| Code | Display |
| R14 |
Acutely unwell children with a likely monogenic disorder |
| R15 |
Primary immunodeficiency or monogenic inflammatory bowel disease |
| R16 |
Severe combined immunodeficiency with adenosine deaminase deficiency |
| R17 |
Lymphoproliferative syndrome with absent SAP expression |
| R18 |
Haemophagocytic syndrome with absent XIAP expression |
| R19 |
Autoimmune lymphoproliferative syndrome with defective apoptosis |
| R20 |
Wiskott-Aldrich syndrome |
| R21 |
Fetal anomalies with a likely genetic cause |
| R22 |
Fetus with a likely chromosomal abnormality |
| R23 |
Apert syndrome |
| R24 |
Achondroplasia |
| R25 |
Thanatophoric dysplasia |
| R26 |
Likely common aneuploidy |
| R27 |
Paediatric disorders |
| R28 |
Congenital malformation and dysmorphism syndromes |
| R31 |
Bilateral congenital or childhood onset cataracts |
| R32 |
Retinal disorders |
| R33 |
Possible X-linked retinitis pigmentosa |
| R36 |
Structural eye disease |
| R38 |
Sporadic aniridia |
| R39 |
Albinism or congenital nystagmus |
| R41 |
Optic neuropathy |
| R42 |
Leber hereditary optic neuropathy |
| R43 |
Blepharophimosis ptosis and epicanthus inversus |
| R45 |
Stickler syndrome |
| R46 |
Congenital fibrosis of the extraocular muscles |
| R47 |
Angelman syndrome |
| R48 |
Prader-Willi syndrome |
| R49 |
Beckwith-Wiedemann syndrome |
| R50 |
Isolated hemihypertrophy or macroglossia |
| R52 |
Short stature - SHOX deficiency |
| R54 |
Hereditary ataxia with onset in adulthood |
| R55 |
Hereditary ataxia with onset in childhood |
| R56 |
Adult onset dystonia, chorea or related movement disorder |
| R57 |
Childhood onset dystonia, chorea or related movement disorder |
| R60 |
Adult onset hereditary spastic paraplegia |
| R61 |
Childhood onset hereditary spastic paraplegia |
| R62 |
Adult onset leukodystrophy |
| R63 |
Possible mitochondrial disorder - nuclear genes |
| R64 |
MELAS or MIDD |
| R65 |
Aminoglycoside exposure posing risk to hearing |
| R66 |
Paroxysmal central nervous system disorders |
| R67 |
Monogenic hearing loss |
| R68 |
Huntington disease |
| R69 |
Hypotonic infant |
| R70 |
Spinal muscular atrophy type 1 diagnostic test |
| R71 |
Spinal muscular atrophy type 1 rare variant testing |
| R72 |
Myotonic dystrophy type 1 |
| R73 |
Duchenne or Becker muscular dystrophy |
| R74 |
Facioscapulohumeral muscular dystrophy |
| R75 |
Oculopharyngeal muscular dystrophy |
| R76 |
Skeletal muscle channelopathy |
| R77 |
Hereditary neuropathy - PMP22 copy number |
| R78 |
Hereditary neuropathy or pain disorder |
| R79 |
Congenital muscular dystrophy |
| R80 |
Congenital myaesthenic syndrome |
| R81 |
Congenital myopathy |
| R82 |
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies |
| R83 |
Arthrogryposis |
| R84 |
Cerebellar anomalies |
| R85 |
Holoprosencephaly - NOT chromosomal |
| R86 |
Hydrocephalus |
| R87 |
Cerebral malformation |
| R88 |
Severe microcephaly |
| R89 |
Ultra-rare and atypical monogenic disorders |
| R90 |
Bleeding and platelet disorders |
| R91 |
Cytopenia - NOT Fanconi anaemia |
| R92 |
Rare anaemia |
| R93 |
Sickle cell, thalassaemia and other haemoglobinopathies |
| R95 |
Iron overload - hereditary haemochromatosis testing |
| R96 |
Iron metabolism disorders - NOT common HFE variants |
| R97 |
Thrombophilia with a likely monogenic cause |
| R98 |
Likely inborn error of metabolism |
| R99 |
Common craniosynostosis syndromes |
| R100 |
