M83.1 |
Aplastic Anaemia, Karyotype (Genomewide) |
| M83.3 |
Aplastic Anaemia, FISH copy number and rearrangement |
| M83.4 |
Aplastic Anaemia, WGS Germline and Tumor |
| M83.5 |
Aplastic Anaemia, WGS Tumour First |
| M83.6 |
Aplastic Anaemia, WGS Follow-up Germline |
| M84.1 |
Chronic Myeloid Leukaemia, BCR-ABL1 multiplex |
| M84.11 |
Chronic Myeloid Leukaemia, WGS Germline and Tumor |
| M84.12 |
Chronic Myeloid Leukaemia, Chr8 copy number FISH |
| M84.13 |
Chronic Myeloid Leukaemia, Chr19 copy number FISH |
| M84.14 |
Chronic Myeloid Leukaemia, Chr7/Chr7q copy number FISH |
| M84.15 |
Chronic Myeloid Leukaemia, Chr5/Chr5q copy number FISH |
| M84.16 |
Chronic Myeloid Leukaemia, i(17q) FISH |
| M84.17 |
Chronic Myeloid Leukaemia, Chr12p copy number FISH |
| M84.18 |
Chronic Myeloid Leukaemia, t(9;22)(q34;q11) BCR-ABL1 FISH and related abnormalities i.e. 2nd Ph+[+der(22)t(9;22)(q34;q11)], Ider(22)(q10)t(9;22)(q34;q11) |
| M84.19 |
Chronic Myeloid Leukaemia, Inv(3) MECOM FISH |
| M84.2 |
Chronic Myeloid Leukaemia, MRD BCR-ABL1 RT-qPCR |
| M84.20 |
Chronic Myeloid Leukaemia, 11q23 (KMT2A) rearrangement FISH |
| M84.21 |
Chronic Myeloid Leukaemia, Multi-target NGS panel, copy number variant (trisomy 8, trisomy 19, -7/7q, -5/5q, i(17q), 12p-) |
| M84.22 |
Chronic Myeloid Leukaemia, Multi-target NGS panel, structural variant (To include detection of t(9;22)(q34;q11) BCR-ABL1, 2nd Ph+[+der(22)t(9;22)(q34;q11)], Ider(22)(q10)t(9;22)(q34;q11), inv(3), 11q23 rearrangements) |
| M84.23 |
Chronic Myeloid Leukaemia, MRD BCR-ABL1 RT-qPCR rare |
| M84.24 |
Chronic Myeloid Leukaemia, WGS Tumour First |
| M84.25 |
Chronic Myeloid Leukaemia, WGS Follow-up Germline |
| M84.3 |
Chronic Myeloid Leukaemia, BCR-ABL1 FISH |
| M84.4 |
Chronic Myeloid Leukaemia, Karyotype (To include detection of trisomy 8, trisomy 19, -7/7q, -5/5q, i(17q), 12p-& t(9;22)(q34;q11) BCR-ABL1, 2nd Ph+[+der(22)t(9;22)(q34;q11)], ider(22)(q10)t(9;22)(q34;q11), inv(3), 11q23 rearrangements) |
| M84.6 |
Chronic Myeloid Leukaemia, FISH copy number and rearrangement Other: See tests M84.12 M84.20 for individual specified FISH targets. |
| M84.8 |
Chronic Myeloid Leukaemia, BCR-ABL1 TKD NGS |
| M85.1 |
Myeloproliferative Neoplasm, Multi-target NGS limited panel, small variant (JAK2, CALR, MPL) |
| M85.10 |
Myeloproliferative Neoplasm, PCM1-JAK2 FISH/RT-PCR |
| M85.11 |
Myeloproliferative Neoplasm, BCR-ABL1 multiplex |
| M85.12 |
Myeloproliferative Neoplasm, Other RT-PCR |
| M85.13 |
Myeloproliferative Neoplasm, WGS Germline and Tumor |
| M85.14 |
Myeloproliferative Neoplasm, JAK2 V617F hotspot |
| M85.15 |
Myeloproliferative Neoplasm, JAK2 exon 12 hotspot |
| M85.16 |
Myeloproliferative Neoplasm, CALR exon 9 hotspot |
| M85.17 |
Myeloproliferative Neoplasm, MPL exon 10 hotspot |
| M85.19 |
Myeloproliferative Neoplasm, Chr8 copy number FISH |
| M85.2 |
Myeloproliferative Neoplasm, Multi-target NGS panel, small variant |
| M85.20 |
Myeloproliferative Neoplasm, Chr7/Chr7q copy number FISH |
| M85.21 |
Myeloproliferative Neoplasm, Chr5/Chr5q copy number FISH |
| M85.22 |
Myeloproliferative Neoplasm, i(17q) FISH |
| M85.23 |
Myeloproliferative Neoplasm, Chr12p copy number FISH |
| M85.24 |
Myeloproliferative Neoplasm, t(9;22)(q34;q11) BCR-ABL1 FISH |
| M85.25 |
Myeloproliferative Neoplasm, PDGFRA rearrangement FISH (other than FIP1L1-PDGFRA see M85.7) |
| M85.26 |
Myeloproliferative Neoplasm, PDGFRB rearrangement FISH (other than ETV6-PDGFRB see M85.9) |
| M85.27 |
Myeloproliferative Neoplasm, FGFR1 rearrangement FISH |
| M85.28 |
Myeloproliferative Neoplasm, JAK2 rearrangement FISH (other than PCM1-JAK2 see M85.10) |
| M85.29 |
Myeloproliferative Neoplasm, inv(3)/t(3;3) FISH |
| M85.3 |
Myeloproliferative Neoplasm, Karyotype (To include detection of complex karyotype) |
| M85.30 |
Myeloproliferative Neoplasm, 11q23 rearrangement FISH |
| M85.31 |
Myeloproliferative Neoplasm, ABL1 rearrangement FISH (other than BCR-ABL1 see M85.24) |
| M85.32 |
Myeloproliferative Neoplasm, FLT3 rearragement FISH |
| M85.33 |
Myeloproliferative Neoplasm, RET rearrangement FISH |
| M85.34 |
Myeloproliferative Neoplasm, NTRK3 rearrangement FISH |
| M85.35 |
Myeloproliferative Neoplasm, Multi-target NGS panel, structural variant |
| M85.36 |
Myeloproliferative Neoplasm, Multi-target NGS panel, copy number variant (cryptic deletion of 4q12, trisomy 8, -7/7q, -5/5q, i(17q), 12p-) |
| M85.37 |
Myeloproliferative Neoplasm, WGS Tumour First |
| M85.38 |
Myeloproliferative Neoplasm, WGS Follow-up Germline |
| M85.5 |
Myeloproliferative Neoplasm, FISH copy number and rearrangement Other: See tests M85.18 -M85.34 for individual specified FISH targets. |
| M85.7 |
Myeloproliferative Neoplasm, FIP1L1-PDGFRA (4q12) FISH/RT-PCR |
| M85.8 |
Myeloproliferative Neoplasm, FIP1L1-PDGFRA RT-qPCR |
| M85.9 |
Myeloproliferative Neoplasm, ETV6-PDGFRB FISH/RT-PCR |
| M86.1 |
Systemic Mastocytosis, Multi-target NGS panel, small variant (KIT) |
| M86.2 |
Systemic Mastocytosis, KIT D816 QF-PCR |
| M86.3 |
Systemic Mastocytosis, WGS Germline and Tumor |
| M86.4 |
Systemic Mastocytosis, WGS Tumour First |
| M86.5 |
Systemic Mastocytosis, WGS Follow-up Germline |
| M87.1 |
Chronic Neutrophilic Leukaemia, Multi-target NGS panel, small variant (CSF3R) |
| M88.1 |
Juvenile Myelomonocytic Leukaemia, Multi-target NGS panel, small variant (PTPN11, KRAS, NRAS, NF1, CBL) |
| M88.10 |
Juvenile Myelomonocytic Leukaemia, Multi-target NGS panel, copy number variant (-7/del7q, -5/del5q, trisomy 8) |
| M88.11 |
Juvenile Myelomonocytic Leukaemia, WGS Tumour First |
| M88.12 |
Juvenile Myelomonocytic Leukaemia, WGS Follow-up Germline |
| M88.2 |
Juvenile Myelomonocytic Leukaemia, WGS Germline and Tumor |
| M88.3 |
Juvenile Myelomonocytic Leukaemia, Multi-target NGS panel, small variant |
| M88.4 |
Juvenile Myelomonocytic Leukaemia, Karyotype |
| M88.5 |
Juvenile Myelomonocytic Leukaemia, FISH copy number and rearrangement Other: See tests M88.7-M88.9 for individual specified FISH targets. |
| M88.7 |
Juvenile Myelomonocytic Leukaemia, Chr8 copy number FISH |
| M88.8 |
Juvenile Myelomonocytic Leukaemia, Chr7/Chr7q copy number FISH |
| M88.9 |
Juvenile Myelomonocytic Leukaemia, Chr5/Chr5q copy number FISH |
| M89.1 |
Acute Leukaemia Other, WGS Germline and Tumor |
| M89.10 |
Acute Leukaemia Other, MRD PML-RARA RT-qPCR |
| M89.100 |
Acute Leukaemia Other, t(7;11)(p15;p15) NUP98-HOXA13 RT-PCR |
| M89.101 |
Acute Leukaemia Other, t(10;14)(q24;q11) TLX1-TRD RT-PCR |
| M89.102 |
Acute Leukaemia Other, t(7;10)(q34;q24) TRB-TLX1 RT-PCR |
| M89.103 |
Acute Leukaemia Other, t(5;14)(q35;q32.2) BCL11B-TLX3 RT-PCR |
| M89.104 |
Acute Leukaemia Other, Multi-target NGS panel, copy number variant |
| M89.105 |
Acute Leukaemia Other, NUP98 rearrangement FISH |
| M89.106 |
Acute Leukaemia Other, MRD BCR-ABL1 RT-qPCR rare |
| M89.107 |
Acute Leukaemia Other, MRD NPM1 RT-qPCR rare |
| M89.108 |
Acute Leukaemia Other, WGS Tumour First |
| M89.109 |
Acute Leukaemia Other, WGS Follow-up Germline |
| M89.11 |
Acute Leukaemia Other, MRD RUNX1-RUNX1T1 RT-qPCR |
| M89.12 |
Acute Leukaemia Other, MRD CBFB-MYH11 RT-qPCR |
| M89.13 |
Acute Leukaemia Other, MRD BCR-ABL1 RT-qPCR |
| M89.14 |
Acute Leukaemia Other, MRD other QF-PCR |
| M89.15 |
Acute Leukaemia Other, MRD target identification (Ig/TCR gene rearrangement by PCR & sequencing with MRD workup via QF-PCR) |
| M89.16 |
