Generated Narrative: Composition

Document DiagnosticReport Reference: 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)'

identifier: Uniform Resource Identifier (URI)/urn:uuid:c557f27b-ba56-4f8a-9861-f9e3a402cdc1

status: Final

type: Laboratory report

category: Laboratory Studies (set)

date: 2026-07-14 15:59:16+0000

author: NHS North West Genomics (Identifier: ODS Organisation Code/699X0)

title: 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 - Laboratory Report and Genomic Findings

 <section> <title value="Laboratory Report"/> <code> <coding> <system value="http://loinc.org"/> <code value="81306-3"/> <display value="Variables that apply to the overall study"/> </coding> </code> <text> <status value="generated"/><div xmlns="http://www.w3.org/1999/xhtml"><p><b>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</b> (M4.14), requested by Leeds Teaching Hospitals NHS Trust.</p><p>Placer order number: 1234-RR8. Filler order number: T26-59X2.</p><p>Result: <b>FAILURE</b>. Reported by NHS North West Genomics, interpreted by Jonathan Edgerley.</p></div> </text> <entry> <reference value="urn:uuid:2032aa8f-abea-4f1e-8bc3-8db8cffca53a"/> <type value="DiagnosticReport"/> </entry> </section> <section> <title value="Specimen"/> <code> <coding> <system value="http://snomed.info/sct"/> <code value="123038009"/> <display value="Specimen"/> </coding> </code> <text> <status value="generated"/><div xmlns="http://www.w3.org/1999/xhtml"><p><b>Whole blood specimen</b></p><p>Received: 2026-07-06T00:00:00+00:00</p></div> </text> <entry> <reference value="urn:uuid:ad34dc51-cc4e-407c-a003-276366ef9897"/> <type value="Specimen"/> </entry> </section> <section> <title value="Genomic Findings"/> <code> <coding> <system value="http://loinc.org"/> <code value="69548-6"/> <display value="Genetic variant assessment"/> </coding> </code> <text> <status value="generated"/><div xmlns="http://www.w3.org/1999/xhtml"><table class="grid"><tr><th>Gene</th><th>DNA change (c.HGVS)</th><th>Protein change (p.HGVS)</th><th>Change type</th><th>Zygosity</th><th>Classification</th></tr><tr><td>BRCA1</td><td>NM_007294.3(BRCA1):c.68_69del</td><td>p.(Glu23ValfsTer17)</td><td>deletion</td><td>heterozygous</td><td>Pathogenic</td></tr><tr><td>FBN1</td><td>NM_000138.4(FBN1):exon13_to_exon15del</td><td>-</td><td>copy_number_variation</td><td>-</td><td>Pathogenic</td></tr><tr><td>-</td><td>-</td><td>-</td><td>copy_number_variation</td><td>-</td><td>Pathogenic</td></tr><tr><td>-</td><td>-</td><td>-</td><td>deletion</td><td>-</td><td>Pathogenic</td></tr></table></div> </text> <entry> <reference value="urn:uuid:f866eb21-c93b-4ea6-8e79-780149b39c6e"/> <type value="Observation"/> </entry> <entry> <reference value="urn:uuid:2728faff-ad7c-40af-9f8d-475946d01157"/> <type value="Observation"/> </entry> <entry> <reference value="urn:uuid:faf18f06-de32-49e1-8fb1-a8e87df23a51"/> <type value="Observation"/> </entry> <entry> <reference value="urn:uuid:7f70a970-2deb-47c6-9b4d-a252bda6bdd6"/> <type value="Observation"/> </entry> </section> </Composition> </resource> </entry> <entry> <fullUrl value="urn:uuid:84980fe1-25f9-43a9-bd28-3401796df680"/> <resource> <Patient> <language value="en"/> <text> <status value="generated"/><div xmlns="http://www.w3.org/1999/xhtml"><a name="Patient_null"> </a><p><b>Rob LEEDS</b></p><p>NHS number: 9737383222</p><p>Date of birth: 1978-01-17</p><p>Sex: Male</p><p>Postcode: LS1 3EX</p></div> </text> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="NH"/> </coding> </type> <system value="https://fhir.nhs.uk/Id/nhs-number"/> <value value="9737383222"/> </identifier> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="MR"/> </coding> </type> <value value="RXR0817610"/> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code"/> <value value="RR8"/> </identifier> </assigner> </identifier> <name> <family value="LEEDS"/> <given value="Rob"/> </name> <gender value="male"/> <birthDate value="1978-01-17"/> <address> <postalCode value="LS1 3EX"/> </address> </Patient> </resource> </entry> <entry> <fullUrl value="urn:uuid:ad34dc51-cc4e-407c-a003-276366ef9897"/> <resource> <Specimen> <meta> <profile value="https://fhir.nwgenomics.nhs.uk/StructureDefinition/Specimen"/> </meta> <language value="en"/> <text> <status value="generated"/><div xmlns="http://www.w3.org/1999/xhtml"><a name="Specimen_null"> </a><p class="res-header-id"><b>Generated Narrative: Specimen </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">Profile: <a href="StructureDefinition-Specimen.html">Specimen</a></p></div><p><b>status</b>: Available</p><p><b>type</b>: <span title="Codes:{http://snomed.info/sct 258580003}">Whole blood specimen</span></p><p><b>subject</b>: <a href="Bundle-ctdna9737383222-eulab-document.html#urn-uuid-84980fe1-25f9-43a9-bd28-3401796df680">Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)</a></p><p><b>receivedTime</b>: 2026-07-06 00:00:00+0000</p></div> </text> <status value="available"/> <type> <coding> <system value="http://snomed.info/sct"/> <code value="258580003"/> <display value="Whole blood specimen"/> </coding> </type> <subject> <reference value="urn:uuid:84980fe1-25f9-43a9-bd28-3401796df680"/> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="NH"/> </coding> </type> <system value="https://fhir.nhs.uk/Id/nhs-number"/> <value value="9737383222"/> </identifier> </subject> <receivedTime