Rare syndromic craniosynostosis or isolated multisuture synostosis |
| R101 |
Ehlers Danlos syndrome with a likely monogenic cause |
| R102 |
Osteogenesis imperfecta |
| R104 |
Skeletal dysplasia |
| R105 |
MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – common variant newborn screening follow up |
| R106 |
Alstrom syndrome |
| R107 |
Bardet Biedl syndrome |
| R109 |
Childhood onset leukodystrophy |
| R110 |
Segmental overgrowth disorders - Deep sequencing |
| R111 |
X-inactivation testing |
| R112 |
Factor II deficiency |
| R115 |
Factor V deficiency |
| R116 |
Factor VII deficiency |
| R117 |
Factor VIII deficiency |
| R118 |
Factor IX deficiency |
| R119 |
Factor X deficiency |
| R120 |
Factor XI deficiency |
| R121 |
von Willebrand disease |
| R122 |
Factor XIII deficiency |
| R123 |
Combined vitamin K-dependent clotting factor deficiency |
| R124 |
Combined factor V and VIII deficiency |
| R125 |
Thoracic aortic aneurysm or dissection |
| R127 |
Long QT syndrome |
| R128 |
Brugada syndrome and cardiac sodium channel disease |
| R129 |
Catecholaminergic polymorphic VT |
| R130 |
Short QT syndrome |
| R131 |
Hypertrophic cardiomyopathy |
| R132 |
Dilated and Arrhythmogenic cardiomyopathy |
| R133 |
Arrhythmogenic right ventricular cardiomyopathy |
| R134 |
Familial hypercholesterolaemia |
| R135 |
Paediatric or syndromic cardiomyopathy |
| R136 |
Primary lymphoedema |
| R137 |
Congenital heart disease - microarray |
| R138 |
Sudden unexplained death or survivors of a cardiac event |
| R139 |
Laterality disorders and isomerism |
| R140 |
Elastin-related phenotypes |
| R141 |
Monogenic diabetes |
| R142 |
Glucokinase-related fasting hyperglycaemia |
| R143 |
Neonatal diabetes |
| R144 |
Congenital hyperinsulinism |
| R145 |
Congenital hypothyroidism |
| R146 |
Differences in sex development |
| R148 |
Hypogonadotropic hypogonadism |
| R149 |
Severe early-onset obesity |
| R150 |
Congenital adrenal hypoplasia |
| R151 |
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia |
| R153 |
Familial hypoparathyroidism |
| R154 |
Hypophosphataemia or rickets |
| R155 |
Autoimmune Polyendocrine Syndrome |
| R156 |
Carney complex |
| R157 |
IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked |
| R158 |
Severe insulin resistance and lipodystrophy syndromes |
| R159 |
Pituitary hormone deficiency |
| R160 |
Primary pigmented nodular adrenocortical disease |
| R162 |
Familial tumoral calcinosis |
| R163 |
Ectodermal dysplasia |
| R164 |
Epidermolysis bullosa and congenital skin fragility |
| R165 |
Ichthyosis and erythrokeratoderma |
| R166 |
Palmoplantar keratodermas |
| R167 |
Autosomal recessive primary hypertrophic osteoarthropathy |
| R168 |
Non-acute porphyrias |
| R169 |
Acute intermittent porphyria |
| R170 |
Variegate porphyria |
| R171 |
Cholestasis |
| R172 |
Wilson disease |
| R173 |
Polycystic liver disease |
| R175 |
Pancreatitis |
| R176 |
Gilbert syndrome |
| R180 |
Congenital adrenal hyperplasia diagnostic test |
| R181 |
Congenital adrenal hyperplasia carrier testing |
| R182 |
Hyperthyroidism |
| R183 |
Glucocorticoid-remediable aldosteronism (GRA) |
| R184 |
Cystic fibrosis diagnostic test |
| R185 |
Cystic fibrosis carrier testing |
| R186 |
Hereditary haemorrhagic telangiectasia |
| R188 |
Pulmonary arterial hypertension |
| R189 |
Respiratory ciliopathies including non-CF bronchiectasis |
| R190 |
Pneumothorax - familial |
| R191 |
Alpha-1-antitrypsin deficiency |
| R193 |