Acute Leukaemia Other, MRD quantification (Ig/TCR gene rearrangement MRD QF-PCR ) |
| M89.17 |
Acute Leukaemia Other, BCR-ABL1 TKD NGS |
| M89.2 |
Acute Leukaemia Other, Karyotype (To include detection of Complex karyotype, Monosomal karyotype) |
| M89.20 |
Acute Leukaemia Other, FLT3 TKD hotspot |
| M89.21 |
Acute Leukaemia Other, NPM1 exon 12 hotspot |
| M89.22 |
Acute Leukaemia Other, IDH1 hotspot |
| M89.23 |
Acute Leukaemia Other, IDH2 hotspot |
| M89.24 |
Acute Leukaemia Other, Chr5/Chr5q copy number FISH |
| M89.25 |
Acute Leukaemia Other, Chr7/Chr7q copy number FISH |
| M89.26 |
Acute Leukaemia Other, Chr17/Chr17p copy number FISH |
| M89.27 |
Acute Leukaemia Other, Chr12/Chr12p copy number FISH |
| M89.28 |
Acute Leukaemia Other, t(15;17)(q24;q21) PML-RARA FISH |
| M89.29 |
Acute Leukaemia Other, t(8;21)(q22;q22) RUNX1-RUNX1T1 FISH |
| M89.3 |
Acute Leukaemia Other, FISH copy number and rearrangement other |
| M89.30 |
Acute Leukaemia Other, inv(16)(p13.1q22) CBFB-MYH11 FISH |
| M89.31 |
Acute Leukaemia Other, t(9;11)(p21;q23) MLLT3-KMT2A & other 11q23.3 ( KMT2A) rearrangements FISH |
| M89.32 |
Acute Leukaemia Other, t(6;9)(p22;q34) DEK-NUP214 FISH |
| M89.33 |
Acute Leukaemia Other, inv(3)(q21q26) GATA2-MECOM FISH |
| M89.34 |
Acute Leukaemia Other, t(1;22)(p13;q13) RBM15-MRTFA FISH |
| M89.35 |
Acute Leukaemia Other, t(9;22)(q34;q11) BCR-ABL1 FISH |
| M89.36 |
Acute Leukaemia Other, t(3;5)(q25;q34) NPM1-MLF1 FISH |
| M89.37 |
Acute Leukaemia Other, t(5;11)(q35;p15.5) NUP98-NSD1 FISH |
| M89.38 |
Acute Leukaemia Other, t(7;12)(q36;p13) MNX1-ETV6 FISH |
| M89.39 |
Acute Leukaemia Other, inv(16)(p13.3q24.3) CBFA2T3-GLIS2 FISH |
| M89.4 |
Acute Leukaemia Other, Multi-target NGS panel, small variant (NPM1, CEBPA, RUNX1, FLT3, IDH1, IDH2, KIT, WT1, ASXL1, SRSF2, STAG2, RAD21, TP53, KRAS, NRAS, KMT2A(MLL)-PTD, PPM1D, ETV6, NOTCH1, FBXW7, PTEN, HRAS) |
| M89.40 |
Acute Leukaemia Other, Global copy number change FISH (i.e. hyperdiploidy, high hyperdiploidy, near haploidy, low hypodiploidy) |
| M89.41 |
Acute Leukaemia Other, del(1)(p33p33) FISH |
| M89.42 |
Acute Leukaemia Other, iAMP21 FISH |
| M89.5 |
Acute Leukaemia Other, FLT3 ITD |
| M89.52 |
Acute Leukaemia Other, t(12;21)(p13;q22) ETV6-RUNX1 FISH |
| M89.53 |
Acute Leukaemia Other, t(1;19)(q23;p13) TCF3-PBX1 FISH |
| M89.54 |
Acute Leukaemia Other, t(17;19)(q22;p13) TCF3-HLF FISH |
| M89.55 |
Acute Leukaemia Other, t(4;11)(q21;q23) KMT2A-AFF1 FISH |
| M89.56 |
Acute Leukaemia Other, t(11;19)(q23;p13.3) KMT2A-MLLT1 FISH |
| M89.57 |
Acute Leukaemia Other, t(6;11)(q27;q23) KMT2A-AFDN FISH |
| M89.58 |
Acute Leukaemia Other, t(10;11)(p12;q23) KMT2A-MLLT10 FISH |
| M89.59 |
Acute Leukaemia Other, t(11;19)(q23;p13.1) KMT2A-ELL FISH |
| M89.6 |
Acute Leukaemia Other, Other RT-PCR |
| M89.60 |
Acute Leukaemia Other, t(1;7)(p32;q11) TRB-TAL1 FISH |
| M89.61 |
Acute Leukaemia Other, t(11;14)(p15;q11) TRD-LMO1 FISH |
| M89.62 |
Acute Leukaemia Other, t(7;11)(p15;p15) NUP98-HOXA13 FISH |
| M89.63 |
Acute Leukaemia Other, t(10;14)(q24;q11) TLX1-TRD FISH |
| M89.64 |
Acute Leukaemia Other, t(7;10)(q34;q24) TRB-TLX1 FISH |
| M89.65 |
Acute Leukaemia Other, t(5;14)(q35;q32.2) BCL11B-TLX3 FISH |
| M89.66 |
Acute Leukaemia Other, TAL1 rearrangement FISH (other than TRB-TAL1 see M91.45) |
| M89.67 |
Acute Leukaemia Other, TLX1 rearrangement FISH (other than TLX1-TRD & TRB-TLX1 see M91.48 & M91.49) |
| M89.68 |
Acute Leukaemia Other, PDGFRA rearrangement FISH |
| M89.69 |
Acute Leukaemia Other, PDGFRB rearrangement FISH |
| M89.7 |
Acute Leukaemia Other, Multi-target NGS panel, structural variant |
| M89.70 |
Acute Leukaemia Other, ABL1 rearrangement FISH (other than BCR-ABL1 see M91.10) |
| M89.71 |
Acute Leukaemia Other, JAK2 rearrangement FISH |
| M89.72 |
Acute Leukaemia Other, KMT2A rearrangement FISH (other than specific rearrangements described in tests M91.30-91,44) |
| M89.73 |
Acute Leukaemia Other, ABL2 rearrangement FISH |
| M89.74 |
Acute Leukaemia Other, CSF1R rearrangement FISH |
| M89.75 |
Acute Leukaemia Other, 14q32 (IGH) rearrangement FISH |
| M89.76 |
Acute Leukaemia Other, CRLF2 rearrangement FISH |
| M89.77 |
Acute Leukaemia Other, EPOR rearrangement FISH |
| M89.78 |
Acute Leukaemia Other, t(15;17)(q24;q21) PML-RARA RT-PCR |
| M89.79 |
Acute Leukaemia Other, t(8;21)(q22;q22) RUNX1-RUNX1T1 RT-PCR |
| M89.8 |
Acute Leukaemia Other, BCR-ABL1 multiplex |
| M89.80 |
Acute Leukaemia Other, inv(16)(p13.1q22) CBFB-MYH11 RT-PCR |
| M89.81 |
Acute Leukaemia Other, t(9;11)(p21;q23) MLLT3-KMT2A & other 11q23.3 (KMT2A) rearrangements RT-PCR |
| M89.82 |
Acute Leukaemia Other, t(6;9)(p22;q34) DEK-NUP214 RT-PCR |
| M89.83 |
Acute Leukaemia Other, inv(3)(q21q26) GATA2-MECOM RT-PCR |
| M89.84 |
Acute Leukaemia Other, t(1;22)(p13;q13) RBM15-MRTFA RT-PCR |
| M89.85 |
Acute Leukaemia Other, t(9;22)(q34;q11) BCR-ABL1 RT-PCR |
| M89.86 |
Acute Leukaemia Other, t(3;5)(q25;q34) NPM1-MLF1 RT-PCR |
| M89.87 |
Acute Leukaemia Other, t(5;11)(q35;p15.5) NUP98-NSD1 RT-PCR |
| M89.88 |
Acute Leukaemia Other, t(7;12)(q36;p13) MNX1-ETV6 RT-PCR |
| M89.89 |
Acute Leukaemia Other, inv(16)(p13.3q24.3) CBFA2T3-GLIS2 RT-PCR |
| M89.9 |
Acute Leukaemia Other, MRD NPM1 RT-qPCR |
| M89.90 |
Acute Leukaemia Other, t(12;21)(p13;q22) ETV6-RUNX1 RT-PCR |
| M89.91 |
Acute Leukaemia Other, t(1;19)(q23;p13) TCF3-PBX1 RT-PCR |
| M89.92 |
Acute Leukaemia Other, t(17;19)(q22;p13) TCF3-HLF RT-PCR |
| M89.93 |
Acute Leukaemia Other, t(4;11)(q21;q23) KMT2A-AFF1 RT-PCR |
| M89.94 |
Acute Leukaemia Other, t(11;19)(q23;p13.3) KMT2A-MLLT1 RT-PCR |
| M89.95 |
Acute Leukaemia Other, t(6;11)(q27;q23) KMT2A-AFDN RT-PCR |
| M89.96 |
Acute Leukaemia Other, t(10;11)(p12;q23) KMT2A-MLLT10 RT-PCR |
| M89.97 |
Acute Leukaemia Other, t(11;19)(q23;p13.1) KMT2A-ELL RT-PCR |
| M89.98 |
Acute Leukaemia Other, t(1;7)(p32;q11) TRB-TAL1 RT-PCR |
| M89.99 |
Acute Leukaemia Other, t(11;14)(p15;q11) TRD-LMO1 RT-PCR |
| M9.1 |
Thyroid Papillary Carcinoma, Adult, Multi-target NGS panel, small variant (BRAF, KRAS, NRAS, HRAS, TERT promoter) |
| M9.2 |
Thyroid Papillary Carcinoma, Adult, Multi-target NGS panel, structural variant (RET, NTRK1, NTRK2, NTRK3) |
| M9.3 |
Thyroid Papillary Carcinoma, Adult, RET rearrangement FISH/RT-PC |
| M9.4 |
Thyroid Papillary Carcinoma, Adult, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3) |
| M9.6 |
Thyroid Papillary Carcinoma, Adult, TERT promoter hotspot |
| M90.1 |
Blastic Plasmacytoid Dendritic Cell Neoplasm, WGS Germline and Tumor |
| M90.2 |
Blastic Plasmacytoid Dendritic Cell Neoplasm, Karyotype (Genomewide) |
| M90.3 |
Blastic Plasmacytoid Dendritic Cell Neoplasm, FISH copy number and rearrangement |
| M90.4 |
Blastic Plasmacytoid Dendritic Cell Neoplasm, Multi-target NGS panel, small variant (NPM1, CEBPA, RUNX1, FLT3, IDH1, IDH2, KIT, WT1, ASXL1, SRSF2, STAG2, RAD21, TP53, KRAS, NRAS, KMT2A(MLL)-PTD) |
| M90.5 |
Blastic Plasmacytoid Dendritic Cell Neoplasm, FLT3 ITD |
| M90.6 |
Blastic Plasmacytoid Dendritic Cell Neoplasm, WGS Tumour First |
| M90.7 |
Blastic Plasmacytoid Dendritic Cell Neoplasm, WGS Follow-up Germline |
| M91.1 |
Acute Lymphoblastic Leukaemia, WGS Germline and Tumor |
| M91.10 |
Acute Lymphoblastic Leukaemia, BCR-ABL1 FISH |
| M91.11 |
Acute Lymphoblastic Leukaemia, BCR-ABL1 TKD NGS |
| M91.14 |
Acute Lymphoblastic Leukaemia, MRD ALL RT-qPCR |
| M91.15 |
Acute Lymphoblastic Leukaemia, Multi-target NGS panel, small variant (ETV6, NOTCH1, FBXW7, TP53, PTEN, KRAS, NRAS, HRAS) |
