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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<div xmlns="http://www.w3.org/1999/xhtml"><a name="Composition_Composition-GenomicsReport-ctDNA"> </a><p class="res-header-id"><b>Generated Narrative: Composition Composition-GenomicsReport-ctDNA</b></p><a name="Composition-GenomicsReport-ctDNA"> </a><a name="hcComposition-GenomicsReport-ctDNA"> </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="StructureDefinition-Composition-GenomicReport.html">Composition Genomic Report</a></p></div><p><b>Document DiagnosticReport Reference</b>: <a href="Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-0a6ad8ec-b069-4a65-8c65-c7569d8413e3">Diagnostic Report for 'Genetic report' for '->Theon SHEFFIELD'</a></p><p><b>identifier</b>: <code>https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier</code>/T26-59XG</p><p><b>status</b>: Final</p><p><b>type</b>: <span title="Codes:{https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory M4.14}, {http://snomed.info/sct 1054161000000101}">Genetic report</span></p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>date</b>: 2025-10-14 15:59:16+0000</p><p><b>author</b>: 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)</p><p><b>title</b>: Composition Genomics Report ctDNA</p></div>
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<display value="Theon SHEFFIELD"/>
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<date value="2025-10-14T15:59:16+00:00"/>
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<system value="https://fhir.nhs.uk/Id/ods-organization-code"/>
<value value="699X0"/>
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<display value="North West Genomics"/>
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<title value="Composition Genomics Report ctDNA"/>
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<div xmlns="http://www.w3.org/1999/xhtml"><ul><li>Presented Form</li></ul>This is a PDF document which holds the narrative which ideally would be contained in this Composition resource.</div>
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<title value="Findings"/>
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<div xmlns="http://www.w3.org/1999/xhtml"><ul><li>Genomics Findings</li></ul>TODO data from variant and regions studied to be rendered here. For now (phase 1) see PDF, the references to structured data should be ignored.</div>
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<div xmlns="http://www.w3.org/1999/xhtml"><ul><li>Genomics Implications</li></ul>See PDF</div>
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<Patient>
<id value="Patient-Sheffield"/>
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<div xmlns="http://www.w3.org/1999/xhtml"><a name="Patient_Patient-Sheffield"> </a><p class="res-header-id"><b>Generated Narrative: Patient Patient-Sheffield</b></p><a name="Patient-Sheffield"> </a><a name="hcPatient-Sheffield"> </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="StructureDefinition-Patient.html">Patient</a></p></div><p style="border: 1px #661aff solid; background-color: #e6e6ff; padding: 10px;">Theon SHEFFIELD (official) Male, DoB: 1986-09-12 ( Patient internal identifier)</p><hr/><table class="grid"><tr><td style="background-color: #f3f5da" title="Record is active">Active:</td><td colspan="3">true</td></tr><tr><td style="background-color: #f3f5da" title="Other Id (see the one above)">Other Id:</td><td colspan="3">National Health Plan Identifier/9737873858 (use: official, )</td></tr><tr><td style="background-color: #f3f5da" title="Ways to contact the Patient">Contact Detail</td><td colspan="3">SPITAL STREET SHEFFIELD S3 9LB (home)</td></tr><tr><td style="background-color: #f3f5da" title="Patient Links">Links:</td><td colspan="3"><ul><li>General Practitioner: Sheffield Medical Centre (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>/C88622)</li></ul></td></tr></table></div>
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<system value="https://fhir.nhs.uk/Id/nhs-number"/>
<value value="9737873858"/>
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<code value="PI"/>
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<value value="336292"/>
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<identifier>
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<value value="699X0"/>
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<active value="true"/>
<name>
<use value="official"/>
<family value="SHEFFIELD"/>
<given value="Theon"/>
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<birthDate value="1986-09-12"/>
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<use value="home"/>
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<city value="SHEFFIELD"/>
<postalCode value="S3 9LB"/>
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<value value="C88622"/>
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<display value="Sheffield Medical Centre"/>
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<fullUrl value="urn:uuid:6e26d6b3-490e-4348-9d6c-37281567d6ec"/>