Cystic renal disease |
| R194 |
Haematuria |
| R195 |
Proteinuric renal disease |
| R196 |
CFHR5 nephropathy |
| R197 |
Membranoproliferative glomerulonephritis including C3 glomerulopathy |
| R198 |
Renal tubulopathies |
| R199 |
Congenital anomalies of the kidney and urinary tract - familial |
| R201 |
Atypical haemolytic uraemic syndrome |
| R202 |
Tubulointerstitial kidney disease |
| R204 |
Hereditary Systemic Amyloidosis |
| R207 |
Inherited ovarian cancer (without breast cancer) |
| R208 |
Inherited breast cancer and ovarian cancer |
| R210 |
Inherited MMR deficiency (Lynch syndrome) |
| R211 |
Inherited polyposis and early onset colorectal cancer - germline testing |
| R212 |
Peutz Jeghers Syndrome |
| R213 |
PTEN Hamartoma Tumor Syndrome |
| R214 |
Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome |
| R215 |
Hereditary diffuse gastric cancer |
| R216 |
Li Fraumeni Syndrome |
| R217 |
Endocrine neoplasia |
| R218 |
Multiple endocrine neoplasia type 2 |
| R219 |
Retinoblastoma |
| R221 |
Familial tumours of the nervous system |
| R222 |
Neurofibromatosis type 1 |
| R223 |
Inherited phaeochromocytoma and paraganglioma excluding NF1 |
| R224 |
Inherited renal cancer |
| R225 |
Von Hippel Lindau syndrome |
| R226 |
Inherited parathyroid cancer |
| R227 |
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome |
| R228 |
Tuberous sclerosis |
| R229 |
Confirmed Fanconi anaemia or Bloom syndrome - variant testing |
| R230 |
Multiple monogenic benign skin tumours |
| R231 |
Neuronal ceroid lipofuscinosis |
| R232 |
Haemophagocytic syndrome with absent perforin expression |
| R233 |
Agammaglobulinaemia with absent BTK expression |
| R234 |
Severe combined immunodeficiency with PNP deficiency |
| R235 |
SCID with features of gamma chain deficiency |
| R236 |
Pigmentary skin disorders |
| R237 |
Cutaneous photosensitivity with a likely genetic cause |
| R239 |
Incontinentia pigmenti |
| R240 |
Diagnostic testing for known variant(s) |
| R242 |
Predictive testing for known familial variant(s) |
| R244 |
Carrier testing for known familial variant(s) |
| R246 |
Carrier testing at population risk for partners of known carriers of nationally agreed autosomal recessive disorders |
| R249 |
NIPD using paternal exclusion testing for very rare conditions where familial variant is known |
| R250 |
NIPD for congenital adrenal hyperplasia - CYP21A2 haplotype testing |
| R251 |
Non-invasive prenatal sexing |
| R252 |
SMA carrier testing at population risk for partners of known carriers |
| R253 |
Cystic fibrosis newborn screening follow-up |
| R254 |
Familial melanoma |
| R255 |
Epidermodysplasia verruciformis |
| R256 |
Nephrocalcinosis or nephrolithiasis |
| R257 |
Unexplained young onset end-stage renal disease |
| R258 |
Cytopenia - Fanconi breakage testing indicated |
| R259 |
Nijmegen breakage syndrome |
| R260 |
Fanconi anaemia or Bloom syndrome - chromosome breakage testing |
| R262 |
Corneal dystrophy |
| R263 |
Confirmation of uniparental disomy |
| R264 |
Identity testing |
| R265 |
Chromosomal mosaicism - karyotype |
| R268 |
Kagami-Ogata syndrome - paternal uniparental disomy 14 |
| R270 |
Smith-Lemli-Opitz syndrome |
| R271 |
Neuronal ceroid lipofuscinosis type 2 |
| R272 |
Gaucher disease |
| R273 |
Glycogen storage disease V |
| R274 |
Glycogen storage disease |
| R275 |
Glutaric acidaemia I newborn screening follow up |
| R276 |
Lysosomal storage disorder |
| R277 |