| M91.2 |
Acute Lymphoblastic Leukaemia, Karyotype (To include detection of complex karyotype, hyperdiploidy, high hyperdiploidy, near haploidy, low hypodiploidy etc) |
| M91.22 |
Acute Lymphoblastic Leukaemia, MRD target identification (Ig/TCR gene rearrangement by PCR & sequencing with MRD workup via QF-PCR) |
| M91.23 |
Acute Lymphoblastic Leukaemia, MRD quantification (Ig/TCR gene rearrangement MRD QF-PCR) |
| M91.24 |
Acute Lymphoblastic Leukaemia, Global copy number change FISH (i.e. hyperdiploidy, high hyperdiploidy, near haploidy, low hypodiploidy) |
| M91.25 |
Acute Lymphoblastic Leukaemia, del(1)(p33p33) FISH |
| M91.26 |
Acute Lymphoblastic Leukaemia, iAMP21 FISH |
| M91.36 |
Acute Lymphoblastic Leukaemia, t(12;21)(p13;q22) ETV6-RUNX1 FISH |
| M91.37 |
Acute Lymphoblastic Leukaemia, t(1;19)(q23;p13) TCF3-PBX1 FISH |
| M91.38 |
Acute Lymphoblastic Leukaemia, t(17;19)(q22;p13) TCF3-HLF FISH |
| M91.39 |
Acute Lymphoblastic Leukaemia, t(4;11)(q21;q23) KMT2A-AFF1 FISH |
| M91.4 |
Acute Lymphoblastic Leukaemia, FISH copy number and rearrangement other: See tests M91.24-M91.62 for individual specified FISH targets. |
| M91.40 |
Acute Lymphoblastic Leukaemia, t(11;19)(q23;p13.3) KMT2A-MLLT1 FISH |
| M91.41 |
Acute Lymphoblastic Leukaemia, t(6;11)(q27;q23) KMT2A-AFDN FISH |
| M91.42 |
Acute Lymphoblastic Leukaemia, t(9;11)(p21;q23) KMT2A-MLLT3 FISH |
| M91.43 |
Acute Lymphoblastic Leukaemia, t(10;11)(p12;q23) KMT2A-MLLT10 FISH |
| M91.44 |
Acute Lymphoblastic Leukaemia, t(11;19)(q23;p13.1) KMT2A-ELL FISH |
| M91.45 |
Acute Lymphoblastic Leukaemia, t(1;7)(p32;q11) TRB-TAL1 FISH |
| M91.46 |
Acute Lymphoblastic Leukaemia, t(11;14)(p15;q11) TRD-LMO1 FISH |
| M91.47 |
Acute Lymphoblastic Leukaemia, t(7;11)(p15;p15) NUP98-HOXA13 FISH |
| M91.48 |
Acute Lymphoblastic Leukaemia, t(10;14)(q24;q11) TLX1-TRD FISH |
| M91.49 |
Acute Lymphoblastic Leukaemia, t(7;10)(q34;q24) TRB-TLX1 FISH |
| M91.50 |
Acute Lymphoblastic Leukaemia, t(5;14)(q35;q32.2) BCL11B-TLX3 FISH |
| M91.51 |
Acute Lymphoblastic Leukaemia, TAL1 rearrangement FISH (other than TRB-TAL1 see M91.45) |
| M91.52 |
Acute Lymphoblastic Leukaemia, TLX1 rearrangement FISH (other than TLX1-TRD & TRB-TLX1 see M91.48 & M91.49) |
| M91.53 |
Acute Lymphoblastic Leukaemia, PDGFRA rearrangement FISH |
| M91.54 |
Acute Lymphoblastic Leukaemia, PDGFRB rearrangement FISH |
| M91.55 |
Acute Lymphoblastic Leukaemia, ABL1 rearrangement FISH (other than BCR-ABL1 see M91.10) |
| M91.56 |
Acute Lymphoblastic Leukaemia, JAK2 rearrangement FISH |
| M91.57 |
Acute Lymphoblastic Leukaemia, KMT2A rearrangement FISH (other than specific rearrangements described in tests M91.30-91,44) |
| M91.58 |
Acute Lymphoblastic Leukaemia, ABL2 rearrangement FISH |
| M91.59 |
Acute Lymphoblastic Leukaemia, CSF1R rearrangement FISH |
| M91.6 |
Acute Lymphoblastic Leukaemia, Other RT-PCR: See tests M91-63-M91.77 for individual specified RT-PCR targets |
| M91.60 |
Acute Lymphoblastic Leukaemia, 14q32(IGH) rearrangement FISH |
| M91.61 |
Acute Lymphoblastic Leukaemia, CRLF2 rearrangement FISH |
| M91.62 |
Acute Lymphoblastic Leukaemia, EPOR rearrangement FISH |
| M91.63 |
Acute Lymphoblastic Leukaemia, t(12;21)(p13;q22) ETV6-RUNX1 RT-PCR |
| M91.64 |
Acute Lymphoblastic Leukaemia, t(1;19)(q23;p13) TCF3-PBX1 RT-PCR |
| M91.65 |
Acute Lymphoblastic Leukaemia, t(17;19)(q22;p13) TCF3-HLF RT-PCR |
| M91.66 |
Acute Lymphoblastic Leukaemia, t(4;11)(q21;q23) KMT2A-AFF1 RT-PCR |
| M91.67 |
Acute Lymphoblastic Leukaemia, t(11;19)(q23;p13.3) KMT2A-MLLT1 RT-PCR |
| M91.68 |
Acute Lymphoblastic Leukaemia, t(6;11)(q27;q23) KMT2A-AFDN RT-PCR |
| M91.69 |
Acute Lymphoblastic Leukaemia, t(9;11)(p21;q23) KMT2A-MLLT3 RT-PCR |
| M91.7 |
Acute Lymphoblastic Leukaemia, Multi-target NGS panel, structural variant |
| M91.70 |
Acute Lymphoblastic Leukaemia, t(10;11)(p12;q23) KMT2A-MLLT10 RT-PCR |
| M91.71 |
Acute Lymphoblastic Leukaemia, t(11;19)(q23;p13.1) KMT2A-ELL RT-PCR |
| M91.72 |
Acute Lymphoblastic Leukaemia, t(1;7)(p32;q11) TRB-TAL1 RT-PCR |
| M91.73 |
Acute Lymphoblastic Leukaemia, t(11;14)(p15;q11) TRD-LMO1 RT-PCR |
| M91.74 |
Acute Lymphoblastic Leukaemia, t(7;11)(p15;p15) NUP98-HOXA13 RT-PCR |
| M91.75 |
Acute Lymphoblastic Leukaemia, t(10;14)(q24;q11) TLX1-TRD RT-PCR |
| M91.76 |
Acute Lymphoblastic Leukaemia, t(7;10)q34;q24) TRB-TLX1 RT-PCR |
| M91.77 |
Acute Lymphoblastic Leukaemia, t(5;14)(q35;q32.2) BCL11B-TLX3 RT-PCR |
| M91.78 |
Acute Lymphoblastic Leukaemia, Multi-target NGS panel, copy number variant (to include hyperdiploidy, high hyperdiploidy, near haploidy, low hypodiploidy etc.) |
| M91.79 |
Acute Lymphoblastic Leukaemia, MRD BCR-ABL1 RT-qPCR rare |
| M91.8 |
Acute Lymphoblastic Leukaemia, BCR-ABL1 multiplex |
| M91.80 |
Acute Lymphoblastic Leukaemia, TPMT |
| M91.81 |
Acute Lymphoblastic Leukaemia, NUDT15 |
| M91.82 |
Acute Lymphoblastic Leukaemia, WGS Tumour First |
| M91.83 |
Acute Lymphoblastic Leukaemia, WGS Follow-up Germline |
| M91.84 |
Acute Lymphoblastic Leukaemia, MYC rearrangement FISH |
| M91.85 |
Acute Lymphoblastic Leukaemia, t(8;14)(q34;q32) IGH-MYC FISH |
| M91.86 |
Acute Lymphoblastic Leukaemia, t(2;8)(p12;q24) IGK-MYC FISH |
| M91.87 |
Acute Lymphoblastic Leukaemia, t(8;22)(q24;q11) IGL-MYC FISH |
| M91.88 |
Acute Lymphoblastic Leukaemia, BCL2 rearrangement FISH |
| M91.89 |
Acute Lymphoblastic Leukaemia, BCL6 rearrangement FISH |
| M91.9 |
Acute Lymphoblastic Leukaemia, MRD BCR-ABL1 RT-qPCR |
| M92.1 |
Plasma Cell Dyscrasia, Multi-target NGS panel, small variant (KRAS, NRAS, BRAF, TP53, DIS3, TENT5C, IRF4) |
| M92.10 |
Plasma Cell Dyscrasia, del(1p) copy number FISH |
| M92.11 |
Plasma Cell Dyscrasia, gain(1q) copy number FISH |
| M92.12 |
Plasma Cell Dyscrasia, del(17p) TP53 copy number FISH |
| M92.13 |
Plasma Cell Dyscrasia, Multi-target NGS panel (To include hyperdiploidy, del(1p), gain(1q), del17p) |
| M92.14 |
Plasma Cell Dyscrasia, MYC rearrangement FISH |
| M92.2 |
Plasma Cell Dyscrasia, t(4;14) IGH-FGFR3FISH/RT-PCR |
| M92.3 |
Plasma Cell Dyscrasia, t(6;14) IGH-CCND3 FISH/RT-PCR |
| M92.4 |
Plasma Cell Dyscrasia, t(11;14)(q13;q32) IGH-CCND1 FISH/RT-PCR |
| M92.5 |
Plasma Cell Dyscrasia, t(14;16) IGH-MAF FISH/RT-PCR |
| M92.6 |
Plasma Cell Dyscrasia, t(14;20) IGH-MAFB FISH/RT-PCR |
| M92.7 |
Plasma Cell Dyscrasia, Multi-target NGS panel, structural variant (To include IGH-FGFR3, IGH-CCND3, IGH-CCND1, IGH-MAF, IGH-MAFB, MYC rearrangements) |
| M92.8 |
Plasma Cell Dyscrasia, IGH rearrangement FISH |
| M92.9 |
Plasma Cell Dyscrasia, Hyperdiploidy copy number FISH |
| M93.3 |
Lymphoma, WGS Germline and Tumor |
| M93.4 |
Lymphoma, WGS Tumour First |
| M93.5 |
Lymphoma, WGS Follow-up Germline |
| M93.6 |
Lymphoma, Multi-target NGS panel-small variant (BTK, PLCG2, RAS, MAP2K1, BCL2) |
| M94.1 |
Chronic Lymphocytic Leukaemia, Multi-target NGS panel, small variant (TP53,BTK, PLCG2, BCL2) |
| M94.10 |
Chronic Lymphocytic Leukaemia, chromosome 12 copy number FISH |
| M94.2 |
Chronic Lymphocytic Leukaemia, Multi-target NGS panel, copy number variant (TP53,ATM, DLEU2/7, RB1, trisomy 12) |
| M94.4 |
Chronic Lymphocytic Leukaemia, del(17p) TP53 copy number FISH |
| M94.5 |
Chronic Lymphocytic Leukaemia, Ig gene (heavy & light chain) rearrangement & hypermutation detection multiplex seq |
| M94.6 |
Chronic Lymphocytic Leukaemia, Ig gene (heavy & light chain) rearrangement & hypermutation detection NGS |
| M94.7 |