value="2026-07-06T00:00:00+00:00"/> </Specimen> </resource> </entry> <entry> <fullUrl value="urn:uuid:8f29ff05-48f2-4f1a-a8be-7022dda2b74a"/> <resource> <Encounter> <language value="en"/> <text> <status value="generated"/><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-eulab-document.html#urn-uuid-84980fe1-25f9-43a9-bd28-3401796df680">Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)</a></p></div> </text> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="AN"/> </coding> </type> <value value="SP26-01847"/> </identifier> <status value="finished"/> <class> <system value="http://terminology.hl7.org/CodeSystem/v3-ActCode"/> <code value="OBSENC"/> </class> <subject> <reference value="urn:uuid:84980fe1-25f9-43a9-bd28-3401796df680"/> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="NH"/> </coding> </type> <system value="https://fhir.nhs.uk/Id/nhs-number"/> <value value="9737383222"/> </identifier> </subject> </Encounter> </resource> </entry> <entry> <fullUrl value="urn:uuid:b3bdaa63-3016-4115-97a4-e89f6f9731e0"/> <resource> <ServiceRequest> <language value="en"/> <text> <status value="generated"/><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-eulab-document.html#urn-uuid-84980fe1-25f9-43a9-bd28-3401796df680">Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)</a></p><p><b>encounter</b>: <a href="Bundle-ctdna9737383222-eulab-document.html#urn-uuid-8f29ff05-48f2-4f1a-a8be-7022dda2b74a">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><p><b>specimen</b>: <a href="Bundle-ctdna9737383222-eulab-document.html#urn-uuid-ad34dc51-cc4e-407c-a003-276366ef9897">Specimen: status = available; type = Whole blood specimen; receivedTime = 2026-07-06 00:00:00+0000</a></p></div> </text> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="PLAC"/> </coding> </type> <value value="1234-RR8"/> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code"/> <value value="RR8"/> </identifier> </assigner> </identifier> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="FILL"/> </coding> </type> <system value="https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier"/> <value value="T26-59X2"/> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code"/> <value value="699X0"/> </identifier> </assigner> </identifier> <status value="completed"/> <intent value="order"/> <category> <coding> <system value="http://snomed.info/sct"/> <code value="116148004"/> </coding> </category> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory"/> <code value="M4.14"/> </coding> </code> <subject> <reference value="urn:uuid:84980fe1-25f9-43a9-bd28-3401796df680"/> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="NH"/> </coding> </type> <system value="https://fhir.nhs.uk/Id/nhs-number"/> <value value="9737383222"/> </identifier> </subject> <encounter> <reference value="urn:uuid:8f29ff05-48f2-4f1a-a8be-7022dda2b74a"/> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="AN"/> </coding> </type> <value value="SP26-01847"/> </identifier> </encounter> <requester> <type value="Organization"/> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code"/> <value value="RR8"/> </identifier> <display value="Leeds Teaching Hospitals NHS Trust"/> </requester> <reasonCode> <coding> <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication"/> <code value="M4"/> </coding> </reasonCode> <specimen> <reference value="urn:uuid:ad34dc51-cc4e-407c-a003-276366ef9897"/> <type value="Specimen"/> </specimen> </ServiceRequest> </resource> </entry> <entry> <fullUrl value="urn:uuid:223a5b16-7751-44a3-a890-ac1d6085ade5"/> <resource> <Organization> <language value="en"/> <text> <status value="generated"/><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> </text> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code"/> <value value="699X0"/> </identifier> <name value="NHS North West Genomics"/> </Organization> </resource> </entry> <entry> <fullUrl value="urn:uuid:4b8a115b-cd0a-487b-ac8e-5b9e4f4f78d4"/> <resource> <Binary> <language value="en"/> <contentType value="application/pdf"/> <data value="JVBERi0xLjQKMSAwIG9iago8PC9UeXBlIC9DYXRhbG9nCi9QYWdlcyAyIDAgUgo+PgplbmRvYmoK MiAwIG9iago8PC9UeXBlIC9QYWdlcwovS2lkcyBbMyAwIFJdCi9Db3VudCAxCj4+CmVuZG9iagozIDAgb2JqCjw8L1R5cGUgL1BhZ2UKL1BhcmVudCAyIDAgUgovTWVkaWFCb3ggWzAgMCA1OTUgODQy XQovQ29udGVudHMgNSAwIFIKL1Jlc291cmNlcyA8PC9Qcm9jU2V0IFsvUERGIC9UZXh0XQovRm9udCA8PC9GMSA0IDAgUj4+Cj4+Cj4+CmVuZG9iago0IDAgb2JqCjw8L1R5cGUgL0ZvbnQKL1N1YnR5 cGUgL1R5cGUxCi9OYW1lIC9GMQovQmFzZUZvbnQgL0hlbHZldGljYQovRW5jb2RpbmcgL01hY1JvbWFuRW5jb2RpbmcKPj4KZW5kb2JqCjUgMCBvYmoKPDwvTGVuZ3RoIDUzCj4+CnN0cmVhbQpCVAov RjEgMjAgVGYKMjIwIDQwMCBUZAooRHVtbXkgUERGKSBUagpFVAplbmRzdHJlYW0KZW5kb2JqCnhyZWYKMCA2CjAwMDAwMDAwMDAgNjU1MzUgZgowMDAwMDAwMDA5IDAwMDAwIG4KMDAwMDAwMDA2MyAw MDAwMCBuCjAwMDAwMDAxMjQgMDAwMDAgbgowMDAwMDAwMjc3IDAwMDAwIG4KMDAwMDAwMDM5MiAwMDAwMCBuCnRyYWlsZXIKPDwvU2l6ZSA2Ci9Sb290IDEgMCBSCj4+CnN0YXJ0eHJlZgo0OTUKJSVFT0YK"/> </Binary> </resource> </entry> <entry> <fullUrl value="urn:uuid:b412c3a9-d963-46b4-99d4-bb14f6065702"/> <resource> <DocumentReference> <language value="en"/> <text> <status value="generated"/><div xmlns="http://www.w3.org/1999/xhtml"><a name="DocumentReference_null"> </a><p class="res-header-id"><b>Generated Narrative: DocumentReference </b></p><p><b>identifier</b>: Filler Identifier/T26-59X2</p><p><b>status</b>: Current</p><p><b>type</b>: <span title="Codes:{http://snomed.info/sct 1054161000000101}">Genetic