North West Genomics Testing Workflow (GTW)
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DRAFT Implementation Guide

This is for collaboration and discussion purposes and is subject to change.

North West Genomics Testing Workflow (GTW) - Local Development build (v0.0.1) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

CodeSystem: Genomic Test Directory

Official URL: https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory Version: 0.0.1
Draft as of 2025-02-11 Computable Name: NHSEnglandGenomicTestDirectory

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

Generated Narrative: CodeSystem nhsengland-genomic-test-directory

This case-sensitive code system https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory provides a fragment that includes following codes:

CodeDisplay
R14.1 Acutely unwell children with a likely monogenic disorder
R133.1 Arrhythmogenic right ventricular cardiomyopathy
R391.1 Barth syndrome
R128.1 Brugada syndrome and cardiac sodium channel disease
R129.1 Catecholaminergic polymorphic VT
R132.1 Dilated and Arrhythmogenic cardiomyopathy
R140.1 Elastin-related phenotypes
R384.1 Generalised arterial calcification in infancy
R131.1 Hypertrophic cardiomyopathy
R127.1 Long QT syndrome
R135.2 Paediatric or syndromic cardiomyopathy
R135.3 Paediatric or syndromic cardiomyopathy
R136.1 Primary lymphoedema
R328.1 Progressive cardiac conduction disease
R130.1 Short QT syndrome
R138.1 Sudden unexplained death or survivors of a cardiac event
R240.1 Diagnostic testing for known variant(s)
R242.1 Predictive testing for known familial variant(s)