Chronic Lymphocytic Leukaemia, TP53 seq |
| M94.8 |
Chronic Lymphocytic Leukaemia, 11q copy number FISH |
| M94.9 |
Chronic Lymphocytic Leukaemia, 13q copy number FISH |
| M95.1 |
B Cell Non-Hodgkin Lymphoma, Ig gene (heavy & light chain) rearrangement & hypermutation detection multiplex seq |
| M95.10 |
B Cell Non-Hodgkin Lymphoma, WGS Tumour First |
| M95.11 |
B Cell Non-Hodgkin Lymphoma, WGS Follow-up Germline |
| M95.12 |
B cell Non-Hodgkin Lymphoma, MYD88 (L265P) hotspot |
| M95.2 |
B Cell Non-Hodgkin Lymphoma, Ig gene (heavy & light chain) rearrangement & hypermutation detection NGS |
| M95.3 |
B Cell Non-Hodgkin Lymphoma, Ig rearrangement FISH |
| M95.4 |
B Cell Non-Hodgkin Lymphoma, Multi-target NGS panel, small variant (EZH2) |
| M95.5 |
B Cell Non-Hodgkin Lymphoma, EZH2 copy number FISH |
| M95.6 |
B Cell Non-Hodgkin Lymphoma, Multi-target NGS panel, small variant (BTK, PLCG2) |
| M95.7 |
B Cell Non-Hodgkin Lymphoma, WGS Germline and Tumor |
| M95.8 |
B Cell Non-Hodgkin Lymphoma, Multi-target NGS panel, structural variant (Ig) |
| M95.9 |
B Cell Non-Hodgkin Lymphoma, Mutli-target NGS panel, copy number (EZH2) |
| M96.1 |
Burkitt Lymphoma, MYC rearrangement FISH |
| M96.10 |
Burkitt Lymphoma, WGS Follow-up Germline |
| M96.2 |
Burkitt Lymphoma, t(8;14)(q34;q32) IGH-MYC FISH/RT-PCR |
| M96.3 |
Burkitt Lymphoma, t(2;8)(p12;q24) IGK-MYC FISH/RT-PCR |
| M96.4 |
Burkitt Lymphoma, t(8;22)(q24;q11) IGL-MYC FISH/RT-PCR |
| M96.5 |
Burkitt Lymphoma, BCL2 rearrangement FISH |
| M96.6 |
Burkitt Lymphoma, BCL6 rearrangement FISH |
| M96.7 |
Burkitt Lymphoma, WGS Germline and Tumor |
| M96.8 |
Burkitt Lymphoma, Multi-target NGS panel, structural variant (IGH-MYC, IGK-MYC, IGL-MYC, other rearrangements of MYC, BCL2, BCL6) |
| M96.9 |
Burkitt Lymphoma, WGS Tumour First |
| M97.1 |
Burkitt Like Lymphoma with 11q Abnormalities, 11q copy number FISH |
| M97.2 |
Burkitt Like Lymphoma with 11q Abnormalities, WGS Germline and Tumor |
| M97.3 |
Burkitt Like Lymphoma with 11q Abnormalities, Multi-target NGS panel, copy number variant (11q) |
| M97.4 |
Burkitt Like Lymphoma with 11q Abnormalities, WGS Tumour First |
| M97.5 |
Burkitt Like Lymphoma with 11q Abnormalities, WGS Follow-up Germline |
| M98.1 |
Large B Cell Like Lymphoma with IRF4 Rearrangement, IRF4 rearrangement FISH |
| M98.2 |
Large B Cell Like Lymphoma with IRF4 Rearrangement, WGS Germline and Tumor |
| M98.3 |
Large B Cell Like Lymphoma with IRF4 Rearrangement, Multi-target NGS panel, structural variant (IRF4) |
| M98.4 |
Large B Cell Like Lymphoma with IRF4 Rearrangement, WGS Tumour First |
| M98.5 |
Large B Cell Like Lymphoma with IRF4 Rearrangement, WGS Follow-up Germline |
| M99.1 |
High Grade Lymphoma, MYC rearrangement FISH |
| M99.10 |
High Grade Lymphoma, WGS Tumour First |
| M99.11 |
High Grade Lymphoma, WGS Follow-up Germline |
| M99.2 |
High Grade Lymphoma, t(8;14)(q34;q32) IGH-MYC FISH/RT-PCR |
| M99.3 |
High Grade Lymphoma, t(2;8)(p12;q24) IGK-MYC FISH/RT-PCR |
| M99.4 |
High Grade Lymphoma, t(8;22)(q24;q11) IGL-MYC FISH/RT-PCR |
| M99.5 |
High Grade Lymphoma, BCL2 rearrangement FISH |
| M99.6 |
High Grade Lymphoma, t(14;18)(q32;q21) IGH-BCL2 FISH/RT-PCR |
| M99.7 |
High Grade Lymphoma, BCL6 rearrangement FISH |
| M99.8 |
High Grade Lymphoma, WGS Germline and Tumor |
| M99.9 |
High Grade Lymphoma, Mutli-target NGS panel, structural variant (IGH-MYC, IGK-MYC, IGL-MYC, IGH-BCL2, other rearrangements of MYC, BCL2, BCL6) |
| R100.3 |
Rare syndromic craniosynostosis or isolated multisuture synostosis (WGS) |
| R101.1 |
Ehlers Danlos syndrome with a likely monogenic cause (WES or Medium Panel) |
| R102.1 |
Osteogenesis imperfecta (WES or Medium Panel) |
| R104.3 |
Skeletal dysplasia (WGS) |
| R104.4 |
Skeletal dysplasia (Small Panel) |
| R105.1 |
MCADD Medium-chain acyl-CoA dehydrogenase deficiency – common variant newborn screening follow up (Targeted variant testing) |
| R106.1 |
Alstrom syndrome (Single gene sequencing >=10 amplicons) |
| R107.1 |
Bardet-Biedl syndrome (WES or Large Panel) |
| R109.3 |
Childhood onset leukodystrophy (WGS) |
| R110.1 |
Segmental overgrowth disorders Deep sequencing (Small panel) |
| R111.1 |
X-inactivation testing (X-inactivation testing) |
| R112.1 |
Factor II deficiency (Single gene sequencing >=10 amplicons) |
| R115.1 |
Factor V deficiency (Single gene sequencing >=10 amplicons) |
| R115.2 |
Factor V deficiency (MLPA or equivalent) |
| R116.1 |
Factor VII deficiency (Single gene sequencing >=10 amplicons) |
| R116.2 |
Factor VII deficiency (MLPA or equivalent) |
| R117.1 |
Factor VIII deficiency (Targeted mutation testing) |
| R117.2 |
Factor VIII deficiency (Single gene sequencing >=10 amplicons) |
| R117.3 |
Factor VIII deficiency (MLPA or equivalent) |
| R118.1 |
Factor IX deficiency (Single gene sequencing >=10 amplicons) |
| R118.2 |
Factor IX deficiency (MLPA or equivalent) |
| R119.1 |
Factor X deficiency (Single gene sequencing <10 amplicons) |
| R119.2 |
Factor X deficiency (MLPA or equivalent) |
| R120.1 |
Factor XI deficiency (Single gene sequencing >=10 amplicons) |
| R120.2 |
Factor XI deficiency (MLPA or equivalent) |
| R121.1 |
von Willebrand disease (Single gene sequencing >=10 amplicons) |
| R121.2 |
von Willebrand disease (MLPA or equivalent) |
| R122.1 |
Factor XIII deficiency (Small panel) |
| R123.1 |
Combined vitamin K-dependent clotting factor deficiency (Small panel) |
| R124.1 |
Combined factor V and VIII deficiency (Small panel) |
| R125.1 |
Thoracic aortic aneurysm or dissection (WES or Medium Panel) |
| R127.1 |
Long QT syndrome (Small panel) |
| R128.1 |
Brugada syndrome and cardiac sodium channel disease (Small panel) |
| R129.1 |
Catecholaminergic polymorphic VT (Small panel) |
| R130.1 |
Short QT syndrome (Small panel) |
| R131.1 |
Hypertrophic cardiomyopathy (WES or Medium Panel) |
| R132.1 |
Dilated and Arrhythmogenic cardiomyopathy (WES or Medium Panel) |
| R133.1 |
Arrhythmogenic right ventricular cardiomyopathy (Small panel) |
| R134.1 |
Familial hypercholesterolaemia (Small panel) |
| R135.2 |
Paediatric or syndromic cardiomyopathy (WGS) |
| R135.3 |
Paediatric or syndromic cardiomyopathy (WES) |
| R136.1 |
Primary lymphoedema (WES or Medium Panel) |
| R137.1 |
Congenital heart disease microarray (Microarray) |
| R138.1 |
Sudden unexplained death or survivors of a cardiac event (WES or Medium Panel) |
| R139.1 |
Laterality disorders and isomerism (WES or Medium Panel) |
| R14.1 |
Acutely unwell children with a likely monogenic disorder (WGS) |
| R140.1 |
Elastin-related phenotypes (Single gene sequencing >=10 amplicons) |
| R141.1 |
Monogenic diabetes (WES or Medium Panel) |
| R142.1 |
Glucokinase-related fasting hyperglycaemia (Single gene sequencing >=10 amplicons) |
| R143.1 |
Neonatal diabetes (Small panel) |
| R143.3 |
Neonatal diabetes (Methylation testing) |
| R143.4 |
Neonatal diabetes (WGS) |
| R144.1 |
Congenital hyperinsulinism (Single gene sequencing >=10 amplicons) |
| R144.2 |
Congenital hyperinsulinism (Small panel) |
| R145.1 |
Congenital hypothyroidism (WES or Medium panel) |
| R146.1 |
Differences in sex development (Microarray) |
| R146.2 |
Differences of sex development (WES or Medium Panel) |
| R148.1 |
Hypogonadotropic hypogonadism (Small panel) |
| R149.1 |
Severe early-onset obesity (WES or Medium panel) |
| R15.4 |
Primary immunodeficiency or monogenic inflammatory bowel disease (WGS) |
| R15.5 |