report</span></p><p><b>subject</b>: <a href="Bundle-ctdna9737383222-eulab-document.html#urn-uuid-84980fe1-25f9-43a9-bd28-3401796df680">Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)</a></p><p><b>date</b>: 2026-07-14 15:59:16+0000</p><p><b>custodian</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><blockquote><p><b>content</b></p><h3>Attachments</h3><table class="grid"><tr><td style="display: none">-</td><td><b>ContentType</b></td><td><b>Url</b></td></tr><tr><td style="display: none">*</td><td>application/pdf</td><td><a href="Bundle-ctdna9737383222-eulab-document.html#urn-uuid-4b8a115b-cd0a-487b-ac8e-5b9e4f4f78d4">Binary: application/pdf (845 bytes base64)</a></td></tr></table></blockquote><h3>Contexts</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Encounter</b></td><td><b>Period</b></td><td><b>SourcePatientInfo</b></td><td><b>Related</b></td></tr><tr><td style="display: none">*</td><td><a href="Bundle-ctdna9737383222-eulab-document.html#urn-uuid-8f29ff05-48f2-4f1a-a8be-7022dda2b74a">Encounter: identifier = Account number; status = finished; class = observation encounter (ActCode#OBSENC)</a></td><td>2026-07-14 15:59:16+0000 --> 2026-07-14 15:59:16+0000</td><td>Identifier: Medical record number/RXR0817610</td><td><a href="Bundle-ctdna9737383222-eulab-document.html#urn-uuid-b3bdaa63-3016-4115-97a4-e89f6f9731e0">ServiceRequest 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)</a></td></tr></table></div> </text> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="FILL"/> </coding> </type> <system value="https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier"/> <value value="T26-59X2"/> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code"/> <value value="699X0"/> </identifier> </assigner> </identifier> <status value="current"/> <type> <coding> <system value="http://snomed.info/sct"/> <code value="1054161000000101"/> <display value="Genetic report"/> </coding> </type> <subject> <reference value="urn:uuid:84980fe1-25f9-43a9-bd28-3401796df680"/> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="NH"/> </coding> </type> <system value="https://fhir.nhs.uk/Id/nhs-number"/> <value value="9737383222"/> </identifier> </subject> <date value="2026-07-14T15:59:16+00:00"/> <custodian> <type value="Organization"/> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code"/> <value value="699X0"/> </identifier> </custodian> <content> <attachment> <contentType value="application/pdf"/> <url value="urn:uuid:4b8a115b-cd0a-487b-ac8e-5b9e4f4f78d4"/> </attachment> </content> <context> <encounter> <reference value="urn:uuid:8f29ff05-48f2-4f1a-a8be-7022dda2b74a"/> <type value="Encounter"/> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="AN"/> </coding> </type> <value value="SP26-01847"/> </identifier> </encounter> <period> <start value="2026-07-14T15:59:16+00:00"/> <end value="2026-07-14T15:59:16+00:00"/> </period> <sourcePatientInfo> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="MR"/> </coding> </type> <value value="RXR0817610"/> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code"/> <value value="RR8"/> </identifier> </assigner> </identifier> </sourcePatientInfo> <related> <reference value="urn:uuid:b3bdaa63-3016-4115-97a4-e89f6f9731e0"/> <type value="ServiceRequest"/> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="PLAC"/> </coding> </type> <value value="1234-RR8"/> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code"/> <value value="RR8"/> </identifier> </assigner> </identifier> </related> </context> </DocumentReference> </resource> </entry> <entry> <fullUrl value="urn:uuid:2032aa8f-abea-4f1e-8bc3-8db8cffca53a"/> <resource> <DiagnosticReport> <meta> <profile value="https://fhir.nwgenomics.nhs.uk/StructureDefinition/DiagnosticReport"/> <profile value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report"/> </meta> <language value="en"/> <text> <status value="generated"/><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> NHS North West Genomics (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)</td></tr><tr><td>Identifier</td><td> Filler Identifier/T26-59X2</td></tr><tr><td>Presented Form</td><td> application/pdf @ <a href="urn:uuid:4b8a115b-cd0a-487b-ac8e-5b9e4f4f78d4">urn:uuid:4b8a115b-cd0a-487b-ac8e-5b9e4f4f78d4 <img src="external.png" alt="icon" style="vertical-align: baseline"/></a></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-eulab-document.html#urn-uuid-23b67e47-926e-4382-957d-74cd2d715c57"><span title="Codes:{http://loinc.org 81306-3}">Variables that apply to the overall study</span></a></td><td/><td>Final</td></tr><tr><td><a href="Bundle-ctdna9737383222-eulab-document.html#urn-uuid-f866eb21-c93b-4ea6-8e79-780149b39c6e"><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-eulab-document.html#urn-uuid-2728faff-ad7c-40af-9f8d-475946d01157"><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-eulab-document.html#urn-uuid-faf18f06-de32-49e1-8fb1-a8e87df23a51"><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-eulab-document.html#urn-uuid-7f70a970-2deb-47c6-9b4d-a252bda6bdd6"><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><p><b>Coded Conclusions:</b></p><ul><li><span title="Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode 971}">FAILURE</span></li></ul></div> </text> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="FILL"/> </coding> </type> <system