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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: Region Studied - ctDNA

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<Observation xmlns="http://hl7.org/fhir">
  <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"><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>
    <value value="a151b1ed-5aef-4c36-af50-987cfbd5bad4"/>
  </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"/>
      </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/nuccore"/>
        <code value="NM_005228.5"/>
        <display value="EGFR transcript NM_005228.5"/>
      </coding>
    </valueCodeableConcept>
  </component>
</Observation>