Mucopolysaccharidosis type IH/S |
| R278 |
Mucopolysaccharidosis type II |
| R279 |
Isovaleric acidaemia newborn screening follow up |
| R280 |
Krabbe disease – GALC deficiency |
| R281 |
Krabbe disease - Saposin A deficiency |
| R282 |
Niemann-Pick disease type A or B |
| R283 |
Phenylketonuria |
| R285 |
Sandhoff disease |
| R286 |
Tay-Sachs disease |
| R287 |
Mucopolysaccharidosis type IVA |
| R288 |
GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB |
| R289 |
Mucolipidosis II and III Alpha/Beta |
| R290 |
Mucopolysaccharidosis type VI |
| R291 |
Mucopolysaccharidosis type IIIA |
| R292 |
Mucopolysaccharidosis type IIIB |
| R293 |
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis |
| R294 |
Ataxia telangiectasia - DNA repair testing |
| R295 |
Ataxia telangiectasia - variant testing |
| R296 |
RNA analysis of variants |
| R298 |
Possible structural or mosaic chromosomal abnormality - FISH |
| R299 |
Possible mitochondrial disorder - mitochondrial DNA rearrangement testing |
| R300 |
Possible mitochondrial disorder - whole mitochondrial genome sequencing |
| R301 |
Possible mitochondrial disorder - mitochondrial DNA depletion testing |
| R304 |
NIPD for cystic fibrosis - haplotype testing |
| R305 |
NIPD for cystic fibrosis - variant testing |
| R306 |
NIPD for Apert syndrome - variant testing |
| R307 |
NIPD for Crouzon syndrome with acanthosis nigricans - variant testing |
| R308 |
NIPD for FGFR2-related craniosynostosis syndromes - variant testing |
| R309 |
NIPD for FGFR3-related skeletal dysplasias - variant testing |
| R310 |
NIPD for Duchenne and Becker muscular dystrophy - haplotype testing |
| R311 |
NIPD for spinal muscular atrophy - variant testing |
| R312 |
Parental sequencing for lethal autosomal recessive disorders |
| R313 |
Neutropaenia consistent with ELANE variants |
| R314 |
Ambiguous genitalia |
| R315 |
POLG-related disorder |
| R316 |
Pyruvate dehydrogenase (PDH) deficiency |
| R317 |
Mitochondrial liver disease, including transient infantile liver failure |
| R318 |
Recurrent miscarriage with products of conception available for testing |
| R319 |
Calcium-sensing receptor phenotypes |
| R320 |
Invasive prenatal diagnosis requiring fetal sexing |
| R321 |
Maternal cell contamination testing |
| R322 |
Skin fibroblasts to be cultured and stored |
| R323 |
Sitosterolaemia |
| R324 |
Familial Chylomicronaemia Syndrome (FCS) |
| R325 |
Lysosomal acid lipase deficiency |
| R326 |
Vascular skin disorders |
| R327 |
Mosaic skin disorders - deep sequencing |
| R328 |
Progressive cardiac conduction disease |
| R329 |
Familial dysalbuminaemic hyperthyroxinaemia |
| R330 |
Alveolar capillary dysplasia with misalignment of pulmonary veins |
| R331 |
Intestinal failure or congenital diarrhoea |
| R332 |
Rare genetic inflammatory skin disorders |
| R333 |
Central congenital hypoventilation |
| R334 |
Cystinosis |
| R335 |
Fabry disease |
| R336 |
Cerebral vascular malformations |
| R337 |
CADASIL |
| R338 |
Monitoring for G(M)CSF escape variants |
| R340 |
Amelogenesis imperfecta |
| R341 |
Hereditary angioedema types I and II |
| R343 |
Chromosomal mosaicism - microarray |
| R344 |
Primary hyperaldosteronism - KCNJ5 |
| R345 |
Facioscapulohumeral muscular dystrophy - extended testing |
| R346 |
DNA to be stored |
| R347 |
Inherited predisposition to acute myeloid leukaemia (AML) |
| R350 |
MERRF syndrome |
| R351 |
NARP syndrome or maternally inherited Leigh syndrome |
