NHS North West Genomics
2.2.0 - ci-build
NHS North West Genomics
2.2.0 - ci-build
NHS North West Genomics - Local Development build (v2.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
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<timestamp value="2026-08-27T09:41:20+00:00"/>
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<div xmlns="http://www.w3.org/1999/xhtml"><a name="MessageHeader_null"> </a><p class="res-header-id"><b>Generated Narrative: MessageHeader </b></p><p><b>event</b>: <a href="http://terminology.hl7.org/7.3.0/CodeSystem-v2-0003.html#v2-0003-R01">event: R01</a> (ORU/ACK - Unsolicited transmission of an observation message)</p><h3>Destinations</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Endpoint</b></td><td><b>Receiver</b></td></tr><tr><td style="display: none">*</td><td><a href="https://simplifier.net/resolve?scope=fhir.r4.ukcore.stu3.currentbuild@0.29.0-pre-release&canonical=https://fhir.nwgenomics.nhs.uk/Endpoint/EPR">https://fhir.nwgenomics.nhs.uk/Endpoint/EPR</a></td><td>Identifier: <a href="NamingSystem-ods-organization-code-namingsystem.html" title="The identifier system for an Organisation registered with the Organisation Data Service (ODS).">ODS Organisation Code</a>/RR8</td></tr></table><p><b>sender</b>: Identifier: <a href="NamingSystem-ods-organization-code-namingsystem.html" title="The identifier system for an Organisation registered with the Organisation Data Service (ODS).">ODS Organisation Code</a>/699X0</p><h3>Sources</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Software</b></td><td><b>Endpoint</b></td></tr><tr><td style="display: none">*</td><td>NW GLH</td><td><a href="https://simplifier.net/resolve?scope=fhir.r4.ukcore.stu3.currentbuild@0.29.0-pre-release&canonical=https://fhir.nwgenomics.nhs.uk/Endpoint/HIVE">https://fhir.nwgenomics.nhs.uk/Endpoint/HIVE</a></td></tr></table><p><b>focus</b>: <a href="Bundle-ctdna9737383222-testresults.html#urn-uuid-f3244cdf-95d8-4124-a026-46417a4fcf19">Diagnostic Report for 'PACKAGE: M4.14 - Non-Small Cell Lung Cancer, Multi-target ctDNA combined Multi-target NGS panel - small variant (EGFR, ALK, BRAF, KRAS, MET exon 14 skipping and copy number variations) and structural variant (ROS1, RET, ALK, NTRK1, NTRK2, NTRK3, MET exon' for '->Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)'</a></p></div>
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<div xmlns="http://www.w3.org/1999/xhtml"><a name="Patient_null"> </a><p class="res-header-id"><b>Generated Narrative: Patient </b></p><p style="border: 1px #661aff solid; background-color: #e6e6ff; padding: 10px;">Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)</p><hr/><table class="grid"><tr><td style="background-color: #f3f5da" title="Other Id (see the one above)">Other Id:</td><td colspan="3">Medical record number/RXR0817610</td></tr><tr><td style="background-color: #f3f5da" title="Ways to contact the Patient">Contact Detail</td><td colspan="3">LS1 3EX </td></tr></table></div>
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<div xmlns="http://www.w3.org/1999/xhtml"><a name="Encounter_null"> </a><p class="res-header-id"><b>Generated Narrative: Encounter </b></p><p><b>identifier</b>: Account number/SP26-01847</p><p><b>status</b>: Finished</p><p><b>class</b>: <a href="http://terminology.hl7.org/7.3.0/CodeSystem-v3-ActCode.html#v3-ActCode-OBSENC">ActCode: OBSENC</a> (observation encounter)</p><p><b>subject</b>: <a href="Bundle-ctdna9737383222-testresults.html#urn-uuid-5ee15fbb-5332-41df-a6dc-a8d1be8f9fcb">Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)</a></p></div>
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<div xmlns="http://www.w3.org/1999/xhtml"><a name="Organization_null"> </a><p class="res-header-id"><b>Generated Narrative: Organization </b></p><p><b>identifier</b>: <a href="NamingSystem-ods-organization-code-namingsystem.html" title="The identifier system for an Organisation registered with the Organisation Data Service (ODS).">ODS Organisation Code</a>/699X0</p><p><b>name</b>: NHS North West Genomics</p></div>
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<name value="NHS North West Genomics"/>