value="https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier"/> <value value="T26-59X2"/> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code"/> <value value="699X0"/> </identifier> </assigner> </identifier> <basedOn> <reference value="urn:uuid:b3bdaa63-3016-4115-97a4-e89f6f9731e0"/> <type value="ServiceRequest"/> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="PLAC"/> </coding> </type> <value value="1234-RR8"/> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code"/> <value value="RR8"/> </identifier> </assigner> </identifier> </basedOn> <status value="final"/> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/> <code value="GE"/> </coding> </category> <code> <coding> <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/IGEAP"/> <code value="ctDNA_M4"/> <display value="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"/> </coding> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory"/> <code value="M4.14"/> <display value="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"/> </coding> <coding> <system value="http://loinc.org"/> <code value="51969-4"/> <display value="Genetic analysis report"/> </coding> </code> <subject> <reference value="urn:uuid:84980fe1-25f9-43a9-bd28-3401796df680"/> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="NH"/> </coding> </type> <system value="https://fhir.nhs.uk/Id/nhs-number"/> <value value="9737383222"/> </identifier> </subject> <encounter> <reference value="urn:uuid:8f29ff05-48f2-4f1a-a8be-7022dda2b74a"/> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="AN"/> </coding> </type> <value value="SP26-01847"/> </identifier> </encounter> <effectiveDateTime value="2026-07-14T15:59:16+00:00"/> <issued value="2026-07-14T15:59:16+00:00"/> <performer> <type value="Organization"/> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code"/> <value value="699X0"/> </identifier> <display value="NHS North West Genomics"/> </performer> <resultsInterpreter> <display value="Jonathan Edgerley"/> </resultsInterpreter> <specimen> <reference value="urn:uuid:ad34dc51-cc4e-407c-a003-276366ef9897"/> <type value="Specimen"/> </specimen> <result> <reference value="urn:uuid:23b67e47-926e-4382-957d-74cd2d715c57"/> <type value="Observation"/> <display value="Variables that apply to the overall study"/> </result> <result> <reference value="urn:uuid:f866eb21-c93b-4ea6-8e79-780149b39c6e"/> <type value="Observation"/> </result> <result> <reference value="urn:uuid:2728faff-ad7c-40af-9f8d-475946d01157"/> <type value="Observation"/> </result> <result> <reference value="urn:uuid:faf18f06-de32-49e1-8fb1-a8e87df23a51"/> <type value="Observation"/> </result> <result> <reference value="urn:uuid:7f70a970-2deb-47c6-9b4d-a252bda6bdd6"/> <type value="Observation"/> </result> <conclusionCode> <coding> <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode"/> <code value="971"/> <display value="FAILURE"/> </coding> </conclusionCode> <presentedForm> <contentType value="application/pdf"/> <url value="urn:uuid:4b8a115b-cd0a-487b-ac8e-5b9e4f4f78d4"/> </presentedForm> </DiagnosticReport> </resource> </entry> <entry> <fullUrl value="urn:uuid:23b67e47-926e-4382-957d-74cd2d715c57"/> <resource> <Observation> <meta> <profile value="https://fhir.nwgenomics.nhs.uk/StructureDefinition/GenomicStudyPanel"/> </meta> <language value="en"/> <text> <status value="generated"/><div xmlns="http://www.w3.org/1999/xhtml"><a name="Observation_null"> </a><p class="res-header-id"><b>Generated Narrative: Observation </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">Profile: <a href="StructureDefinition-GenomicStudyPanel.html">Genomic Study Panel</a></p></div><p><b>identifier</b>: Filler Identifier/T26-59X2</p><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 81306-3}">Variables that apply to the overall study</span></p><p><b>subject</b>: <a href="Bundle-ctdna9737383222-eulab-document.html#urn-uuid-84980fe1-25f9-43a9-bd28-3401796df680">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><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 51967-8}">Genetic disease assessed [ID]</span></p><p><b>value</b>: <span title="Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication M4}">Non-Small Cell Lung Cancer</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 51968-6}">Discrete variation analysis overall interpretation</span></p><p><b>value</b>: <span title="Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode 971}">FAILURE</span></p></blockquote></div> </text> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="FILL"/> </coding> </type> <system value="https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier"/> <value value="T26-59X2"/> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code"/> <value value="699X0"/> </identifier> </assigner> </identifier> <status value="final"/> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/observation-category"/> <code value="laboratory"/> </coding> </category> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/> <code value="GE"/> </coding> </category> <code> <coding> <system value="http://loinc.org"/> <code value="81306-3"/> <display value="Variables that apply to the overall study"/> </coding> </code> <subject> <reference value="urn:uuid:84980fe1-25f9-43a9-bd28-3401796df680"/> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="NH"/> </coding> </type> <system value="https://fhir.nhs.uk/Id/nhs-number"/> <value