| R352 |
Mitochondrial DNA maintenance disorder |
| R353 |
Mitochondrial disorder with complex I deficiency |
| R354 |
Mitochondrial disorder with complex II deficiency |
| R355 |
Mitochondrial disorder with complex III deficiency |
| R356 |
Mitochondrial disorder with complex IV deficiency |
| R357 |
Mitochondrial disorder with complex V deficiency |
| R361 |
Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing |
| R363 |
Inherited predisposition to GIST |
| R364 |
DICER1-related cancer predisposition |
| R365 |
Fumarate hydratase-related tumour syndromes |
| R366 |
Inherited susceptibility to acute lymphoblastoid leukaemia (ALL) |
| R367 |
Inherited pancreatic cancer |
| R368 |
Hereditary angioedema type III |
| R370 |
Validation of unaccredited findings |
| R371 |
Malignant hyperthermia |
| R372 |
Newborn screening for sickle cell disease in a transfused baby |
| R373 |
RNA to be stored |
| R374 |
Other sample to be stored |
| R375 |
Family follow-up testing to aid variant interpretation |
| R376 |
Segmental or atypical neurofibromatosis type 1 testing |
| R380 |
Niemann Pick disease type C |
| R381 |
Other rare neuromuscular disorders |
| R382 |
Hypochondroplasia |
| R383 |
Linkage testing for Huntington disease |
| R384 |
Generalised arterial calcification in infancy |
| R387 |
Reanalysis of existing data |
| R389 |
NIPD - pre-pregnancy test work-up |
| R390 |
Multiple exostoses |
| R391 |
Barth syndrome |
| R394 |
Mitochondrial neurogastrointestinal encephalopathy |
| R395 |
Thiamine metabolism dysfunction syndrome 2 |
| R396 |
Mitochondrial Complex V deficiency, TMEM70 type |
| R397 |
Maternally inherited cardiomyopathy |
| R401 |
Common aneuploidy testing - prenatal |
| R402 |
Premature ovarian insufficiency |
| R403 |
MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up |
| R404 |
Testing of unaffected individuals for inherited cancer predisposition syndromes |
| R405 |
Hereditary Erythrocytosis |
| R406 |
Thrombocythaemia |
| R409 |
Linkage testing for other recognisable Mendelian disorders |
| R410 |
Myotonic dystrophy type 2 (DM2) |
| R411 |
Y chromosome microdeletion |
| R412 |
Fetal anomalies with a likely genetic cause - non urgent |
| R413 |
Autoinflammatory Disorders |
| R414 |
APC associated Polyposis |
| R416 |
Syndromic and non syndromic craniosynostosis involving midline sutures |
| R417 |
Multi Locus Imprinting Disorder (MLID) |
| R419 |
Acute Rhabdomyolysis |
| R420 |
Pseudoxanthoma elasticum |
| R421 |
Pulmonary Fibrosis, Familial |
| R422 |
BAP1 associated tumour predisposition syndrome |
| R423 |
NIPD for Retinoblastoma - haplotype testing |
| R424 |
Subcutaneous panniculitis T-cell lymphoma (SPTCL) |
| R426 |
Pulmonary alveolar microlithiasis |
| R428 |
Patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected) |
| R430 |
Inherited prostate cancer |
| R431 |
Genome-wide DNA Methylation Profiling to Aid Variant Interpretation |
| R433 |
Monogenic diabetes, subtype glucokinase - NIPT |
| R436 |
Hereditary alpha tryptasaemia |
| R438 |
Paediatric pseudo-obstruction syndrome |
| R440 |
Hereditary isolated diabetes insipidus |
| R441 |
Unexplained death in infancy and sudden unexplained death in childhood |
| R442 |
Variant re-interpretation |
| R443 |
Confirmation test |
| R444 |
NICE approved PARP inhibitor treatment |
| R445 |
T21, T18 and T13 aneuploidy testing - NIPT (previous history) |
| R446 |
APOL1 kidney donor testing |
