NHS North West Genomics
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NHS North West Genomics - Local Development build (v2.0.12) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

: North West Genomics Test Code - TTL Representation

Active as of 2026-06-04

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

 a fhir:CodeSystem ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "NWTestCode"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem NWTestCode</b></p><a name=\"NWTestCode\"> </a><a name=\"hcNWTestCode\"> </a><p>This case-sensitive code system <code>https://fhir.nwgenomics.nhs.uk/CodeSystem/NWTestCode</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style=\"white-space:nowrap\">HX01<a name=\"NWTestCode-HX01\"> </a></td><td>Genomic testing (Haemato-Oncology) Not in National Genomic Test Directory</td></tr><tr><td style=\"white-space:nowrap\">MX01.1<a name=\"NWTestCode-MX01.461\"> </a></td><td>Genomic testing (Solid Tumour), Not in National Genomic Test Directory</td></tr><tr><td style=\"white-space:nowrap\">MX02.1<a name=\"NWTestCode-MX02.461\"> </a></td><td>BRAF V600E Testing, Lynch syndrome</td></tr><tr><td style=\"white-space:nowrap\">MX04.1<a name=\"NWTestCode-MX04.461\"> </a></td><td>DNA to be stored, Cancer (Other)</td></tr><tr><td style=\"white-space:nowrap\">MX05.1<a name=\"NWTestCode-MX05.461\"> </a></td><td>RNA to be stored, Cancer (Other)</td></tr><tr><td style=\"white-space:nowrap\">MX07.1<a name=\"NWTestCode-MX07.461\"> </a></td><td>FaR-RMS trial, Multi-target NGS Panel, small variant</td></tr><tr><td style=\"white-space:nowrap\">MX07.2<a name=\"NWTestCode-MX07.462\"> </a></td><td>FaR-RMS trial, Multi-target NGS panel, structural variant</td></tr><tr><td style=\"white-space:nowrap\">MX08.1<a name=\"NWTestCode-MX08.461\"> </a></td><td>Melanoma, Detection trial, small variant (BRAF, NRAS, TERT)</td></tr><tr><td style=\"white-space:nowrap\">MX10.1<a name=\"NWTestCode-MX10.461\"> </a></td><td>Triple-Negative Myeloproliferative Neoplasm (MPN), MPL non-canonical variant screening</td></tr><tr><td style=\"white-space:nowrap\">MX11.1<a name=\"NWTestCode-MX11.461\"> </a></td><td>Acute Myeloid Leukaemia (AML), FLT3-ITD MRD</td></tr><tr><td style=\"white-space:nowrap\">MX12.1<a name=\"NWTestCode-MX12.461\"> </a></td><td>Large-Cell Neuroendocrine Carcinoma (LCNEC) Project</td></tr><tr><td style=\"white-space:nowrap\">MX13.1<a name=\"NWTestCode-MX13.461\"> </a></td><td>Colorectal Cancer, Multi-target ctDNA NGS panel, small variant</td></tr><tr><td style=\"white-space:nowrap\">MX14.1<a name=\"NWTestCode-MX14.461\"> </a></td><td>Cancer of Unknown Primary, Multi-target ctDNA NGS panel, small variant</td></tr><tr><td style=\"white-space:nowrap\">RX01.1<a name=\"NWTestCode-RX01.461\"> </a></td><td>Genomic testing (Rare Disease) Not in National Genomic Test Directory</td></tr><tr><td style=\"white-space:nowrap\">RX02.1<a name=\"NWTestCode-RX02.461\"> </a></td><td>Genomic testing Research Study</td></tr><tr><td style=\"white-space:nowrap\">RX03.1<a name=\"NWTestCode-RX03.461\"> </a></td><td>Complement Tx i-Gain Clinical Trial</td></tr><tr><td style=\"white-space:nowrap\">RX03.2<a name=\"NWTestCode-RX03.462\"> </a></td><td>Genomic testing Clinical Trial</td></tr><tr><td style=\"white-space:nowrap\">RX04.1<a name=\"NWTestCode-RX04.461\"> </a></td><td>Molecular Pathology of Human Genetic Disease (HumGenDis)</td></tr><tr><td