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<div xmlns="http://www.w3.org/1999/xhtml"><a name="ServiceRequest_null"> </a><p class="res-header-id"><b>Generated Narrative: ServiceRequest </b></p><p><b>identifier</b>: Placer Identifier/1234-RR8, Filler Identifier/T26-59X2</p><p><b>status</b>: Completed</p><p><b>intent</b>: Order</p><p><b>category</b>: <span title="Codes:{http://snomed.info/sct 116148004}">Molecular genetics procedure</span></p><p><b>code</b>: <span title="Codes:{https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory M4.14}">Non-Small Cell Lung Cancer, Multi-target ctDNA combined Multi-target NGS panel - small variant (EGFR, ALK, BRAF, KRAS, MET exon 14 skipping and copy number variations) and structural variant (ROS1, RET, ALK, NTRK1, NTRK2, NTRK3, MET exon 14 skipping)</span></p><p><b>subject</b>: <a href="Bundle-ctdna9737383222-testresults.html#urn-uuid-5ee15fbb-5332-41df-a6dc-a8d1be8f9fcb">Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)</a></p><p><b>encounter</b>: <a href="Bundle-ctdna9737383222-testresults.html#urn-uuid-6f531758-c13f-4107-b15a-9d3f4b83a6e5">Encounter: identifier = Account number; status = finished; class = observation encounter (ActCode#OBSENC)</a></p><p><b>requester</b>: Leeds Teaching Hospitals NHS Trust (Identifier: <a href="NamingSystem-ods-organization-code-namingsystem.html" title="The identifier system for an Organisation registered with the Organisation Data Service (ODS).">ODS Organisation Code</a>/RR8)</p><p><b>reasonCode</b>: <span title="Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication M4}">Non-Small Cell Lung Cancer</span></p></div>
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<Observation>
<id value="ctdna9737383222-seqv1"/>
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<div xmlns="http://www.w3.org/1999/xhtml"><a name="Observation_ctdna9737383222-seqv1"> </a><p class="res-header-id"><b>Generated Narrative: Observation ctdna9737383222-seqv1</b></p><a name="ctdna9737383222-seqv1"> </a><a name="hcctdna9737383222-seqv1"> </a><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><p style="margin-bottom: 0px"/><p style="margin-bottom: 0px">Profile: <a href="http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-variant.html">Variant</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></p><p><b>subject</b>: <a href="Bundle-ctdna9737383222-testresults.html#urn-uuid-5ee15fbb-5332-41df-a6dc-a8d1be8f9fcb">Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)</a></p><p><b>effective</b>: 2026-07-14 15:59:16+0000</p><p><b>performer</b>: <a href="Bundle-ctdna9737383222-testresults.html#urn-uuid-3e221516-d8e9-46c7-9756-d3f948dfe607">Organization NHS North West Genomics</a></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA9633-4}">Present</span></p><p><b>method</b>: <span title="Codes:{http://loinc.org LA26398-0}">Sequencing</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48018-6}">Gene studied [ID]</span></p><p><b>value</b>: <span title="Codes:{http://www.genenames.org HGNC:1100}">BRCA1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48002-0}">Genomic source class [Type]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA6683-2}">Germline</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48013-7}">Genomic reference sequence [ID]</span></p><p><b>value</b>: <span title="Codes:{http://www.ncbi.nlm.nih.gov/refseq NC_000017.10}">NC_000017.10</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 92822-6}">Genomic coordinate system [Type]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA30102-0}">1-based character counting</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 69547-8}">Genomic ref allele [ID]</span></p><p><b>value</b>: TCT</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 69551-0}">Genomic alt allele [ID]</span></p><p><b>value</b>: T</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48019-4}">DNA change type</span></p><p><b>value</b>: <span title="Codes:{http://www.sequenceontology.org SO:0000159}">deletion</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 51958-7}">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title="Codes:{http://www.ncbi.nlm.nih.gov/refseq NM_007294.3}">NM_007294.3</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48004-6}">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title="Codes:{http://varnomen.hgvs.org NM_007294.3(BRCA1):c.68_69del}">NM_007294.3(BRCA1):c.68_69del</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48005-3}">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title="Codes:{http://varnomen.hgvs.org p.(Glu23ValfsTer17)}">p.(Glu23ValfsTer17)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81290-9}">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: <span title="Codes:{http://varnomen.hgvs.org g.41276047_41276048del}">g.41276047_41276048del</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 53037-8}">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title="Codes:">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 94186-4}">Origin of germline genetic variant [Type]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA26320-4}">Maternal</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81254-5}">Genomic allele start-end</span></p><p><b>value</b>: 41276046-?</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81258-6}">Sample variant allelic frequency</span></p><p><b>value</b>: 0.33 decimal</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 53034-5}">Allelic state</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA6706-1}">heterozygous</span></p></blockquote></div>