| R447 |
Validation of WGS Diagnostic discovery |
| R448 |
Prenatal testing |
| R449 |
Diagnostic testing for Glutaric acidaemia I |
| R450 |
Diagnostic testing for Isovaleric acidaemia |
| R451 |
Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing |
| R452 |
Silver russell syndrome and Temple Syndrome |
| R453 |
Monogenic short stature |
| R454 |
Mavacamten for treating symptomatic obstructive hypertrophic cardiomyopathy |
| R456 |
Embryonal tumour of possible germline origin |
| R457 |
Sarcoma of possible germline origin |
| R458 |
Young onset or familial dementia |
| R459 |
Young onset or complex Parkinson disease |
| R460 |
Amyotrophic lateral sclerosis |
| R461 |
Cerebral amyloid angiopathy |
| R462 |
Childhood interstitial lung disease |
| R463 |
Cytogenetic characterisation of a genomic abnormality – Karyotype or Targeted Chromosome Analysis |
| R464 |
Recurrent miscarriage where products of conception are not available for testing - parental karyotype |
| R465 |
Familial cytogenetic rearrangement - Karyotype or Targeted Chromosome Analysis |
| R466 |
Unexplained infertility - karyotype |
| R467 |
Gamete donors - karyotype |
| R468 |
Possible sex chromosome aneuploidy or structural rearrangement – Targeted Chromosome Analysis |
| R470 |
T21, T18, and T13 aneuploidy testing - NIPT NHS Fetal Anomaly Screening Programme (FASP) |
| R471 |
Neurodegenerative Disorders, adult onset – Prenatal Exclusion Testing |
| M1 |
Colorectal Carcinoma |
| M2 |
Ovarian Carcinoma |
| M3 |
Breast Cancer |
| M4 |
Non-Small Cell Lung Cancer |
| M5 |
Mesothelioma |
| M6 |
Mucoepidermoid Carcinoma |
| M7 |
Melanoma - Adult |
| M8 |
Gastrointestinal Stromal Tumour |
| M9 |
Thyroid Papillary Carcinoma - Adult |
| M10 |
Thyroid Follicular Carcinoma |
| M11 |
Poorly Differentiated Anaplastic Thyroid Carcinoma |
| M12 |
Thyroid Medullary Carcinoma |
| M13 |
Phaeochromocytoma |
| M14 |
Adrenal Cortical Carcinoma |
| M15 |
Head and Neck Squamous Cell Carcinoma |
| M16 |
Adenoid Cystic Carcinoma |
| M17 |
Secretory Carcinoma (Salivary Gland) |
| M18 |
Renal Cell Carcinoma - Adult |
| M42 |
Alveolar Rhabdomyosarcoma |
| M43 |
Alveolar Soft Part Sarcoma |
| M44 |
Aneurysmal Bone Cyst |
| M45 |
Angiomatoid Fibrous Histiocytoma |
| M46 |
Chondrosarcoma Conventional Central |
| M47 |
Chondroblastoma |
| M48 |
Clear Cell Sarcoma of Soft Tissue |
| M49 |
CNS Ewing Sarcoma Family Tumour With CIC Alteration |
| M50 |
Dermatofibrosarcoma Protuberans |
| M51 |
Desmoid-Type Fibromatosis |
| M52 |
Desmoplastic Small Round Cell Tumour |
| M53 |
Endometrial Stromal Sarcoma |
| M54 |
Epithelioid Haemangioendothelioma |
| M55 |
Ewing Like Sarcoma/PNET |
| M56 |
Ewing Sarcoma of Bone |
| M57 |
Ewing-Like Soft-Tissue Sarcoma |
| M58 |
Extraskeletal Myxoid Chondrosarcoma |
| M59 |
Fibrous Dysplasia/Myxomas (Mazabraud Syndrome) |
| M60 |
Giant Cell Tumour of Bone |
| M61 |
High-Grade Neuroepithelial Tumour-Bcor Group |
| M62 |
Infantile Fibrosarcoma |
| M63 |
Inflammatory Myofibroblastic Tumour |
| M64 |
Low Grade Fibromyxoid Sarcoma |
| M65 |
Mesenchymal Chondrosarcoma |
| M66 |
Myoepithelial Tumours of Soft Tissue |
| M67 |
Myxoid/Round Cell Liposarcoma |
| M68 |
Myxoinflammatory Fibroblastic Sarcoma |
| M69 |
Nodular Fasciitis |
| M70 |
Osteosarcoma |
| M71 |
Phosphaturic Mesenchymal Tumour |
| M72 |
Primitive Mesenchymal Myxoid Tumour of Infancy |
| M73 |
Pseudomyogenic Haemangioendothelioma |
| M74 |
Radiation Induced Angiosarcoma |