Primary immunodeficiency or monogenic inflammatory bowel disease (WES) |
| R150.1 |
Congenital adrenal hypoplasia (Small panel) |
| R151.1 |
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia (Small panel) |
| R153.1 |
Familial hypoparathyroidism (Small panel) |
| R154.1 |
Hypophosphataemia or rickets (Small panel) |
| R155.1 |
Autoimmune Polyendocrine Syndrome (Single gene sequencing >=10 amplicons) |
| R156.1 |
Carney complex (Single gene sequencing >=10 amplicons) |
| R157.1 |
IPEX Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked (Single gene sequencing >=10 amplicons) |
| R158.1 |
Severe insulin resistance and lipodystrophy syndromes (Small panel) |
| R159.1 |
Pituitary hormone deficiency (WES or Medium panel) |
| R16.1 |
Severe combined immunodeficiency with adenosine deaminase deficiency (Single gene sequencing >=10 amplicons) |
| R160.1 |
Primary pigmented nodular adrenocortical disease (Small panel) |
| R162.1 |
Familial tumoral calcinosis (Small panel) |
| R163.1 |
Ectodermal dysplasia (WES or Medium panel) |
| R164.1 |
Epidermolysis bullosa and congenital skin fragility (WES or Medium Panel) |
| R165.1 |
Ichthyosis and erythrokeratoderma (WES or Medium panel) |
| R166.1 |
Palmoplantar keratodermas (WES or Medium panel) |
| R167.1 |
Autosomal recessive primary hypertrophic osteoarthropathy (Small panel) |
| R168.1 |
Non-acute porphyrias (Small panel) |
| R169.1 |
Acute intermittent porphyria (Single gene sequencing >=10 amplicons) |
| R17.1 |
Lymphoproliferative syndrome with absent SAP expression (Single gene sequencing <10 amplicons) |
| R170.1 |
Variegate porphyria (Single gene sequencing >=10 amplicons) |
| R171.1 |
Cholestasis (WES or Medium Panel) |
| R172.1 |
Wilson disease (Single gene sequencing >=10 amplicons) |
| R173.1 |
Polycystic liver disease (WES or Small Panel) |
| R175.1 |
Pancreatitis (Small panel) |
| R176.1 |
Gilbert syndrome (Targeted mutation testing) |
| R18.1 |
Haemophagocytic syndrome with absent XIAP expression (Single gene sequencing >=10 amplicons) |
| R180.1 |
Congenital adrenal hyperplasia diagnostic test (Single gene sequencing >=10 amplicons) |
| R180.2 |
Congenital adrenal hyperplasia diagnostic test (MLPA or equivalent) |
| R181.1 |
Congenital adrenal hyperplasia carrier testing (Targeted mutation testing) |
| R181.2 |
Congenital adrenal hyperplasia carrier testing (MLPA or equivalent) |
| R182.1 |
Hyperthyroidism (Small panel) |
| R183.1 |
Glucocorticoid-remediable aldosteronism (GRA) (Targeted mutation testing) |
| R184.1 |
Cystic fibrosis diagnostic test (Targeted variant testing) |
| R184.2 |
Cystic fibrosis diagnostic test (Single gene sequencing >=10 amplicons) |
| R184.3 |
Cystic fibrosis diagnostic test (MLPA or equivalent) |
| R185.1 |
Cystic fibrosis carrier testing (Targeted mutation testing) |
| R186.1 |
Hereditary haemorrhagic telangiectasia (Small panel) |
| R188.1 |
Pulmonary arterial hypertension (Small panel) |
| R189.1 |
Respiratory ciliopathies including non-CF bronchiectasis (WES or Medium Panel) |
| R19.1 |
Autoimmune lymphoproliferative syndrome with defective apoptosis (Single gene sequencing >=10 amplicons) |
| R190.1 |
Pneumothorax familial (Small panel) |
| R191.1 |
Alpha-1-antitrypsin deficiency (Targeted variant testing) |
| R193.4 |
Cystic renal disease (WGS) |
| R194.1 |
Haematuria (Small panel) |
| R195.3 |
Proteinuric renal disease (WGS) |
| R196.1 |
CFHR5 nephropathy (MLPA or equivalent) |
| R197.1 |
Membranoproliferative glomerulonephritis including C3 glomerulopathy (Small panel) |
| R197.2 |
Membranoproliferative glomerulonephritis including C3 glomerulopathy (MLPA or equivalent) |
| R198.1 |
Renal tubulopathies (WES or Medium Panel) |
| R199.1 |
Congenital anomalies of the kidney and urinary tract familial (Microarray) |
| R20.1 |
Wiskott-Aldrich syndrome (Single gene sequencing >=10 amplicons) |
| R201.1 |
Atypical haemolytic uraemic syndrome (Small panel) |
| R202.1 |
Tubulointerstitial kidney disease (Small panel) |
| R204.1 |
Hereditary Systemic Amyloidosis (Small panel) |
| R207.1 |
Inherited ovarian cancer (without breast cancer) (Small panel) |
| R208.1 |
Inherited breast cancer and ovarian cancer (Single gene sequencing >=10 amplicons) |
| R21.1 |
Fetal anomalies with a likely genetic cause (Common aneuploidy testing) |
| R21.2 |
Fetal anomalies with a likely genetic cause (WES or Large Panel) |
| R21.3 |
Fetal anomalies with a likely genetic cause (Microarray) |
| R210.2 |
Inherited MMR deficiency (Lynch syndrome) (Small panel) |
| R210.4 |
Inherited MMR deficiency (Lynch syndrome) (Methylation testing) |
| R210.6 |
Inherited MMR deficiency (Lynch syndrome) (MLPA or equivalent) |
| R211.1 |
Inherited polyposis and early onset colorectal cancer germline testing (Small panel) |
| R211.3 |
Inherited polyposis and early onset colorectal cancer germline testing (MLPA or equivalent) |
| R212.1 |
Peutz Jeghers Syndrome (Single gene sequencing >=10 amplicons) |
| R213.1 |
PTEN Hamartoma Tumor Syndrome (Single gene sequencing >=10 amplicons) |
| R214.1 |
Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome (Small panel) |
| R215.1 |
Hereditary diffuse gastric cancer (Single gene sequencing >=10 amplicons) |
| R216.1 |
Li Fraumeni Syndrome (Single gene sequencing >=10 amplicons) |
| R217.1 |
Endocrine neoplasia (Small panel) |
| R218.1 |
Multiple endocrine neoplasia type 2 (Single gene sequencing >=10 amplicons) |
| R219.1 |
Retinoblastoma (Single gene sequencing >=10 amplicons) |
| R219.2 |
Retinoblastoma (MLPA or equivalent) |
| R22.1 |
Fetus with a likely chromosomal abnormality (Common aneuploidy testing) |
| R22.2 |
Fetus with a likely chromosomal abnormality (Microarray) |
| R221.1 |
Familial tumours of the nervous system (Small panel) |
| R221.2 |
Familial tumours of the nervous system (MLPA or equivalent) |
| R222.1 |
Neurofibromatosis type 1 (Small panel) |
| R222.2 |
Neurofibromatosis type 1 (MLPA or equivalent) |
| R223.1 |
Inherited phaeochromocytoma and paraganglioma excluding NF1 (Small panel) |
| R224.1 |
Inherited renal cancer (Small panel) |
| R225.1 |
Von Hippel Lindau syndrome (Single gene sequencing >=10 amplicons) |
| R226.1 |
Inherited parathyroid cancer (Single gene sequencing >=10 amplicons) |
| R227.1 |
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome (Small panel) |
| R227.2 |
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome (DNA repair defect testing) |
| R228.1 |
Tuberous sclerosis (Small panel) |
| R228.2 |
Tuberous sclerosis (MLPA or equivalent) |
| R228.3 |
Tuberous sclerosis (Small panel deep sequencing) |
| R229.1 |
Confirmed Fanconi anaemia or Bloom syndrome variant testing (Small panel) |
| R23.1 |
Apert syndrome (Targeted variant testing) |
| R230.1 |
Multiple monogenic benign skin tumours (Small panel) |
| R231.2 |
Neuronal ceroid lipofuscinosis (Small panel) |
| R232.1 |
Haemophagocytic syndrome with absent perforin expression (Single gene sequencing <10 amplicons) |
| R233.1 |
Agammaglobulinaemia with absent BTK expression (Single gene sequencing >=10 amplicons) |
| R234.1 |
Severe combined immunodeficiency with PNP deficiency (Single gene sequencing <10 amplicons) |
| R235.1 |
SCID with features of gamma chain deficiency (Single gene sequencing <10 amplicons) |
| R236.1 |
Pigmentary skin disorders (WES or Large panel) |
| R236.2 |
Pigmentary skin disorders (MLPA or equivalent) |
| R237.1 |