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<ServiceRequest>
<id value="ServiceRequest-ctDNA"/>
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<div xmlns="http://www.w3.org/1999/xhtml"><a name="ServiceRequest_ServiceRequest-ctDNA"> </a><p class="res-header-id"><b>Generated Narrative: ServiceRequest ServiceRequest-ctDNA</b></p><a name="ServiceRequest-ctDNA"> </a><a name="hcServiceRequest-ctDNA"> </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">version: 1.0</p><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-ServiceRequest.html">ServiceRequest</a></p></div><p><b>identifier</b>: Filler Identifier/T26-59XG</p><p><b>requisition</b>: Placer Group Number/R26-15AY</p><p><b>status</b>: Active</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-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-2160525b-0168-4f40-8ebf-9b053052a62c">Theon SHEFFIELD</a></p><p><b>requester</b>: <a href="Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-4446ab81-35ef-49cb-b2fe-1d6f1a0dcc02">PractitionerRole: specialty = General Surgery</a></p><p><b>performer</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><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-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-b930b4c4-327a-4728-8bb9-f90061914cc5">Specimen: identifier = Filler Identifier; status = available; type = Blood specimen; receivedTime = 2026-06-30</a></p></div>
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<value value="T26-59XG"/>
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<value value="699X0"/>
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<code value="PGN"/>
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<system
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<value value="R26-15AY"/>
<assigner>
<identifier>
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<value value="699X0"/>
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<status value="active"/>
<intent value="order"/>
<category>
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<code value="116148004"/>
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<code>
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<subject>
<reference value="urn:uuid:2160525b-0168-4f40-8ebf-9b053052a62c"/>
<identifier>
<system value="https://fhir.nhs.uk/Id/nhs-number"/>
<value value="9737873858"/>
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<display value="Theon SHEFFIELD"/>
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<requester>
<reference value="urn:uuid:4446ab81-35ef-49cb-b2fe-1d6f1a0dcc02"/>
<type value="PractitionerRole"/>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code"/>
<value value="RHQ"/>
</identifier>
</requester>
<performer>
<type value="Organization"/>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code"/>
<value value="699X0"/>
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<reasonCode>
<coding>
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<code value="M4"/>
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<specimen>
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<entry>
<fullUrl value="urn:uuid:4446ab81-35ef-49cb-b2fe-1d6f1a0dcc02"/>
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<PractitionerRole>
<id value="4446ab81-35ef-49cb-b2fe-1d6f1a0dcc02"/>
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<div xmlns="http://www.w3.org/1999/xhtml"><a name="PractitionerRole_4446ab81-35ef-49cb-b2fe-1d6f1a0dcc02"> </a><p class="res-header-id"><b>Generated Narrative: PractitionerRole 4446ab81-35ef-49cb-b2fe-1d6f1a0dcc02</b></p><a name="4446ab81-35ef-49cb-b2fe-1d6f1a0dcc02"> </a><a name="hc4446ab81-35ef-49cb-b2fe-1d6f1a0dcc02"> </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="StructureDefinition-PractitionerRole.html">PractitionerRole</a></p></div><p><b>practitioner</b>: Sheffield Lung Doctor (Identifier: <a href="NamingSystem-gmcnumber-namingsystem.html" title="General Medical Council Consultant Code. For more details see: [NHS Data Model Dictionary](https://www.datadictionary.nhs.uk/attributes/general_medical_council_reference_number.html)">GMC Number</a>/C9999998)</p><p><b>organization</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>/RHQ</p><p><b>specialty</b>: <span title="Codes:{https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode 100}">General Surgery</span></p></div>
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<system value="https://fhir.hl7.org.uk/Id/gmc-number"/>
<value value="C9999998"/>
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<display value="Sheffield Lung Doctor"/>
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<organization>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code"/>
<value value="RHQ"/>
</identifier>
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<specialty>
<coding>
<system
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<code value="100"/>
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<entry>
<fullUrl value="urn:uuid:b930b4c4-327a-4728-8bb9-f90061914cc5"/>
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<Specimen>