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<div xmlns="http://www.w3.org/1999/xhtml"><a name="Observation_ctdna9737383222-icnv1"> </a><p class="res-header-id"><b>Generated Narrative: Observation ctdna9737383222-icnv1</b></p><a name="ctdna9737383222-icnv1"> </a><a name="hcctdna9737383222-icnv1"> </a><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><p style="margin-bottom: 0px"/><p style="margin-bottom: 0px">Profile: <a href="http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-variant.html">Variant</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></p><p><b>subject</b>: <a href="Bundle-ctdna9737383222-testresults.html#urn-uuid-5ee15fbb-5332-41df-a6dc-a8d1be8f9fcb">Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)</a></p><p><b>effective</b>: 2026-07-14 15:59:16+0000</p><p><b>performer</b>: <a href="Bundle-ctdna9737383222-testresults.html#urn-uuid-3e221516-d8e9-46c7-9756-d3f948dfe607">Organization NHS North West Genomics</a></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA9633-4}">Present</span></p><p><b>method</b>: <span title="Codes:{http://loinc.org LA26398-0}">Sequencing</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48018-6}">Gene studied [ID]</span></p><p><b>value</b>: <span title="Codes:{http://www.genenames.org HGNC:3603}">FBN1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48002-0}">Genomic source class [Type]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA6683-2}">Germline</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48013-7}">Genomic reference sequence [ID]</span></p><p><b>value</b>: <span title="Codes:{http://www.ncbi.nlm.nih.gov/refseq NC_000015.9}">NC_000015.9</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 92822-6}">Genomic coordinate system [Type]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA30102-0}">1-based character counting</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 69547-8}">Genomic ref allele [ID]</span></p><p><b>value</b>: C</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 69551-0}">Genomic alt allele [ID]</span></p><p><b>value</b>: <DEL></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48019-4}">DNA change type</span></p><p><b>value</b>: <span title="Codes:{http://www.sequenceontology.org SO:0001019}">copy_number_variation</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 51958-7}">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title="Codes:{http://www.ncbi.nlm.nih.gov/refseq NM_000138.4}">NM_000138.4</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48004-6}">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title="Codes:{http://varnomen.hgvs.org NM_000138.4(FBN1):exon13_to_exon15del}">NM_000138.4(FBN1):exon13_to_exon15del</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81290-9}">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: <span title="Codes:{http://varnomen.hgvs.org g.48797222_48802366del}">g.48797222_48802366del</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 53037-8}">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title="Codes:">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 94186-4}">Origin of germline genetic variant [Type]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA26320-4}">Maternal</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81302-2}">Structural variant inner start and end</span></p><p><b>value</b>: 48797221-48802366</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81258-6}">Sample variant allelic frequency</span></p><p><b>value</b>: 0.33 decimal</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span 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<Observation>