value="9737383222"/> </identifier> </subject> <effectiveDateTime value="2026-07-14T15:59:16+00:00"/> <component> <code> <coding> <system value="http://loinc.org"/> <code value="51967-8"/> </coding> </code> <valueCodeableConcept> <coding> <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication"/> <code value="M4"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="51968-6"/> </coding> </code> <valueCodeableConcept> <coding> <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode"/> <code value="971"/> <display value="FAILURE"/> </coding> </valueCodeableConcept> </component> </Observation> </resource> </entry> <entry> <fullUrl value="urn:uuid:f866eb21-c93b-4ea6-8e79-780149b39c6e"/> <resource> <Observation> <id value="f866eb21-c93b-4ea6-8e79-780149b39c6e"/> <meta> <profile value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"/> <profile value="https://fhir.nwgenomics.nhs.uk/StructureDefinition/Observation"/> </meta> <language value="en"/> <text> <status value="generated"/><div xmlns="http://www.w3.org/1999/xhtml"><a name="Observation_f866eb21-c93b-4ea6-8e79-780149b39c6e"> </a><p class="res-header-id"><b>Generated Narrative: Observation f866eb21-c93b-4ea6-8e79-780149b39c6e</b></p><a name="f866eb21-c93b-4ea6-8e79-780149b39c6e"> </a><a name="hcf866eb21-c93b-4ea6-8e79-780149b39c6e"> </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">Profiles: <a href="http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-variant.html">Variant</a>, <a href="StructureDefinition-Observation.html">Observation</a></p></div><p><b>identifier</b>: Filler Identifier/T26-59X2-1</p><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-eulab-document.html#urn-uuid-84980fe1-25f9-43a9-bd28-3401796df680">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-eulab-document.html#urn-uuid-223a5b16-7751-44a3-a890-ac1d6085ade5">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> </text> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="FILL"/> </coding> </type> <system value="https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier"/> <value value="T26-59X2-1"/> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code"/> <value value="699X0"/> </identifier> </assigner> </identifier> <status value="final"/> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/observation-category"/> <code value="laboratory"/> </coding> </category> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/> <code value="GE"/> </coding> </category> <code> <coding> <system value="http://loinc.org"/> <code value="69548-6"/> <display value="Genetic variant assessment"/> </coding> </code> <subject> <reference value="urn:uuid:84980fe1-25f9-43a9-bd28-3401796df680"/> </subject> <effectiveDateTime value="2026-07-14T15:59:16+00:00"/> <performer> <reference value="urn:uuid:223a5b16-7751-44a3-a890-ac1d6085ade5"/> </performer> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA9633-4"/> <display value="Present"/> </coding> </valueCodeableConcept> <method> <coding> <system value="http://loinc.org"/> <code value="LA26398-0"/> <display value="Sequencing"/> </coding> </method> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48018-6"/> <display value="Gene studied [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.genenames.org"/> <code value="HGNC:1100"/> <display value="BRCA1"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48002-0"/> <display value="Genomic source class [Type]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA6683-2"/> <display value="Germline"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48013-7"/> <display value="Genomic reference sequence [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.ncbi.nlm.nih.gov/refseq"/> <code value="NC_000017.10"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="92822-6"/> <display value="Genomic coordinate system [Type]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA30102-0"/> <display value="1-based character counting"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="69547-8"/> <display value="Genomic ref allele [ID]"/> </coding> </code> <valueString value="TCT"/> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="69551-0"/> <display value="Genomic alt allele [ID]"/> </coding> </code> <valueString value="T"/> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48019-4"/> <display value="DNA change type"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:0000159"/> <display value="deletion"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="51958-7"/> <display value="Transcript reference sequence [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.ncbi.nlm.nih.gov/refseq"/> <code value="NM_007294.3"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48004-6"/> <display value="DNA change (c.HGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="NM_007294.3(BRCA1):c.68_69del"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48005-3"/> <display value="Amino acid change (pHGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="p.