<id value="Specimen-ctDNA"/>
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<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><a name="Specimen_Specimen-ctDNA"> </a><p class="res-header-id"><b>Generated Narrative: Specimen Specimen-ctDNA</b></p><a name="Specimen-ctDNA"> </a><a name="hcSpecimen-ctDNA"> </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">version: 1.0</p><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-Specimen.html">Specimen</a></p></div><p><b>identifier</b>: Filler Identifier/S26-1K1Q</p><p><b>status</b>: Available</p><p><b>type</b>: <span title="Codes:{http://snomed.info/sct 119297000}">Blood specimen</span></p><p><b>subject</b>: <a href="Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-2160525b-0168-4f40-8ebf-9b053052a62c">Theon SHEFFIELD</a></p><p><b>receivedTime</b>: 2026-06-30</p><h3>Collections</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Collected[x]</b></td></tr><tr><td style="display: none">*</td><td>2026-06-29</td></tr></table></div>
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<type>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/v2-0203"/>
<code value="FILL"/>
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<system
value="https://fhir.nwgenomics.nhs.uk/iGene/SpecimenIdentifier"/>
<value value="S26-1K1Q"/>
<assigner>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code"/>
<value value="699X0"/>
</identifier>
</assigner>
</identifier>
<status value="available"/>
<type>
<coding>
<system value="http://snomed.info/sct"/>
<code value="119297000"/>
<display value="Blood specimen"/>
</coding>
</type>
<subject>
<reference value="urn:uuid:2160525b-0168-4f40-8ebf-9b053052a62c"/>
<identifier>
<system value="https://fhir.nhs.uk/Id/nhs-number"/>
<value value="9737873858"/>
</identifier>
<display value="Theon SHEFFIELD"/>
</subject>
<receivedTime value="2026-06-30"/>
<collection>
<collectedDateTime value="2026-06-29"/>
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<entry>
<fullUrl value="urn:uuid:0a6ad8ec-b069-4a65-8c65-c7569d8413e3"/>
<resource>
<DiagnosticReport>
<id value="DiagnosticReport-ctDNA"/>
<meta>
<versionId value="1.0"/>
<profile
value="https://fhir.nwgenomics.nhs.uk/StructureDefinition/DiagnosticReport"/>
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<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><a name="DiagnosticReport_DiagnosticReport-ctDNA"> </a><p class="res-header-id"><b>Generated Narrative: DiagnosticReport DiagnosticReport-ctDNA</b></p><a name="DiagnosticReport-ctDNA"> </a><a name="hcDiagnosticReport-ctDNA"> </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">version: 1.0</p><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-DiagnosticReport.html">Diagnostic Report</a></p></div><h2><span title="Codes:{https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory M4.14}, {http://snomed.info/sct 1054161000000101}">Genetic report</span> (<span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span>) </h2><table class="grid"><tr><td>Subject</td><td>Theon SHEFFIELD (official) Male, DoB: 1986-09-12 ( Patient internal identifier)</td></tr><tr><td>Relevant Time</td><td>2025-10-14 15:59:16+0000</td></tr><tr><td>Performer</td><td> NW GMSA (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> <code>https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier</code>/T26-59XG</td></tr><tr><td>Presented Form</td><td> application/pdf @ <a href="urn:uuid:d6eeedd1-92d3-45b9-bf33-6401e804425f">urn:uuid:d6eeedd1-92d3-45b9-bf33-6401e804425f <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><td><b>Note</b></td><td><b>Relevant Time</b></td></tr><tr><td><a href="Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-00c22e97-a226-4845-b17a-e24ec1f4f77a"><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><td><blockquote><div><p>ILLUSTRATIVE VALUES ONLY. The allelic frequency component (81258-6) is the field of primary clinical interest for a dPCR ctDNA result: it carries the mutant-allele fraction quantified directly by the assay (droplet/bead-positive fraction, Poisson-corrected), which is what a clinician uses to gauge ctDNA burden and track it serially — analogous to how VAF is used from NGS, but here derived from a targeted few-plex assay rather than sequencing depth.</p>
</div></blockquote></td><td>2026-07-13 10:37:26+0000</td></tr><tr><td><a href="Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-a151b1ed-5aef-4c36-af50-987cfbd5bad4"><span title="Codes:{http://loinc.org 53041-0}">DNA region of interest panel</span></a></td><td/><td>Final</td><td><blockquote><div><p>ILLUSTRATIVE: represents that the digital PCR assay interrogated only the EGFR exon 20 T790M hotspot position (and, in a multiplexed panel, a small number of other named hotspots such as exon 19 deletions / L858R) — not the full coding sequence of EGFR. Unlike NGS, a negative dPCR result only rules out variants at the specific positions named here; it should not be read as 'EGFR negative' more broadly. Coordinate/region detail (start/end, genome build) is omitted from this illustrative example and should be populated from the assay's validated target list in a real implementation.</p>