| M75 |
Round Cell Sarcoma Nos |
| M76 |
Sclerosing Epithelioid Fibrosarcoma |
| M77 |
Synovial Sarcoma |
| M78 |
Undifferentiated Round Cell Sarcoma of Infancy |
| M79 |
Well Differentiated/Dedifferentiated Liposarcoma |
| M119 |
Paediatric Tumours |
| M124 |
Clear Cell Kidney Sarcoma - Paediatric |
| M127 |
Congenital Mesoblastic Nephroma - Paediatric |
| M131 |
Cystic Nephroma - Paediatric |
| M143 |
Lung - Paediatric |
| M149 |
Melanotic Tumours - Paediatric |
| M151 |
Midline Carcinoma - Paediatric |
| M152 |
Neuroblastoma - Paediatric |
| M157 |
Thyroid Papillary Carcinoma - Paediatric |
| M161 |
Pleuropulmonary Blastoma - Paediatric |
| M165 |
Renal Tumours - Paediatric |
| M166 |
Retinoblastoma - Paediatric |
| M167 |
Rhabdoid Tumours - Paediatric |
| M173 |
t(6;11) Translocation-Associated Renal Cell Carcinoma - Paediatric |
| M174 |
Testicular - Paediatric |
| M178 |
Wilms Tumours - Paediatric |
| M180 |
Xp11.2 Translocation-Associated Renal Cell Carcinoma - Paediatric |
| M187 |
Uveal melanoma |
| M196 |
Bone Forming Soft Tissue Tumour Differential |
| M197 |
Round Cell Sarcoma of Soft Tissue Differential |
| M198 |
Vascular Soft Tissue Tumour Differential |
| M199 |
Spindle Cell Soft Tissue Tumour Differential |
| M200 |
Myxoid Soft Tissue Tumour Differential |
| M201 |
Adipocytic Soft Tissue Tumour Differential |
| M202 |
Epithelioid Soft Tissue Tumour Differential |
| M203 |
Uterine Sarcomas (Inc Endometrial) |
| M204 |
Undifferentiated tumour |
| M205 |
Cartilage Forming Bone Tumour Differential |
| M206 |
Bone Forming Bone Tumour Differential |
| M207 |
Osteoclast-Rich Bone Tumour Differential |
| M208 |
Round Cell Sarcoma of Bone Differential |
| M209 |
Vascular Tumour of Bone Differential |
| M210 |
Spindle Cell Tumour of Bone Differential |
| M211 |
Fibro-Osseous Tumour of Bone Differential |
| M212 |
Renal Tumour Differential - Paediatric |
| M215 |
Endometrial Cancer |
| M217 |
Urothelial Carcinoma |
| M218 |
Prostate Cancer |
| M219 |
Pancreatic Cancer |
| M220 |
Cholangiocarcinoma |
| M221 |
Spitzoid tumour |
| M222 |
Hepatocellular carcinoma |
| M226 |
Carcinoma of Unknown Primary |
| M227 |
Solid tumour other (i.e. specific histology not listed elsewhere in the test directory) |
| M231 |
Small cell lung cancer |
| M232 |
Solid Tumour Exhausted all Standards of Care Testing and Treatment- Adult |
| M233 |
High Grade Ovarian Carcinoma |
| M234 |
Triple Negative Breast Cancer |
| M236 |
Oesophageal Cancer |
| M237 |
Gastric Cancer |
| M238 |
Small Bowel Cancer |
| M239 |
Thyroid Hurtle Cell Carcinoma |
| M240 |
Non-invasive follicular thyroid neoplasm with papillary like nuclei |
| M241 |
Conjunctival melanoma |
| M242 |
Any patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected) |
| M243 |
Thymic Carcinoma |
| M244 |
In all tumours eligible for NTRK1/2/3 testing |
| M245 |
Ovarian sex cord stromal tumours |
| M20 |
Anaplastic Astrocytoma |
| M21 |
Astrocytoma |
| M22 |
Diffuse Astrocytoma |
| M23 |
Diffuse Midline Glioma |
| M24 |
Embryonal Tumours with Multi-Layered Rosettes |
| M25 |
Ependymoma |
| M26 |
Ependymoma |
| M27 |
Glioblastoma |
| M28 |
Glioma |
| M29 |
High Grade Glioma |
| M30 |
IDH-Wildtype Glioblastoma |
| M31 |
Low Grade Glioma |
| M32 |
Low Grade Glioma/Glioneuronal Tumours |
| M33 |
Meningioma |
| M34 |
Non-Midline Glioma |
| M35 |
OligodendroGlioma |
| M36 |
Pilocytic Astrocytoma |
| M37 |
Pineoblastoma |
| M38 |