(Glu23ValfsTer17)"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81290-9"/> <display value="Genomic DNA change (gHGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="g.41276047_41276048del"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="53037-8"/> <display value="Genetic variation clinical significance [Imp]"/> </coding> </code> <valueCodeableConcept> <text value="Pathogenic"/> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="94186-4"/> <display value="Origin of germline genetic variant [Type]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA26320-4"/> <display value="Maternal"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81254-5"/> <display value="Genomic allele start-end"/> </coding> </code> <valueRange> <low> <value value="41276046"/> </low> </valueRange> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81258-6"/> <display value="Sample variant allelic frequency"/> </coding> </code> <valueQuantity> <value value="0.33"/> <unit value="decimal"/> <system value="http://unitsofmeasure.org"/> </valueQuantity> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="53034-5"/> <display value="Allelic state"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA6706-1"/> <display value="heterozygous"/> </coding> </valueCodeableConcept> </component> </Observation> </resource> </entry> <entry> <fullUrl value="urn:uuid:2728faff-ad7c-40af-9f8d-475946d01157"/> <resource> <Observation> <id value="2728faff-ad7c-40af-9f8d-475946d01157"/> <meta> <profile value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"/> <profile value="https://fhir.nwgenomics.nhs.uk/StructureDefinition/Observation"/> </meta> <language value="en"/> <text> <status value="generated"/><div xmlns="http://www.w3.org/1999/xhtml"><a name="Observation_2728faff-ad7c-40af-9f8d-475946d01157"> </a><p class="res-header-id"><b>Generated Narrative: Observation 2728faff-ad7c-40af-9f8d-475946d01157</b></p><a name="2728faff-ad7c-40af-9f8d-475946d01157"> </a><a name="hc2728faff-ad7c-40af-9f8d-475946d01157"> </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">Profiles: <a href="http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-variant.html">Variant</a>, <a href="StructureDefinition-Observation.html">Observation</a></p></div><p><b>identifier</b>: Filler Identifier/T26-59X2-2</p><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-eulab-document.html#urn-uuid-84980fe1-25f9-43a9-bd28-3401796df680">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-eulab-document.html#urn-uuid-223a5b16-7751-44a3-a890-ac1d6085ade5">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 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> </text> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="FILL"/> </coding> </type> <system value="https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier"/> <value value="T26-59X2-2"/> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code"/> <value value="699X0"/> </identifier> </assigner> </identifier> <status value="final"/> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/observation-category"/> <code value="laboratory"/> </coding> </category> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/> <code value="GE"/> </coding> </category> <code> <coding> <system value="http://loinc.org"/> <code value="69548-6"/> <display value="Genetic variant assessment"/> </coding> </code> <subject> <reference value="urn:uuid:84980fe1-25f9-43a9-bd28-3401796df680"/> </subject> <effectiveDateTime value="2026-07-14T15:59:16+00:00"/> <performer> <reference value="urn:uuid:223a5b16-7751-44a3-a890-ac1d6085ade5"/> </performer> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA9633-4"/> <display value="Present"/> </coding> </valueCodeableConcept> <method> <coding> <system value="http://loinc.org"/> <code value="LA26398-0"/> <display value="Sequencing"/> </coding> </method> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48018-6"/> <display value="Gene studied [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.genenames.org"/> <code value="HGNC:3603"/> <display value="FBN1"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48002-0"/> <display value="Genomic source class [Type]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA6683-2"/> <display value="Germline"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48013-7"/> <display value="Genomic reference sequence [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.ncbi.nlm.nih.gov/refseq"/> <code value="NC_000015.9"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="92822-6"/> <display value="Genomic coordinate system [Type]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA30102-0"/> <display value="1-based character counting"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="69547-8"/> <display value="Genomic ref allele [ID]"/> </coding> </code> <valueString value="C"/> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="69551-0"/> <display value="Genomic alt allele [ID]"/> </coding> </code> <valueString value="<DEL>"/> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48019-4"/> <display value="DNA change type"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:0001019"/> <display value="copy_number_variation"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="51958-7"/> <display value="Transcript reference sequence [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.ncbi.nlm.nih.gov/refseq"/> <code value="NM_000138.4"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48004-6"/> <display value="DNA change (c.HGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="NM_000138.4(FBN1):exon13_to_exon15del"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81290-9"/> <display value="Genomic DNA change (gHGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="g.48797222_48802366del"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="53037-8"/> <display value="Genetic variation clinical significance [Imp]"/> </coding> </code> <valueCodeableConcept> <text value="Pathogenic"/> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="94186-4"/> <display value="Origin of germline genetic variant [Type]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA26320-4"/> <display value="Maternal"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81302-2"/> <display value="Structural variant inner start and end"/> </coding> </code> <valueRange> <low> <value value="48797221"/> </low> <high> <value value="48802366"/> </high> </valueRange> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81258-6"/> <display value="Sample variant allelic frequency"/> </coding> </code> <valueQuantity> <value value="0.33"/> <unit value="decimal"/> <system value="http://unitsofmeasure.org"/> </valueQuantity> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="82155-3"/> <display value="Genomic structural variant copy number"/> </coding> </code> <valueQuantity> <value value="1"/> <system value="http://unitsofmeasure.org"/> <code value="1"/> </valueQuantity> </component> </Observation> </resource> </entry> <entry> <fullUrl value="urn:uuid:faf18f06-de32-49e1-8fb1-a8e87df23a51"/> <resource> <Observation> <id value="faf18f06-de32-49e1-8fb1-a8e87df23a51"/> <meta> <profile value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"/> <profile value="https://fhir.nwgenomics.nhs.uk/StructureDefinition/Observation"/> </meta> <language value="en"/> <text> <status value="generated"/><div xmlns="http://www.w3.org/1999/xhtml"><a name="Observation_faf18f06-de32-49e1-8fb1-a8e87df23a51"> </a><p class="res-header-id"><b>Generated Narrative: Observation faf18f06-de32-49e1-8fb1-a8e87df23a51</b></p><a name="faf18f06-de32-49e1-8fb1-a8e87df23a51"> </a><a name="hcfaf18f06-de32-49e1-8fb1-a8e87df23a51"> </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">Profiles: <a href="http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-variant.html">Variant</a>, <a href="StructureDefinition-Observation.html">Observation</a></p></div><p><b>identifier</b>: Filler Identifier/T26-59X2-3</p><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-eulab-document.html#urn-uuid-84980fe1-25f9-43a9-bd28-3401796df680">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-eulab-document.html#urn-uuid-223a5b16-7751-44a3-a890-ac1d6085ade5">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> </text> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="FILL"/> </coding> </type> <system value="https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier"/> <value value="T26-59X2-3"/> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code"/> <value value="699X0"/> </identifier> </assigner> </identifier> <status value="final"/> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/observation-category"/> <code value="laboratory"/> </coding> </category> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/> <code value="GE"/> </coding> </category> <code> <coding> <system value="http://loinc.org"/> <code value="69548-6"/> <display value="Genetic variant assessment"/> </coding> </code> <subject> <reference value="urn:uuid:84980fe1-25f9-43a9-bd28-3401796df680"/> </subject> <effectiveDateTime value="2026-07-14T15:59:16+00:00"/> <performer> <reference value="urn:uuid:223a5b16-7751-44a3-a890-ac1d6085ade5"/> </performer> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA9633-4"/> <display value="Present"/> </coding> </valueCodeableConcept> <method> <coding> <system value="http://loinc.org"/> <code value="LA26398-0"/> <display value="Sequencing"/> </coding> </method> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48002-0"/> <display value="Genomic source class [Type]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA6683-2"/> <display value="Germline"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48013-7"/> <display value="Genomic reference sequence [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.ncbi.nlm.nih.gov/refseq"/> <code value="NC_000023.10"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="92822-6"/> <display value="Genomic coordinate system [Type]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA30102-0"/> <display value="1-based character counting"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="69547-8"/> <display value="Genomic ref allele [ID]"/> </coding> </code> <valueString value="T"/> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="69551-0"/> <display value="Genomic alt allele [ID]"/> </coding> </code> <valueString value="<DEL>"/> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48019-4"/> <display value="DNA change type"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:0001019"/> <display value="copy_number_variation"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81290-9"/> <display value="Genomic DNA change (gHGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="g.100652797_153792676del"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48001-2"/> <display value="Cytogenetic (chromosome) location"/> </coding> </code> <valueCodeableConcept> <text value="Xq22.1-q28"/> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="53037-8"/> <display value="Genetic variation clinical significance [Imp]"/> </coding> </code> <valueCodeableConcept> <text