style=\"white-space:nowrap\">RX05.1<a name=\"NWTestCode-RX05.461\"> </a></td><td>LEAP Study</td></tr><tr><td style=\"white-space:nowrap\">RX06.1<a name=\"NWTestCode-RX06.461\"> </a></td><td>Implementing Pharmocogenetics to Improve Prescribing (IPTIP)</td></tr><tr><td style=\"white-space:nowrap\">RX07.1<a name=\"NWTestCode-RX07.461\"> </a></td><td>TPMT (Thiopurine S-methyltransferase) genotyping (Targeted variant testing)</td></tr><tr><td style=\"white-space:nowrap\">RX08.1<a name=\"NWTestCode-RX08.461\"> </a></td><td>Factor V Leiden and Prothrombin thrombophilia (FVL and PGV)</td></tr><tr><td style=\"white-space:nowrap\">RX09.1<a name=\"NWTestCode-RX09.461\"> </a></td><td>Genome-wide DNA Methylation Profiling (Methylation testing)</td></tr><tr><td style=\"white-space:nowrap\">RX11.1<a name=\"NWTestCode-RX11.461\"> </a></td><td>Jewish BRCA Project Germline Screening</td></tr><tr><td style=\"white-space:nowrap\">RX16.1<a name=\"NWTestCode-RX16.461\"> </a></td><td>FOVEA Study</td></tr><tr><td style=\"white-space:nowrap\">RX18.1<a name=\"NWTestCode-RX18.461\"> </a></td><td>Inherited ovarian cancer (without breast cancer) RetroBRCA Project</td></tr><tr><td style=\"white-space:nowrap\">RX18.2<a name=\"NWTestCode-RX18.462\"> </a></td><td>Inherited breast cancer and ovarian cancer RetroBRCA Project</td></tr><tr><td style=\"white-space:nowrap\">RX19.1<a name=\"NWTestCode-RX19.461\"> </a></td><td>PROGRESS Study</td></tr><tr><td style=\"white-space:nowrap\">RX20.1<a name=\"NWTestCode-RX20.461\"> </a></td><td>Renal Tract Abnormalities Study</td></tr><tr><td style=\"white-space:nowrap\">RX21.1<a name=\"NWTestCode-RX21.461\"> </a></td><td>Ashkenazi Jewish and Polish Population Screening (Targeted variant testing)</td></tr><tr><td style=\"white-space:nowrap\">XX01.1<a name=\"NWTestCode-XX01.461\"> </a></td><td>Not Processed (No Extraction)</td></tr><tr><td style=\"white-space:nowrap\">XX02.1<a name=\"NWTestCode-XX02.461\"> </a></td><td>Cell line extraction &amp; aliquot for DNA storage (Other)</td></tr></table></div>"^^rdf:XMLLiteral ]
  ] ; # 
  fhir:url [
fhir:v "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWTestCode"^^xsd:anyURI ;
fhir:l <https://fhir.nwgenomics.nhs.uk/CodeSystem/NWTestCode>
  ] ; # 
  fhir:version [ fhir:v "2.0.12"] ; # 
  fhir:name [ fhir:v "NWTestCode"] ; # 
  fhir:title [ fhir:v "North West Genomics Test Code"] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:experimental [ fhir:v false] ; # 
  fhir:date [ fhir:v "2026-06-04"^^xsd:date] ; # 
  fhir:publisher [ fhir:v "NHS North West Genomics"] ; # 
  fhir:contact ( [
    ( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "https://www.nwgenomics.nhs.uk/contact-us" ]     ] )
  ] ) ; # 
  fhir:description [ fhir:v "HL7 v2 CodeSystem : NWTestCode"] ; # 
  fhir:jurisdiction ( [
    ( fhir:coding [
fhir:system [
fhir:v "urn:iso:std:iso:3166"^^xsd:anyURI ;
fhir:l <urn:iso:std:iso:3166>       ] ;
fhir:code [ fhir:v "GB" ] ;
fhir:display [ fhir:v "United Kingdom of Great Britain and Northern Ireland" ]     ] )
  ] ) ; # 
  fhir:caseSensitive [ fhir:v true] ; # 
  fhir:content [ fhir:v "complete"] ; # 
  fhir:count [ fhir:v "32"^^xsd:nonNegativeInteger] ; # 
  fhir:concept ( [
fhir:code [ fhir:v "HX01" ] ;
fhir:display [ fhir:v "Genomic testing (Haemato-Oncology) Not in National Genomic Test Directory" ]
  ] [
fhir:code [ fhir:v "MX01.1" ] ;
fhir:display [ fhir:v "Genomic testing (Solid Tumour), Not in National Genomic Test Directory" ]