Cutaneous photosensitivity with a likely genetic cause (Small panel) |
| R239.1 |
Incontinentia pigmenti (Single gene sequencing >=10 amplicons) |
| R239.2 |
Incontinentia pigmenti (Targeted variant testing) |
| R24.1 |
Achondroplasia (Targeted variant testing) |
| R240.1 |
Diagnostic testing for known variant(s) (Targeted variant testing) |
| R242.1 |
Predictive testing for known familial variant(s) (Targeted variant testing) |
| R244.1 |
Carrier testing for known familial variant(s) (Targeted variant testing) |
| R246.1 |
Carrier testing at population risk for partners of known carriers of nationally agreed autosomal recessive disorders (Single gene sequencing >=10 amplicons) |
| R249.1 |
NIPD using paternal exclusion testing for very rare conditions where familial variant is known (NIPD) |
| R25.1 |
Thanatophoric dysplasia (Single gene sequencing >=10 amplicons) |
| R250.1 |
NIPD for congenital adrenal hyperplasia CYP21A2 haplotype testing (NIPD) |
| R251.1 |
Non-invasive prenatal sexing (NIPD) |
| R252.1 |
SMA carrier testing at population risk for partners of known carriers (MLPA or equivalent) |
| R253.1 |
Cystic fibrosis newborn screening follow-up (Targeted mutation testing) |
| R254.1 |
Familial melanoma (Small panel) |
| R255.1 |
Epidermodysplasia verruciformis (Small panel) |
| R256.1 |
Nephrocalcinosis or nephrolithiasis (WES or Medium Panel) |
| R257.2 |
Unexplained young onset end-stage renal disease (WGS) |
| R257.3 |
Unexplained young onset end-stage renal disease (WES) |
| R258.1 |
Cytopenia Fanconi breakage testing indicated (DNA repair defect testing) |
| R258.2 |
Cytopenia Fanconi breakage testing indicated (WES or Medium Panel) |
| R259.1 |
Nijmegen breakage syndrome (DNA repair defect testing) |
| R259.2 |
Nijmegen breakage syndrome (Single gene sequencing >=10 amplicons) |
| R26.1 |
Likely common aneuploidy (Common aneuploidy testing) |
| R260.1 |
Fanconi anaemia or Bloom syndrome chromosome breakage testing (DNA repair defect testing) |
| R262.1 |
Corneal dystrophy (WES or Medium panel) |
| R263.1 |
Confirmation of uniparental disomy (UPD testing) |
| R264.1 |
Identity testing (Identity testing) |
| R265.1 |
Chromosomal mosaicism – karyotype / Targeted Chromosome Analysis (Karyotype) |
| R268.1 |
Kagami-Ogata syndrome paternal uniparental disomy 14 (Methylation testing) |
| R27.3, |
Paediatric disorders (WGS) |
| R270.1 |
Smith-Lemli-Opitz syndrome (Single gene sequencing >=10 amplicons) |
| R270.2 |
Smith-Lemli-Opitz syndrome (MLPA or equivalent) |
| R271.1 |
Neuronal ceroid lipofuscinosis type 2 (Single gene sequencing >=10 amplicons) |
| R272.1 |
Gaucher disease (Single gene sequencing >=10 amplicons) |
| R273.1 |
Glycogen storage disease V (Single gene sequencing >=10 amplicons) |
| R274.1 |
Glycogen storage disease (WES or Medium Panel) |
| R275.1 |
Glutaric acidaemia I newborn screening follow up (Single gene sequencing >=10 amplicons) |
| R276.1 |
Lysosomal storage disorder (WES or Medium Panel) |
| R277.1 |
Mucopolysaccharidosis type IH/S (Single gene sequencing >=10 amplicons) |
| R278.1 |
Mucopolysaccharidosis type II (Single gene sequencing >=10 amplicons) |
| R278.2 |
Mucopolysaccharidosis type II (Targeted variant testing) |
| R279.1 |
Isovaleric acidaemia newborn screening follow up (Targeted variant testing) |
| R28.1 |
Congenital malformation and dysmorphism syndromes – microarray only (Microarray) |
| R280.1 |
Krabbe disease – GALC deficiency (Single gene sequencing >=10 amplicons) |
| R280.2 |
Krabbe disease – GALC deficiency (MLPA or equivalent) |
| R281.1 |
Krabbe disease Saposin A deficiency (Single gene sequencing >=10 amplicons) |
| R282.1 |
Niemann-Pick disease type A or B (Single gene sequencing >=10 amplicons) |
| R283.1 |
Phenylketonuria (Single gene sequencing >=10 amplicons) |
| R285.1 |
Sandhoff disease (Single gene sequencing >=10 amplicons) |
| R286.1 |
Tay-Sachs disease (Single gene sequencing >=10 amplicons) |
| R287.1 |
Mucopolysaccharidosis type IVA (Single gene sequencing >=10 amplicons) |
| R288.1 |
GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB (Single gene sequencing >=10 amplicons) |
| R289.1 |
Mucolipidosis II and III Alpha/Beta (Single gene sequencing >=10 amplicons) |
| R290.1 |
Mucopolysaccharidosis type VI (Single gene sequencing >=10 amplicons) |
| R291.1 |
Mucopolysaccharidosis type IIIA (Single gene sequencing >=10 amplicons) |
| R292.1 |
Mucopolysaccharidosis type IIIB (Single gene sequencing >=10 amplicons) |
| R293.1 |
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis (Small Panel) |
| R293.2 |
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis (Methylation testing) |
| R294.1 |
Ataxia telangiectasia DNA repair testing (DNA repair defect testing) |
| R295.1 |
Ataxia telangiectasia variant testing (Single gene sequencing >=10 amplicons) |
| R296.1 |
RNA analysis of variants (Other) |
| R298.1 |
Possible structural or mosaic chromosomal abnormality FISH (FISH) |
| R299.1 |
Possible mitochondrial disorder, mitochondrial DNA rearrangement testing (Other) |
| R299.2 |
Possible mitochondrial disorder, mitochondrial DNA rearrangement testing (Heteroplasmy assessment mitochondrial genome) |
| R299.3 |
Possible mitochondrial disorder, mitochondrial DNA rearrangement testing (Breakpoint mapping mitochondrial genome) |
| R300.1 |
Possible mitochondrial disorder whole mitochondrial genome sequencing (Other) |
| R301.1 |
Possible mitochondrial disorder, mitochondrial DNA depletion testing (Other) |
| R304.1 |
NIPD for cystic fibrosis haplotype testing (NIPD) |
| R305.1 |
NIPD for cystic fibrosis variant testing (NIPD) |
| R306.1 |
NIPD for Apert syndrome variant testing (NIPD) |
| R307.1 |
NIPD for Crouzon syndrome with acanthosis nigricans variant testing (NIPD) |
| R308.1 |
NIPD for FGFR2-related craniosynostosis syndromes variant testing (NIPD) |
| R309.1 |
NIPD for FGFR3-related skeletal dysplasias variant testing (NIPD) |
| R31.3 |
Bilateral congenital or childhood onset cataracts (WGS) |
| R310.1 |
NIPD for Duchenne and Becker muscular dystrophy haplotype testing (NIPD) |
| R311.1 |
NIPD for spinal muscular atrophy variant testing (NIPD) |
| R312.1 |
Parental sequencing for lethal autosomal recessive disorders (WES or Large penel) |
| R313.1 |
Neutropaenia consistent with ELANE variants (Single gene sequencing <10 amplicons) |
| R314.1 |
Ambiguous genitalia (Common aneuploidy testing) |
| R314.2 |
Ambiguous genitalia (Karyotype) |
| R315.1 |
POLG-related disorder (Targeted mutation testing) |
| R315.2 |
POLG-related disorder (Single gene sequencing >=10 amplicons) |
| R316.1 |
Pyruvate dehydrogenase (PDH) deficiency (WES or Medium panel) |
| R317.1 |
Mitochondrial liver disease, including transient infantile liver failure (Small panel) |
| R318.1 |
Recurrent miscarriage with products of conception available for testing (Common aneuploidy testing) |
| R318.2 |
Recurrent miscarriage with products of conception available for testing (Microarray) |
| R319.1 |
Calcium-sensing receptor phenotypes (Single gene sequencing >=10 amplicons) |
| R32.2 |
Retinal disorders (WGS) |
| R320.1 |
Invasive prenatal diagnosis requiring fetal sexing (Common aneuploidy testing) |
| R321.1 |
Maternal cell contamination testing (Identity testing) |
| R322.1 |
Skin fibroblasts to be cultured and stored (Other) |
| R323.1 |
Sitosterolaemia (Small panel) |
| R324.1 |
Familial Chylomicronaemia Syndrome (FCS) (Small panel) |
| R325.1 |