value="Pathogenic"/> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="94186-4"/> <display value="Origin of germline genetic variant [Type]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA26320-4"/> <display value="Maternal"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81302-2"/> <display value="Structural variant inner start and end"/> </coding> </code> <valueRange> <low> <value value="100652796"/> </low> <high> <value value="153792676"/> </high> </valueRange> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81258-6"/> <display value="Sample variant allelic frequency"/> </coding> </code> <valueQuantity> <value value="0.33"/> <unit value="decimal"/> <system value="http://unitsofmeasure.org"/> </valueQuantity> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="82155-3"/> <display value="Genomic structural variant copy number"/> </coding> </code> <valueQuantity> <value value="1"/> <system value="http://unitsofmeasure.org"/> <code value="1"/> </valueQuantity> </component> </Observation> </resource> </entry> <entry> <fullUrl value="urn:uuid:7f70a970-2deb-47c6-9b4d-a252bda6bdd6"/> <resource> <Observation> <id value="7f70a970-2deb-47c6-9b4d-a252bda6bdd6"/> <meta> <profile value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"/> <profile value="https://fhir.nwgenomics.nhs.uk/StructureDefinition/Observation"/> </meta> <language value="en"/> <text> <status value="generated"/><div xmlns="http://www.w3.org/1999/xhtml"><a name="Observation_7f70a970-2deb-47c6-9b4d-a252bda6bdd6"> </a><p class="res-header-id"><b>Generated Narrative: Observation 7f70a970-2deb-47c6-9b4d-a252bda6bdd6</b></p><a name="7f70a970-2deb-47c6-9b4d-a252bda6bdd6"> </a><a name="hc7f70a970-2deb-47c6-9b4d-a252bda6bdd6"> </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">Profiles: <a href="http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-variant.html">Variant</a>, <a href="StructureDefinition-Observation.html">Observation</a></p></div><p><b>identifier</b>: Filler Identifier/T26-59X2-4</p><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-eulab-document.html#urn-uuid-84980fe1-25f9-43a9-bd28-3401796df680">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-eulab-document.html#urn-uuid-223a5b16-7751-44a3-a890-ac1d6085ade5">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> </text> <identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="FILL"/> </coding> </type> <system value="https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier"/> <value value="T26-59X2-4"/> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code"/> <value value="699X0"/> </identifier> </assigner> </identifier> <status value="final"/> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/observation-category"/> <code value="laboratory"/> </coding> </category> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/> <code value="GE"/> </coding> </category> <code> <coding> <system value="http://loinc.org"/> <code value="69548-6"/> <display value="Genetic variant assessment"/> </coding> </code> <subject> <reference value="urn:uuid:84980fe1-25f9-43a9-bd28-3401796df680"/> </subject> <effectiveDateTime value="2026-07-14T15:59:16+00:00"/> <performer> <reference value="urn:uuid:223a5b16-7751-44a3-a890-ac1d6085ade5"/> </performer> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA9633-4"/> <display value="Present"/> </coding> </valueCodeableConcept> <method> <coding> <system value="http://loinc.org"/> <code value="LA26398-0"/> <display value="Sequencing"/> </coding> </method> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48013-7"/> <display value="Genomic reference sequence [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.ncbi.nlm.nih.gov/refseq"/> <code value="NC_000023.10"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="92822-6"/> <display value="Genomic coordinate system [Type]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA30102-0"/> <display value="1-based character counting"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="69547-8"/> <display value="Genomic ref allele [ID]"/> </coding> </code> <valueString value="T"/> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="69551-0"/> <display value="Genomic alt allele [ID]"/> </coding> </code> <valueString value="<DEL>"/> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48019-4"/> <display value="DNA change type"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:0000159"/> <display value="deletion"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81290-9"/> <display value="Genomic DNA change (gHGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="g.100652797_153792676del"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="53037-8"/> <display value="Genetic variation clinical significance [Imp]"/> </coding> </code> <valueCodeableConcept> <text value="Pathogenic"/> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81302-2"/> <display value="Structural variant inner start and end"/> </coding> </code> <valueRange> <low> <value value="100652796"/> </low> <high> <value value="153792676"/> </high> </valueRange> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81258-6"/> <display value="Sample variant allelic frequency"/> </coding> </code> <valueQuantity> <value value="0.33"/> <unit value="decimal"/> <system value="http://unitsofmeasure.org"/> </valueQuantity> </component> </Observation> </resource> </entry> </Bundle>