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<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><a name="Observation_ctdna9737383222-mcnv1"> </a><p class="res-header-id"><b>Generated Narrative: Observation ctdna9737383222-mcnv1</b></p><a name="ctdna9737383222-mcnv1"> </a><a name="hcctdna9737383222-mcnv1"> </a><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><p style="margin-bottom: 0px"/><p style="margin-bottom: 0px">Profile: <a href="http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-variant.html">Variant</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></p><p><b>subject</b>: <a href="Bundle-ctdna9737383222-testresults.html#urn-uuid-5ee15fbb-5332-41df-a6dc-a8d1be8f9fcb">Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)</a></p><p><b>effective</b>: 2026-07-14 15:59:16+0000</p><p><b>performer</b>: <a href="Bundle-ctdna9737383222-testresults.html#urn-uuid-3e221516-d8e9-46c7-9756-d3f948dfe607">Organization NHS North West Genomics</a></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA9633-4}">Present</span></p><p><b>method</b>: <span title="Codes:{http://loinc.org LA26398-0}">Sequencing</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48002-0}">Genomic source class [Type]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA6683-2}">Germline</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48013-7}">Genomic reference sequence [ID]</span></p><p><b>value</b>: <span title="Codes:{http://www.ncbi.nlm.nih.gov/refseq NC_000023.10}">NC_000023.10</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 92822-6}">Genomic coordinate system [Type]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA30102-0}">1-based character counting</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 69547-8}">Genomic ref allele [ID]</span></p><p><b>value</b>: T</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 69551-0}">Genomic alt allele [ID]</span></p><p><b>value</b>: <DEL></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48019-4}">DNA change type</span></p><p><b>value</b>: <span title="Codes:{http://www.sequenceontology.org SO:0001019}">copy_number_variation</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81290-9}">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: <span title="Codes:{http://varnomen.hgvs.org g.100652797_153792676del}">g.100652797_153792676del</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48001-2}">Cytogenetic (chromosome) location</span></p><p><b>value</b>: <span title="Codes:">Xq22.1-q28</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 53037-8}">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title="Codes:">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 94186-4}">Origin of germline genetic variant [Type]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA26320-4}">Maternal</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81302-2}">Structural variant inner start and end</span></p><p><b>value</b>: 100652796-153792676</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81258-6}">Sample variant allelic frequency</span></p><p><b>value</b>: 0.33 decimal</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 82155-3}">Genomic structural variant copy number</span></p><p><b>value</b>: 1 1<span style="background: LightGoldenRodYellow"> (Details: UCUM code1 = '1')</span></p></blockquote></div>
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<code value="53037-8"/>
<display value="Genetic variation clinical significance [Imp]"/>
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<valueCodeableConcept>
<text value="Pathogenic"/>
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<component>
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<code value="94186-4"/>
<display value="Origin of germline genetic variant [Type]"/>
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<system value="http://loinc.org"/>
<code value="LA26320-4"/>
<display value="Maternal"/>
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<code value="81302-2"/>
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<entry>
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<id value="ctdna9737383222-sv1"/>
<meta>
<profile
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<text>
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<div xmlns="http://www.w3.org/1999/xhtml"><a name="Observation_ctdna9737383222-sv1"> </a><p class="res-header-id"><b>Generated Narrative: Observation ctdna9737383222-sv1</b></p><a name="ctdna9737383222-sv1"> </a><a name="hcctdna9737383222-sv1"> </a><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><p style="margin-bottom: 0px"/><p style="margin-bottom: 0px">Profile: <a href="http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-variant.html">Variant</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></p><p><b>subject</b>: <a href="Bundle-ctdna9737383222-testresults.html#urn-uuid-5ee15fbb-5332-41df-a6dc-a8d1be8f9fcb">Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)</a></p><p><b>effective</b>: 