NHS North West Genomics
2.2.5 - ci-build
NHS North West Genomics
2.2.5 - ci-build
NHS North West Genomics - Local Development build (v2.2.5) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
<Procedure xmlns="http://hl7.org/fhir">
<id value="genomic-study-analysis-egfr-dpcr"/>
<meta>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis"/>
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<language value="en"/>
<text>
<status value="extensions"/>
<div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Procedure genomic-study-analysis-egfr-dpcr</b></p><a name="genomic-study-analysis-egfr-dpcr"> </a><a name="hcgenomic-study-analysis-egfr-dpcr"> </a><div style="display: inline-block; background-color: #fbffeb; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><p style="margin-bottom: 0px"/><p style="margin-bottom: 0px">Profile: <a href="http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-genomic-study-analysis.html">Genomic Study Analysis</a></p></div><p><b>Genomic Study Analysis Title</b>: EGFR ctDNA digital PCR</p><p><b>Genomic Study Analysis Method Type</b>: <span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs targeted-variant-analysis}">Targeted variant analysis</span></p><p><b>Genomic Study Analysis Specimen</b>: <a href="Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-b930b4c4-327a-4728-8bb9-f90061914cc5">Specimen: identifier = Filler Identifier: S26-1K1Q; status = available; type = Blood specimen; receivedTime = 2026-06-30</a></p><blockquote><p><b>Genomic Study Analysis Regions</b></p><ul><li>description: EGFR (transcript NM_005228.5) exon 20 T790M hotspot position only, plus in a multiplexed panel a small number of other named hotspots such as exon 19 deletions / L858R. Not the full coding sequence of EGFR.</li><li>studied: <span title="Codes:{http://www.genenames.org HGNC:3236}">EGFR</span></li></ul></blockquote><p><b>identifier</b>: e1e2150d-ba34-4247-83a2-5bc9ab93ba22</p><p><b>status</b>: Completed</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</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>performed</b>: 2026-07-13 10:37:26+0000</p><h3>Performers</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Actor</b></td></tr><tr><td style="display: none">*</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></table><p><b>note</b>: </p><blockquote><div><p>ILLUSTRATIVE: unlike NGS, a negative dPCR result only rules out variants at the specific positions named in the regions studied; 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></div>
</text>
<extension
url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-title">
<valueString value="EGFR ctDNA digital PCR"/>
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<extension
url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs"/>
<code value="targeted-variant-analysis"/>
<display value="Targeted variant analysis"/>
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</extension>
<extension
url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen">
<valueReference>
<reference value="urn:uuid:b930b4c4-327a-4728-8bb9-f90061914cc5"/>
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</extension>
<extension
url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions">
<extension url="description">
<valueString
value="EGFR (transcript NM_005228.5) exon 20 T790M hotspot position only, plus in a multiplexed panel a small number of other named hotspots such as exon 19 deletions / L858R. Not the full coding sequence of EGFR."/>
</extension>
<extension url="studied">
<valueCodeableConcept>
<coding>
<system value="http://www.genenames.org"/>
<code value="HGNC:3236"/>
<display value="EGFR"/>
</coding>
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</extension>
<identifier>
<value value="e1e2150d-ba34-4247-83a2-5bc9ab93ba22"/>
</identifier>
<status value="completed"/>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="laboratory"/>
</coding>
</category>
<subject>
<reference value="urn:uuid:2160525b-0168-4f40-8ebf-9b053052a62c"/>
<display value="Theon SHEFFIELD"/>
</subject>
<performedDateTime value="2026-07-13T10:37:26+00:00"/>
<performer>
<actor>
<type value="Organization"/>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code"/>
<value value="699X0"/>
</identifier>
<display value="NW GMSA"/>
</actor>
</performer>
<note>
<text
value="ILLUSTRATIVE: unlike NGS, a negative dPCR result only rules out variants at the specific positions named in the regions studied; 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>
</Procedure>