Lysosomal acid lipase deficiency (Single gene sequencing >=10 amplicons) |
| R326.1 |
Vascular skin disorders (WES or Medium panel) |
| R327.1 |
Mosaic skin disorders deep sequencing (Medium panel) |
| R328.1 |
Progressive cardiac conduction disease (WES or Small Panel) |
| R329.1 |
Familial dysalbuminaemic hyperthyroxinaemia (Single gene sequencing >=10 amplicons) |
| R33.1 |
Possible X-linked retinitis pigmentosa (Targeted variant testing) |
| R330.1 |
Alveolar capillary dysplasia with misalignment of pulmonary veins (Single gene sequencing >=10 amplicons) |
| R331.1 |
Intestinal failure or congenital diarrhoea (WES or Small Panel) |
| R332.1 |
Rare genetic inflammatory skin disorders (WES or Medium panel) |
| R333.1 |
Central congenital hypoventilation (STR testing) |
| R333.2 |
Central congenital hypoventilation (Single gene sequencing >=10 amplicons) |
| R334.1 |
Cystinosis (Single gene sequencing >=10 amplicons) |
| R335.1 |
Fabry disease (Single gene sequencing <10 amplicons) |
| R335.2 |
Fabry disease (MLPA or equivalent) |
| R336.1 |
Cerebral vascular malformations (WES or Medium Panel) |
| R337.1 |
CADASIL (Single gene sequencing >=10 amplicons) |
| R338.1 |
Monitoring for G(M)CSF escape variants (Single gene sequencing >=10 amplicons) |
| R340.1 |
Amelogenesis imperfecta (WES or Medium panel) |
| R341.1 |
Hereditary angioedema types I and II (Single gene sequencing >=10 amplicons) |
| R343.1 |
Chromosomal mosaicism microarray (Microarray) |
| R344.1 |
Primary hyperaldosteronism KCNJ5 (Single gene sequencing <10 amplicons) |
| R345.1 |
Facioscapulohumeral muscular dystrophy extended testing (Methylation testing) |
| R345.2 |
Facioscapulohumeral muscular dystrophy extended testing (Single gene sequencing >=10 amplicons) |
| R345.3 |
Facioscapulohumeral muscular dystrophy extended testing (Other) |
| R346.1 |
DNA to be stored (Other) |
| R347.1 |
Inherited predisposition to acute myeloid leukaemia (AML) (Small panel) |
| R350.1 |
MERRF syndrome (Targeted mutation testing) |
| R351.1 |
NARP syndrome or maternally inherited Leigh syndrome (Small panel) |
| R351.2 |
NARP syndrome or maternally inherited Leigh syndrome (Targeted mutation testing) |
| R352.1 |
Mitochondrial DNA maintenance disorder (WES or Medium Panel) |
| R353.1 |
Mitochondrial disorder with complex I deficiency (WES or Medium Panel) |
| R354.1 |
Mitochondrial disorder with complex II deficiency (WES or Small Panel) |
| R355.1 |
Mitochondrial disorder with complex III deficiency (WES or Small Panel) |
| R356.1 |
Mitochondrial disorder with complex IV deficiency (WES or Small Panel) |
| R357.1 |
Mitochondrial disorder with complex V deficiency (WES or Small Panel) |
| R36.2, |
structural eye disease (WGS) |
| R361.1 |
Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing (Small panel) |
| R361.2 |
Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing (MLPA or equivalent) |
| R363.1 |
Inherited predisposition to GIST (Small panel) |
| R364.1 |
DICER1-related cancer predisposition (Single gene sequencing >=10 amplicons) |
| R365.1 |
Fumarate hydratase-related tumour syndromes (Single gene sequencing >=10 amplicons) |
| R366.1 |
Inherited susceptibility to acute lymphoblastoid leukaemia (ALL) (Small panel) |
| R367.1 |
Inherited pancreatic cancer (Small panel) |
| R368.1 |
Hereditary angioedema type III (Targeted variant testing) |
| R370.1 |
Validation of unaccredited findings (Targeted variant testing) |
| R371.1 |
Malignant hyperthermia (small panel) |
| R372.1 |
Newborn screening for sickle cell disease in a transfused baby (Targeted variant testing) |
| R373.1 |
RNA to be stored (Other) |
| R374.1 |
Other sample to be stored (Other) |
| R375.1 |
Family follow-up testing to aid variant interpretation (Targeted variant testing) |
| R376.1 |
Segmental or atypical neurofibromatosis type 1 testing (Single gene sequencing >=10 amplicons) |
| R376.2 |
Segmental or atypical neurofibromatosis type 1 testing (MLPA or equivalent) |
| R38.2 |
Sporadic aniridia (Small panel) |
| R380.1 |
Niemann Pick disease type C (Small panel) |
| R380.2 |
Niemann Pick disease type C (MLPA or equivalent) |
| R381.2 |
Other rare neuromuscular disorders (WGS) |
| R382.1 |
Hypochondroplasia (Targeted mutation testing) |
| R383.1 |
Linkage testing for Huntington disease (Other) |
| R384.1 |
Generalised arterial calcification in infancy (Small panel) |
| R387.1 |
Reanalysis of existing data (Other) |
| R389.1 |
NIPD pre-pregnancy test work-up (NIPD) |
| R39.1 |
Albinism or congenital nystagmus (WES or Medium panel) |
| R390.1 |
Multiple exostoses (Small panel) |
| R390.2 |
Multiple exostoses (MLPA or equivalent) |
| R391.1 |
Barth syndrome (Single gene sequencing >=10 amplicons) |
| R394.1 |
Mitochondrial neurogastrointestinal encephalopathy (Single gene sequencing >=10 amplicons) |
| R395.1 |
Thiamine metabolism dysfunction syndrome 2 (Single gene sequencing <10 amplicons) |
| R396.1 |
Mitochondrial Complex V deficiency, TMEM70 type (Single gene sequencing <10 amplicons) |
| R397.1 |
Maternally inherited cardiomyopathy (Targeted mutation testing) |
| R401.1 |
Common aneuploidy testing prenatal (Common aneuploidy testing) |
| R402.1 |
Premature ovarian insufficiency (Karyotype or equivalent) |
| R402.2 |
Premature ovarian insufficiency (STR testing) |
| R403.1 |
MCADD Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up (Single gene sequencing <10 amplicons) |
| R404.1 |
Testing of unaffected individuals for inherited cancer predisposition syndromes (Single gene sequencing >=10 amplicons) |
| R404.3 |
Testing of unaffected individuals for inherited cancer predisposition syndromes (Small panel) |
| R405.1 |
Hereditary Erythrocytosis (Small panel) |
| R406.1 |
Thrombocythaemia (Small panel) |
| R409.1 |
Linkage testing for recognisable Mendelian disorders (Other) |
| R41.1 |
Optic neuropathy (WES or Medium panel) |
| R41.3 |
Optic neuropathy (Targeted variant testing) |
| R410.1 |
Myotonic dystrophy type 2 (DM2) (STR testing) |
| R411.1 |
Y chromosome microdeletion (Targeted mutation testing or equivalent) |
| R412.1 |
Fetal anomalies with a likely genetic cause non urgent (WES or Large Panel) |
| R413.1 |
Autoinflammatory Disorders (WES or Medium panel) |
| R414.1 |
APC associated Polyposis (Single gene sequencing >=10 amplicons) |
| R416.1 |
Syndromic and non syndromic craniosynostosis involving midline sutures only (metopic, sagittal, metopic & sagittal) (Single gene sequencing <10 amplicons) |
| R417.1 |
Multi Locus Imprinting Disorder (MLPA) |
| R417.2 |
Multi Locus Imprinting Disorder (Small Panel) |
| R419.1 |
Acute Rhabdomyolysis (Medium Panel) |
| R42.1 |
Leber hereditary optic neuropathy (Targeted variant testing) |
| R42.2 |
Leber hereditary optic neuropathy (Other) |
| R420.1 |
Pseudoxanthoma elasticum (Small Panel) |
| R421.1 |
Pulmonary Fibrosis, Familial (Medium panel) |
| R422.1 |
BAP1 associated tumour predisposition syndrome (Single gene sequencing >=10 amplicons) |
| R423.1 |
NIPD for Retinoblastoma haplotype testing (NIPD) |
| R424.1 |
Subcutaneous panniculitis T-cell lymphoma (Single gene sequencing <=10 amplicons) |
| R426.1 |
Pulmonary alveolar microlithiasis (Single gene sequencing >=10 amplicons) |
| R428.1 |
Patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected) (STR testing) |
| R428.2 |
Patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected) (FISH) |
| R43.1 |