  ] [
fhir:code [ fhir:v "MX02.1" ] ;
fhir:display [ fhir:v "BRAF V600E Testing, Lynch syndrome" ]
  ] [
fhir:code [ fhir:v "MX04.1" ] ;
fhir:display [ fhir:v "DNA to be stored, Cancer (Other)" ]
  ] [
fhir:code [ fhir:v "MX05.1" ] ;
fhir:display [ fhir:v "RNA to be stored, Cancer (Other)" ]
  ] [
fhir:code [ fhir:v "MX07.1" ] ;
fhir:display [ fhir:v "FaR-RMS trial, Multi-target NGS Panel, small variant" ]
  ] [
fhir:code [ fhir:v "MX07.2" ] ;
fhir:display [ fhir:v "FaR-RMS trial, Multi-target NGS panel, structural variant" ]
  ] [
fhir:code [ fhir:v "MX08.1" ] ;
fhir:display [ fhir:v "Melanoma, Detection trial, small variant (BRAF, NRAS, TERT)" ]
  ] [
fhir:code [ fhir:v "MX10.1" ] ;
fhir:display [ fhir:v "Triple-Negative Myeloproliferative Neoplasm (MPN), MPL non-canonical variant screening" ]
  ] [
fhir:code [ fhir:v "MX11.1" ] ;
fhir:display [ fhir:v "Acute Myeloid Leukaemia (AML), FLT3-ITD MRD" ]
  ] [
fhir:code [ fhir:v "MX12.1" ] ;
fhir:display [ fhir:v "Large-Cell Neuroendocrine Carcinoma (LCNEC) Project" ]
  ] [
fhir:code [ fhir:v "MX13.1" ] ;
fhir:display [ fhir:v "Colorectal Cancer, Multi-target ctDNA NGS panel, small variant" ]
  ] [
fhir:code [ fhir:v "MX14.1" ] ;
fhir:display [ fhir:v "Cancer of Unknown Primary, Multi-target ctDNA NGS panel, small variant" ]
  ] [
fhir:code [ fhir:v "RX01.1" ] ;
fhir:display [ fhir:v "Genomic testing (Rare Disease) Not in National Genomic Test Directory" ]
  ] [
fhir:code [ fhir:v "RX02.1" ] ;
fhir:display [ fhir:v "Genomic testing Research Study" ]
  ] [
fhir:code [ fhir:v "RX03.1" ] ;
fhir:display [ fhir:v "Complement Tx i-Gain Clinical Trial" ]
  ] [
fhir:code [ fhir:v "RX03.2" ] ;
fhir:display [ fhir:v "Genomic testing Clinical Trial" ]
  ] [
fhir:code [ fhir:v "RX04.1" ] ;
fhir:display [ fhir:v "Molecular Pathology of Human Genetic Disease (HumGenDis)" ]
  ] [
fhir:code [ fhir:v "RX05.1" ] ;
fhir:display [ fhir:v "LEAP Study" ]
  ] [
fhir:code [ fhir:v "RX06.1" ] ;
fhir:display [ fhir:v "Implementing Pharmocogenetics to Improve Prescribing (IPTIP)" ]
  ] [
fhir:code [ fhir:v "RX07.1" ] ;
fhir:display [ fhir:v "TPMT (Thiopurine S-methyltransferase) genotyping (Targeted variant testing)" ]
  ] [
fhir:code [ fhir:v "RX08.1" ] ;
fhir:display [ fhir:v "Factor V Leiden and Prothrombin thrombophilia (FVL and PGV)" ]
  ] [
fhir:code [ fhir:v "RX09.1" ] ;
fhir:display [ fhir:v "Genome-wide DNA Methylation Profiling (Methylation testing)" ]
  ] [
fhir:code [ fhir:v "RX11.1" ] ;
fhir:display [ fhir:v "Jewish BRCA Project Germline Screening" ]
  ] [
fhir:code [ fhir:v "RX16.1" ] ;
fhir:display [ fhir:v "FOVEA Study" ]
  ] [
fhir:code [ fhir:v "RX18.1" ] ;
fhir:display [ fhir:v "Inherited ovarian cancer (without breast cancer) RetroBRCA Project" ]
  ] [
fhir:code [ fhir:v "RX18.2" ] ;
fhir:display [ fhir:v "Inherited breast cancer and ovarian cancer RetroBRCA Project" ]
  ] [
fhir:code [ fhir:v "RX19.1" ] ;
fhir:display [ fhir:v "PROGRESS Study" ]
  ] [
fhir:code [ fhir:v "RX20.1" ] ;
fhir:display [ fhir:v "Renal Tract Abnormalities Study" ]
  ] [
fhir:code [ fhir:v "RX21.1" ] ;
fhir:display [ fhir:v "Ashkenazi Jewish and Polish Population Screening (Targeted variant testing)" ]
  ] [
fhir:code [ fhir:v "XX01.1" ] ;
fhir:display [ fhir:v "Not Processed (No Extraction)" ]
  ] [
fhir:code [ fhir:v "XX02.1" ] ;
fhir:display [ fhir:v "Cell line extraction & aliquot for DNA storage (Other)" ]
  ] ) . #