</div></blockquote></td><td>2026-07-13 10:37:26+0000</td></tr></table><p><b>Coded Conclusions:</b></p><ul><li><span title="Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode 431}">TARGET DETECTED AT A LEVEL REQUIRING CLINICAL ACTION</span></li></ul></div>
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<identifier>
<system
value="https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier"/>
<value value="T26-59XG"/>
<assigner>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code"/>
<value value="699X0"/>
</identifier>
</assigner>
</identifier>
<basedOn>
<reference value="urn:uuid:6e26d6b3-490e-4348-9d6c-37281567d6ec"/>
<type value="ServiceRequest"/>
<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="T26-59XG"/>
<assigner>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code"/>
<value value="699X0"/>
</identifier>
</assigner>
</identifier>
</basedOn>
<status value="final"/>
<category>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
<code value="GE"/>
<display value="Genetics"/>
</coding>
</category>
<code>
<coding>
<system
value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory"/>
<code value="M4.14"/>
</coding>
<coding>
<system value="http://snomed.info/sct"/>
<code value="1054161000000101"/>
<display value="Genetic report"/>
</coding>
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<reference value="urn:uuid:2160525b-0168-4f40-8ebf-9b053052a62c"/>
<identifier>
<system value="https://fhir.nhs.uk/Id/nhs-number"/>
<value value="9737873858"/>
</identifier>
<display value="Theon SHEFFIELD"/>
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<effectiveDateTime value="2025-10-14T15:59:16+00:00"/>
<performer>
<type value="Organization"/>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code"/>
<value value="699X0"/>
</identifier>
<display value="NW GMSA"/>
</performer>
<resultsInterpreter>
<display value="Jonathan Edgerley"/>
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<result>
<reference value="urn:uuid:00c22e97-a226-4845-b17a-e24ec1f4f77a"/>
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<result>
<reference value="urn:uuid:a151b1ed-5aef-4c36-af50-987cfbd5bad4"/>
</result>
<conclusionCode>
<coding>
<system
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<code value="431"/>
<display
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</conclusionCode>
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<contentType value="application/pdf"/>
<language value="en-GB"/>
<url value="urn:uuid:d6eeedd1-92d3-45b9-bf33-6401e804425f"/>
<title value="ctDNA Genomic Report for Theon Sheffield"/>
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</DiagnosticReport>
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<entry>
<fullUrl value="urn:uuid:00c22e97-a226-4845-b17a-e24ec1f4f77a"/>
<resource>
<Observation>
<id value="variant-egfr"/>
<meta>
<profile
value="https://fhir.nwgenomics.nhs.uk/StructureDefinition/Variant"/>
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<language value="en"/>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><a name="Observation_variant-egfr"> </a><p class="res-header-id"><b>Generated Narrative: Observation variant-egfr</b></p><a name="variant-egfr"> </a><a name="hcvariant-egfr"> </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="StructureDefinition-Variant.html">Variant (Observation)</a></p></div><p><b>identifier</b>: 00c22e97-a226-4845-b17a-e24ec1f4f77a</p><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</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-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-2160525b-0168-4f40-8ebf-9b053052a62c">Theon SHEFFIELD</a></p><p><b>effective</b>: 2026-07-13 10:37:26+0000</p><p><b>value</b>: <span title="Codes:{http://loinc.org LA9633-4}">Present</span></p><p><b>note</b>: </p><blockquote><div><p>ILLUSTRATIVE VALUES ONLY. The allelic frequency component (81258-6) is the field of primary clinical interest for a dPCR ctDNA result: it carries the mutant-allele fraction quantified directly by the assay (droplet/bead-positive fraction, Poisson-corrected), which is what a clinician uses to gauge ctDNA burden and track it serially — analogous to how VAF is used from NGS, but here derived from a targeted few-plex assay rather than sequencing depth.</p>
</div></blockquote><p><b>method</b>: <span title="Codes:">Digital PCR (BEAMing / OncoBEAM platform). NOTE: unlike 'Sequencing' (LOINC LA26398-0), the standard LOINC/SNOMED CT answer lists referenced by this IG do not currently include a dedicated coded answer for 'digital PCR' — captured here as free text pending a suitable coded term (e.g. a local or SNOMED CT extension) being agreed with your terminology team.</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 83005-9}">Variant category</span></p><p><b>value</b>: <span title="Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/IGeneVariantCategory SEQV}">Sequence Variant</span></p></blockquote><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:3236}">EGFR</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_005228.5:c.2369C>T}">NM_005228.5:c.2369C>T</span></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:1000002}">substitution</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 LA6684-0}">Somatic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81258-6}">Sample variant allelic frequency [NFr]</span></p><p><b>value</b>: 0.42 %<span style="background: LightGoldenRodYellow"> (Details: UCUM code% = '%')</span></p></blockquote></div>
