NHS North West Genomics
0.0.7 - ci-build United Kingdom flag

NHS North West Genomics - Local Development build (v0.0.7) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

CodeSystem: NHS England Genomic Test Outcome Code

Official URL: https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode Version: 0.0.7
Draft as of 2025-05-08 Computable Name: GenomicTestOutcomeCode

Test Outcome Code from NHS England Genomics Test Reporting Specification

This Code system is referenced in the content logical definition of the following value sets:

This case-sensitive code system https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode defines the following codes:

CodeDisplay
311 RESULT CONSISTENT WITH REFERRAL INDICATION
312 RESULT PARTIALLY CAUSATIVE OF REFERRAL INDICATION
313 GENETIC CAUSE WAS NOT FOUND
314 RESULT OF UNCERTAIN SIGNIFICANCE
321 VARIANT DETECTED
322 VARIANT NOT DETECTED
323 FAMILY MEMBER TESTED TO AID INTERPRETATION OF PROBAND’S TEST; NOT INDEPENDENTLY ANALYSED
331 VARIANT(S) DETECTED
332 VARIANT(S) NOT DETECTED
411 ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED CONTRIBUTING TO THE SUSPECTED DIAGNOSIS
412 ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED WHICH CONTRIBUTES TO AN ALTERNATIVE DIAGNOSIS
413 NO ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED WHICH REDUCES LIKELIHOOD BUT DOES NOT EXCLUDE (DIFFERENTIAL) DIAGNOSIS/DIAGNOSES
421 VARIANT DETECTED – WHERE A TARGETED TREATMENT IS AVAILABLE OR WHERE PROGNOSTIC/ACTIONABLE INFORMATION IS PROVIDED
422 WILDTYPE RESULT OBTAINED – WHERE THE ABSENCE OF A VARIANT MEANS TARGETED TREATMENT IS NOT AVAILABLE
423 WILDTYPE RESULT OBTAINED – WHERE THE ABSENCE OF A VARIANT MEANS TARGETED TREATMENT IS AVAILABLE OR WHERE PROGNOSTIC/ACTIONABLE INFORMATION IS PROVIDED
431 TARGET DETECTED AT A LEVEL REQUIRING CLINICAL ACTION
432 NO TARGET DETECTED OR TARGET DETECTED BELOW A LEVEL REQUIRING CLINICAL ACTION
961 ACTIONABLE PHARMACOGENOMIC VARIANT DETECTED
962 NO ACTIONABLE PHARMACOGENOMIC VARIANT DETECTED
971 FAILURE
981 ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED IN GENE NOT ASSOCIATED WITH TUMOUR TYPE/INCIDENTAL FINDING
991 OTHER (NOT LISTED)
992 CAVEATED RESULT