NHS North West Genomics
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NHS North West Genomics - Local Development build (v2.1.4) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

ValueSet: Genomic Cancer Test Directory

Official URL: https://fhir.nwgenomics.nhs.uk/ValueSet/GenomicCancer Version: 2.1.4
Draft as of 2026-07-24 Computable Name: GenomicCancer

References

Logical Definition (CLD)

  • Include these codes as defined in https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory version 📦2.1.4
    CodeDisplay
    M120.1Atypical Teratoid/Rhabdoid Tumour, Paediatric, Multi-target NGS panel, small variant (SMARCA4, SMARCB1)
    M120.2Atypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCA4 seq
    M120.3Atypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCB1 seq
    M120.4Atypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCA4 copy number FISH
    M120.5Atypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCB1 copy number FISH
    M120.6Atypical Teratoid/Rhabdoid Tumour, Paediatric, Multi-target NGS panel, structural variant
    M120.7Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-KIAA1549 FISH/RT-PCR
    M120.8Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-FXR1 FISH/RT-PCR
    M120.9Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-AGK FISH/RT-PCR
    M120.10Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-AKAP9 FISH/RT-PCR
    M120.11Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-CCDC6 FISH/RT-PCR
    M120.12Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-FAM118B FISH/RT-PCR
    M120.13Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-GNAI1 FISH/RT-PCR
    M120.14Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-MACF1 FISH/RT-PCR
    M120.15Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF rearrangement FISH
    M120.16Atypical Teratoid/Rhabdoid Tumour, Paediatric, WGS Germline and Tumour

 

Expansion

Expansion performed internally based on codesystem NHS England Genomic Test Code v2.1.4 (CodeSystem)

This value set contains 16 concepts

SystemCodeDisplay (en)JSONXML
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.1Atypical Teratoid/Rhabdoid Tumour, Paediatric, Multi-target NGS panel, small variant (SMARCA4, SMARCB1)
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.2Atypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCA4 seq
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.3Atypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCB1 seq
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.4Atypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCA4 copy number FISH
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.5Atypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCB1 copy number FISH
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.6Atypical Teratoid/Rhabdoid Tumour, Paediatric, Multi-target NGS panel, structural variant
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.7Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-KIAA1549 FISH/RT-PCR
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.8Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-FXR1 FISH/RT-PCR
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.9Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-AGK FISH/RT-PCR
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.10Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-AKAP9 FISH/RT-PCR
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.11Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-CCDC6 FISH/RT-PCR
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.12Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-FAM118B FISH/RT-PCR
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.13Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-GNAI1 FISH/RT-PCR
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.14Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-MACF1 FISH/RT-PCR
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.15Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF rearrangement FISH
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.16Atypical Teratoid/Rhabdoid Tumour, Paediatric, WGS Germline and Tumour

Description of the above table(s).