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<status value="final"/>
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<display value="Genetics"/>
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<category>
<coding>
<system
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<code value="laboratory"/>
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<code>
<coding>
<system value="http://loinc.org"/>
<code value="69548-6"/>
<display value="Genetic variant assessment"/>
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<subject>
<reference value="urn:uuid:2160525b-0168-4f40-8ebf-9b053052a62c"/>
<display value="Theon SHEFFIELD"/>
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<effectiveDateTime value="2026-07-13T10:37:26+00:00"/>
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<code value="LA9633-4"/>
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<note>
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</note>
<method>
<text
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</method>
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<coding>
<system value="http://loinc.org"/>
<code value="83005-9"/>
<display value="Variant category"/>
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</code>
<valueCodeableConcept>
<coding>
<system
value="https://fhir.nwgenomics.nhs.uk/CodeSystem/IGeneVariantCategory"/>
<code value="SEQV"/>
<display value="Sequence Variant"/>
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</component>
<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:3236"/>
<display value="EGFR"/>
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<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48004-6"/>
<display value="DNA change (c.HGVS)"/>
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<coding>
<system value="http://varnomen.hgvs.org"/>
<code value="NM_005228.5:c.2369C>T"/>
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<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:1000002"/>
<display value="substitution"/>
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<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="LA6684-0"/>
<display value="Somatic"/>
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<code>
<coding>
<system value="http://loinc.org"/>
<code value="81258-6"/>
<display value="Sample variant allelic frequency [NFr]"/>
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<valueQuantity>
<value value="0.42"/>
<unit value="%"/>
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<code value="%"/>
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</Observation>
</resource>
</entry>
<entry>
<fullUrl value="urn:uuid:a151b1ed-5aef-4c36-af50-987cfbd5bad4"/>
<resource>
<Observation>
<id value="region-studied-egfr-dpcr"/>
<meta>
<profile
value="https://fhir.nwgenomics.nhs.uk/StructureDefinition/GenomicObservation"/>
</meta>
<language value="en"/>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><a name="Observation_region-studied-egfr-dpcr"> </a><p class="res-header-id"><b>Generated Narrative: Observation region-studied-egfr-dpcr</b></p><a name="region-studied-egfr-dpcr"> </a><a name="hcregion-studied-egfr-dpcr"> </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="StructureDefinition-GenomicObservation.html">Genomic Observation</a></p></div><p><b>identifier</b>: a151b1ed-5aef-4c36-af50-987cfbd5bad4</p><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 53041-0}">DNA region of interest panel</span></p><p><b>subject</b>: <a href="Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-2160525b-0168-4f40-8ebf-9b053052a62c">Theon SHEFFIELD</a></p><p><b>effective</b>: 2026-07-13 10:37:26+0000</p><p><b>note</b>: </p><blockquote><div><p>ILLUSTRATIVE: represents that the digital PCR assay interrogated only the EGFR exon 20 T790M hotspot position (and, in a multiplexed panel, a small number of other named hotspots such as exon 19 deletions / L858R) — not the full coding sequence of EGFR. Unlike NGS, a negative dPCR result only rules out variants at the specific positions named here; it should not be read as 'EGFR negative' more broadly. Coordinate/region detail (start/end, genome build) is omitted from this illustrative example and should be populated from the assay's validated target list in a real implementation.</p>
</div></blockquote><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:3236}">EGFR</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/nuccore NM_005228.5}">EGFR transcript NM_005228.5</span></p></blockquote></div>
</text>
<identifier>
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</identifier>