Pituitary Tumours |
| M39 |
Rare Primitive Neuroectodermal Tumours Groups 2/3 |
| M80 |
Acute Myeloid Leukaemia |
| M81 |
Transient Abnormal Myelopoiesis |
| M82 |
Myelodysplasia |
| M83 |
Aplastic Anaemia |
| M84 |
Chronic Myeloid Leukaemia |
| M85 |
Myeloproliferative Neoplasm |
| M86 |
Systemic Mastocytosis |
| M87 |
Chronic Neutrophilic Leukaemia |
| M88 |
Juvenile Myelomonocytic Leukaemia |
| M89 |
Acute Leukaemia Other |
| M90 |
Blastic Plasmacytoid Dendritic Cell Neoplasm |
| M91 |
Acute Lymphoblastic Leukaemia |
| M92 |
Plasma Cell Dyscrasia |
| M93 |
Lymphoma |
| M94 |
Chronic Lymphocytic Leukaemia |
| M95 |
B cell Non-Hodgkin Lymphoma |
| M96 |
Burkitt Lymphoma |
| M97 |
Burkitt Like Lymphoma with 11q Abnormalities |
| M98 |
Large B Cell Like Lymphoma with IRF4 Rearrangement |
| M99 |
High Grade Lymphoma |
| M100 |
Primary Mediastinal B Cell Lymphoma |
| M101 |
ALK Positive Large B Cell Lymphoma |
| M102 |
Mantle Cell Lymphoma |
| M103 |
Follicular Lymphoma |
| M104 |
Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinaemia |
| M105 |
Igm Monoclonal Gammopathy of Uncertain Significance |
| M106 |
Intra-Ocular Lymphoma |
| M107 |
Malt-Lymphoma |
| M108 |
Hairy Cell Leukaemia |
| M109 |
Hairy Cell Leukaemia |
| M110 |
Paediatric Type Follicular Lymphoma |
| M111 |
T Cell Non-Hodgkin Lymphoma |
| M112 |
ALK Negative Anaplastic Large Cell Lymphoma (Including Primary Cutaneous Subtypes) |
| M113 |
T Prolymphocytic Leukaemia |
| M114 |
Large Granular Lymphocyte Leukaemia |
| M115 |
NK Cell/Gamma-Delta T Cell Lymphoma |
| M116 |
Hepatosplenic T Cell Lymphoma |
| M117 |
Histiocytosis |
| M118 |
Any patient undergoing Allogeneic Haematopoietic Stem Cell transplantation |
| M120 |
Atypical Teratoid/Rhabdoid Tumour |
| M126 |
CNS High-Grade Neuroepithelial Tumour with MN1 Alteration |
| M130 |
Cribriform Neuroepithelial Tumour |
| M132 |
Desmoplastic Infantile Gangliogliomas |
| M133 |
Desmoplastic Medulloblastoma |
| M136 |
Fibrolamellar Hepatocellular Carcinoma |
| M137 |
Ganglioglioma |
| M138 |
Glial Tumours |
| M139 |
Glioblastoma |
| M145 |
Medulloblastoma |
| M146 |
Medulloblastoma Group 3 |
| M147 |
Medulloblastoma Group 3/4 |
| M148 |
Medulloblastoma TP53 WT |
| M150 |
Meningioma |
| M153 |
Nodular Brain Tumour |
| M155 |
Oligoastrocytoma |
| M156 |
Oligodendroglioma |
| M158 |
Pilocytic Astrocytoma |
| M159 |
Pituitary Blastoma |
| M160 |
Pleomorphic Xanthoastrocytoma |
| M162 |
Primitive Neuroectodermal Tumours |
| M168 |
Rosette-Forming Glioneuronal Tumour |
| M169 |
Secondary Glioblastoma |
| M170 |
SHH Medulloblastoma |
| M171 |
SHH Medulloblastoma |
| M172 |
SHH Medulloblastoma |
| M179 |
WNT Medulloblastoma |
| M181 |
Hairy Cell Leukaemia |
| M182 |
ALK Positive Anaplastic Large Cell Lymphoma |
| M183 |
Diffuse Midline Glioma |
| M184 |
Glioma |
| M185 |
High Grade Glioma |
| M186 |
Low Grade Glioma |
| M189 |
Brain Tumour |
| M190 |
Embryonal Tumour Differential |
| M191 |
Low Grade Intrinsic Brain Tumour Differential |
| M192 |
High Grade Intrinsic Brain Tumour Differential |
| M193 |
Unable To Grade Intrinsic Brain Tumour |
| M194 |
Medulloblastoma all Subtypes |
| M195 |
Craniopharyngioma |
| M213 |
Glial and Glioneuronal Tumour Differential |
| M224 |
MDS/MPN |
| M225 |
Suspected Lymphoma |
| M235 |
Proven or Suspected Haematological Tumours Exhausted all Standard of Care Testing and Treatment |
| R94 |
Not present in 8.0 |
| R362 |
Not present in 8.0 |