2026-07-14 15:59:16+0000</p><p><b>performer</b>: <a href="Bundle-ctdna9737383222-testresults.html#urn-uuid-3e221516-d8e9-46c7-9756-d3f948dfe607">Organization NHS North West Genomics</a></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA9633-4}">Present</span></p><p><b>method</b>: <span title="Codes:{http://loinc.org LA26398-0}">Sequencing</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48013-7}">Genomic reference sequence [ID]</span></p><p><b>value</b>: <span title="Codes:{http://www.ncbi.nlm.nih.gov/refseq NC_000023.10}">NC_000023.10</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 92822-6}">Genomic coordinate system [Type]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA30102-0}">1-based character counting</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 69547-8}">Genomic ref allele [ID]</span></p><p><b>value</b>: T</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 69551-0}">Genomic alt allele [ID]</span></p><p><b>value</b>: <DEL></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48019-4}">DNA change type</span></p><p><b>value</b>: <span title="Codes:{http://www.sequenceontology.org SO:0000159}">deletion</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81290-9}">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: <span title="Codes:{http://varnomen.hgvs.org g.100652797_153792676del}">g.100652797_153792676del</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 53037-8}">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title="Codes:">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81302-2}">Structural variant inner start and end</span></p><p><b>value</b>: 100652796-153792676</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81258-6}">Sample variant allelic frequency</span></p><p><b>value</b>: 0.33 decimal</p></blockquote></div>
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<div xmlns="http://www.w3.org/1999/xhtml"><a name="DiagnosticReport_null"> </a><p class="res-header-id"><b>Generated Narrative: DiagnosticReport </b></p><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><p style="margin-bottom: 0px"/><p style="margin-bottom: 0px">Profiles: <a href="StructureDefinition-DiagnosticReport.html">Diagnostic Report</a>, <a href="http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-genomic-report.html">Genomic Report</a></p></div><h2><span title="Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/IGEAP ctDNA_M4}, {https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory M4.14}, {http://loinc.org 51969-4}">PACKAGE: M4.14 - Non-Small Cell Lung Cancer, Multi-target ctDNA combined Multi-target NGS panel - small variant (EGFR, ALK, BRAF, KRAS, MET exon 14 skipping and copy number variations) and structural variant (ROS1, RET, ALK, NTRK1, NTRK2, NTRK3, MET exon</span> (<span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span>) </h2><table class="grid"><tr><td>Subject</td><td>Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)</td></tr><tr><td>Relevant Time</td><td>2026-07-14 15:59:16+0000</td></tr><tr><td>Reported</td><td>2026-07-14 15:59:16+0000</td></tr><tr><td>Performer</td><td> <a href="Bundle-ctdna9737383222-testresults.html#urn-uuid-3e221516-d8e9-46c7-9756-d3f948dfe607">NHS North West Genomics</a></td></tr><tr><td>Identifier</td><td> Filler Identifier/T26-59X2</td></tr></table><p><b>Report Details</b></p><table class="grid"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Flags</b></td></tr><tr><td><a href="Bundle-ctdna9737383222-testresults.html#urn-uuid-2327bef8-dff6-4511-970b-0230095a2fef"><span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td><span title="Codes:{http://loinc.org LA9633-4}">Present</span></td><td>Final</td></tr><tr><td><a href="Bundle-ctdna9737383222-testresults.html#urn-uuid-5e1692e3-7e9a-4bc2-b429-17c2e1b7cbec"><span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td><span title="Codes:{http://loinc.org LA9633-4}">Present</span></td><td>Final</td></tr><tr><td><a href="Bundle-ctdna9737383222-testresults.html#urn-uuid-5862205e-6077-40b2-8e63-c0a6b9f55984"><span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td><span title="Codes:{http://loinc.org LA9633-4}">Present</span></td><td>Final</td></tr><tr><td><a href="Bundle-ctdna9737383222-testresults.html#urn-uuid-135cec6d-0120-48eb-ada1-375160163885"><span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td><span title="Codes:{http://loinc.org LA9633-4}">Present</span></td><td>Final</td></tr></table></div>
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