<?xml version="1.0" encoding="UTF-8"?>

<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"/>
  </meta>
  <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"/>
  </extension>
  <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"/>
      </coding>
    </valueCodeableConcept>
  </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"/>
    </valueReference>
  </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>
      </valueCodeableConcept>
    </extension>
  </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>