<status value="final"/>
<category>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
<code value="GE"/>
<display value="Genetics"/>
</coding>
</category>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="53041-0"/>
<display value="DNA region of interest panel"/>
</coding>
</code>
<subject>
<reference value="urn:uuid:2160525b-0168-4f40-8ebf-9b053052a62c"/>
<display value="Theon SHEFFIELD"/>
</subject>
<effectiveDateTime value="2026-07-13T10:37:26+00:00"/>
<note>
<text
value="ILLUSTRATIVE: represents that the digital PCR assay interrogated only the EGFR exon 20 T790M hotspot position (and, in a multiplexed panel, a small number of other named hotspots such as exon 19 deletions / L858R) — not the full coding sequence of EGFR. Unlike NGS, a negative dPCR result only rules out variants at the specific positions named here; it should not be read as 'EGFR negative' more broadly. Coordinate/region detail (start/end, genome build) is omitted from this illustrative example and should be populated from the assay's validated target list in a real implementation."/>
</note>
<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:3236"/>
<display value="EGFR"/>
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</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/nuccore"/>
<code value="NM_005228.5"/>
<display value="EGFR transcript NM_005228.5"/>
</coding>
</valueCodeableConcept>
</component>
</Observation>
</resource>
</entry>
<entry>
<fullUrl value="urn:uuid:13028359-6a38-4dff-8978-55a57dbdfb56"/>
<resource>
<DocumentReference>
<id value="DocumentReference-ctDNA"/>
<meta>
<profile
value="https://fhir.nwgenomics.nhs.uk/StructureDefinition/DocumentReference"/>
</meta>
<language value="en"/>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><a name="DocumentReference_DocumentReference-ctDNA"> </a><p class="res-header-id"><b>Generated Narrative: DocumentReference DocumentReference-ctDNA</b></p><a name="DocumentReference-ctDNA"> </a><a name="hcDocumentReference-ctDNA"> </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="StructureDefinition-DocumentReference.html">DocumentReference</a></p></div><p><b>identifier</b>: <code>http://www.example.org/documentreference/identifier</code>/94bf65ba-cd6c-4601-b339-6d547f424646</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-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-2160525b-0168-4f40-8ebf-9b053052a62c">Theon SHEFFIELD</a></p><p><b>date</b>: 2025-10-14 15:59:16+0000</p><p><b>custodian</b>: NW GMSA (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-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-d6eeedd1-92d3-45b9-bf33-6401e804425f">Binary: application/pdf (845 bytes base64)</a></td></tr></table></blockquote><blockquote><p><b>context</b></p><p><b>event</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>period</b>: 2025-10-14 15:59:16+0000 --> 2025-10-14 15:59:16+0000</p><p><b>sourcePatientInfo</b>: Identifier: Medical record number/RXR3302855</p><p><b>related</b>: </p><ul><li><a href="Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-0a6ad8ec-b069-4a65-8c65-c7569d8413e3">Diagnostic Report for 'Genetic report' for '->Theon SHEFFIELD'</a></li><li><a href="Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-6e26d6b3-490e-4348-9d6c-37281567d6ec">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></li></ul></blockquote></div>
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<value value="94bf65ba-cd6c-4601-b339-6d547f424646"/>
<assigner>
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<system value="https://fhir.nhs.uk/Id/ods-organization-code"/>
<value value="699X0"/>
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<status value="current"/>
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<code value="1054161000000101"/>
<display value="Genetic report"/>
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<value value="9737873858"/>
</identifier>
<display value="Theon SHEFFIELD"/>
</subject>
<date value="2025-10-14T15:59:16+00:00"/>
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<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code"/>
<value value="699X0"/>
</identifier>
<display value="NW GMSA"/>
</custodian>
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<attachment>
<contentType value="application/pdf"/>
<url value="urn:uuid:d6eeedd1-92d3-45b9-bf33-6401e804425f"/>
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<context>
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<value value="RXR3302855"/>
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<identifier>
<system
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<value value="RHQ"/>
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<reference value="urn:uuid:0a6ad8ec-b069-4a65-8c65-c7569d8413e3"/>
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<reference value="urn:uuid:6e26d6b3-490e-4348-9d6c-37281567d6ec"/>
<type value="ServiceRequest"/>
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<value value="699X0"/>
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