Blepharophimosis ptosis and epicanthus inversus (Single gene sequencing <10 amplicons) |
| R43.2 |
Blepharophimosis ptosis and epicanthus inversus (MLPA or equivalent) |
| R43.3 |
Blepharophimosis ptosis and epicanthus inversus (STR testing) |
| R430.1 |
Inherited prostate cancer (Small panel) |
| R431.1 |
Genome-wide DNA Methylation Profiling to Aid Variant Interpretation (Methylation testing) |
| R433.1 |
Monogenic diabetes, subtype glucokinase NIPT (NIPT) |
| R436.1 |
Hereditary alpha tryptasaemia (Targeted variant testing) |
| R438.1, |
Paediatric pseudo-obstruction syndrome (WES or Medium panel) |
| R440.1 |
Hereditary isolated diabetes insipidus (Small panel) |
| R441.1 |
Unexplained death in infancy and sudden unexplained death in childhood (WGS) |
| R442.1 |
Variant Re-interpretation (Targeted variant testing) |
| R443.1 |
Confirmation test (Targeted variant testing) |
| R444.1 |
NICE approved PARP inhibitor treatment (Small panel) |
| R444.2 |
NICE approved PARP inhibitor treatment (Small panel) |
| R445.1 |
T21, T18 and T13 aneuploidy testing NIPT (previous history) (NIPT) |
| R446.1 |
APOL1 kidney donor testing (Single gene sequencing >=10 amplicons) |
| R447.1 |
Validation of WGS Diagnostic discovery (Targeted variant testing) |
| R448.1 |
Prenatal testing (Targeted variant testing) |
| R449.1 |
Diagnostic testing for Glutaric acidaemia I (Single gene sequencing >=10 amplicons) |
| R45.1 |
Stickler syndrome (Small panel) |
| R450.1 |
Diagnostic testing for Isovaleric acidaemia (Single gene sequencing >=10 amplicons) |
| R451.1 |
Diagnostic testing for MCADD Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing (Single gene sequencing <10 amplicons) |
| R452.1 |
Silver russell syndrome and Temple Syndrome (Methylation testing) |
| R453.1 |
Monogenic short stature (WES or Medium Panel) |
| R454.1 |
Mavacamten for treating symptomatic obstructive hypertrophic cardiomyopathy (Targeted variant testing) |
| R456.1 |
Embryonal tumour of possible germline origin (WES or Medium panel) |
| R456.2 |
Embryonal tumour of possible germline origin (Methylation testing) |
| R457.1 |
Sarcoma of possible germline origin (Small panel) |
| R458.1 |
Young onset or familial dementia (WGS) |
| R459.1 |
Young onset or complex Parkinson disease (WGS) |
| R46.1 |
Congenital fibrosis of the extraocular muscles (Small panel) |
| R460.1 |
Amyotrophic lateral sclerosis / Motor Neurone Disease (WGS) |
| R461.1 |
Cerebral amyloid angiopathy (WGS) |
| R462.1 |
Childhood interstitial lung disease (Medium panel) |
| R463.1 |
Cytogenetic characterisation of a genomic abnormality – Karyotype or Targeted Chromosome Analysis (Karyotype) |
| R464.1 |
Recurrent miscarriage where products of conception are not available for testing parental karyotype (Karyotype) |
| R465.1 |
Familial cytogenetic rearrangement – Karyotype or Targeted Chromosome Analysis (Karyotype) |
| R466.1 |
Unexplained infertility (Karyotype) |
| R467.1 |
Gamete donors (Karyotype) |
| R468.1 |
Possible sex chromosome aneuploidy or structural rearrangement – Karyotype or Targeted Chromosome Analysis (Karyotype) |
| R47.1 |
Angelman syndrome (Methylation testing) |
| R471.1 |
Neurodegenerative Disorders, adult onset Prenatal Exclusion Testing C9orf72 haplotype (Linkage analysis) |
| R471.2 |
Neurodegenerative Disorders, adult onset Prenatal Exclusion Testing SOD1 haplotype (Linkage analysis) |
| R471.3 |
Neurodegenerative Disorders, adult onset Prenatal Exclusion Testing MAPT haplotype (Linkage analysis) |
| R471.4 |
Neurodegenerative Disorders, adult onset Prenatal Exclusion Testing PSEN1 haplotype (Linkage analysis) |
| R48.1 |
Prader-Willi syndrome (Methylation testing) |
| R49.1 |
Beckwith-Wiedemann syndrome (Methylation testing) |
| R49.3 |
Beckwith-Wiedemann syndrome (Single gene sequencing >=10 amplicons) |
| R50.1 |
Isolated hemihypertrophy or macroglossia (Methylation testing) |
| R52.1 |
Short stature SHOX deficiency (MLPA or equivalent) |
| R52.2 |
Short stature SHOX deficiency (Single gene sequencing <10 amplicons) |
| R54.3 |
Hereditary ataxia with onset in adulthood (WGS) |
| R54.4 |
Hereditary ataxia with onset in adulthood (RFC1 STR testing) |
| R55.4 |
Hereditary ataxia with onset in childhood (WGS) |
| R56.3 |
Adult onset dystonia, chorea or related movement disorder (WGS) |
| R57.5 |
Childhood onset dystonia, chorea or related movement disorder (WGS) |
| R60.3 |
Adult onset hereditary spastic paraplegia (WGS) |
| R61.4 |
Childhood onset hereditary spastic paraplegia (WGS) |
| R62.2 |
Adult onset leukodystrophy (WGS) |
| R63.1 |
Possible mitochondrial disorder nuclear genes (WES or Large Panel) |
| R64.1 |
MELAS or MIDD (Targeted variant testing) |
| R65.1 |
Aminoglycoside exposure posing risk to hearing (Targeted variant testing) |
| R66.1 |
Paroxysmal central nervous system disorders (WES or Medium Panel) |
| R67.1 |
Monogenic hearing loss (WES or Large Panel) |
| R68.1 |
Huntington disease (STR testing) |
| R69.5 |
Hypotonic infant (WGS) |
| R70.1 |
Spinal muscular atrophy type 1 diagnostic test (MLPA or equivalent) |
| R71.1 |
Spinal muscular atrophy type 1 rare variant testing (Single gene sequencing >=10 amplicons) |
| R72.1 |
Myotonic dystrophy type 1 (STR testing) |
| R73.1 |
Duchenne or Becker muscular dystrophy (Single gene sequencing >=10 amplicons) |
| R73.2 |
Duchenne or Becker muscular dystrophy (MLPA or equivalent) |
| R74.1 |
Facioscapulohumeral muscular dystrophy (Other) |
| R75.1 |
Oculopharyngeal muscular dystrophy (STR testing) |
| R76.1 |
Skeletal muscle channelopathy (Small panel) |
| R77.1 |
Hereditary neuropathy PMP22 copy number (MLPA or equivalent) |
| R78.4 |
Hereditary neuropathy or pain disorder – NOT PMP22 copy number (WGS) |
| R78.5 |
Hereditary neuropathy or pain disorder – NOT PMP22 copy number (RFC1 STR testing) |
| R79.1 |
Congenital muscular dystrophy (WES or Medium Panel) |
| R80.1 |
Congenital myaesthenic syndrome (WES or Medium Panel) |
| R81.1 |
Congenital myopathy (WES or Medium Panel) |
| R82.1 |
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies (WES or Medium Panel) |
| R83.3 |
Arthrogryposis (WGS) |
| R84.4 |
Cerebellar anomalies (WGS) |
| R85.2 |
Holoprosencephaly (WGS) |
| R86.3 |
Hydrocephalus (WGS) |
| R87.3 |
Cerebral malformation (WGS) |
| R88.3 |
Severe microcephaly (WGS) |
| R89.3 |
Ultra-rare and atypical monogenic disorders (WGS) |
| R90.1 |
Bleeding and platelet disorders (WES or Medium Panel) |
| R91.1 |
Cytopenia NOT Fanconi anaemia (WES or Medium Panel) |
| R91.2 |
Cytopenia NOT Fanconi anaemia (MLPA or equivalent) |
| R92.1 |
Rare anaemia (MLPA or equivalent) |
| R92.2 |
Rare anaemia (Small panel) |
| R92.3 |
Rare anaemia (WES or Medium Panel) |
| R93.1 |
Sickle cell, thalassaemia and other haemoglobinopathies (MLPA or equivalent) |
| R93.2 |
Sickle cell, thalassaemia and other haemoglobinopathies (Small panel) |
| R95.1 |
Iron overload hereditary haemochromatosis testing (Targeted variant testing) |
| R96.1 |
Iron metabolism disorders NOT common HFE variants (Small panel) |
| R97.1 |
Thrombophilia with a likely monogenic cause (WES or Small Panel) |
| R98.2 |
Likely inborn error of metabolism (WGS) |
| R98.3 |
Likely inborn error of metabolism (WES) |
| R99.1 |
Common craniosynostosis syndromes (Small panel) |
| R99.2 |
Common craniosynostosis syndromes (Exon level CNV detection by MLPA or equivalent) |
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