{
  "resourceType" : "Procedure",
  "id" : "genomic-study-analysis-egfr-dpcr",
  "meta" : {
    "profile" : ["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis"]
  },
  "language" : "en",
  "text" : {
    "status" : "extensions",
    "div" : "<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>\n</div></blockquote></div>"
  },
  "extension" : [{
    "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-title",
    "valueString" : "EGFR ctDNA digital PCR"
  },
  {
    "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type",
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs",
        "code" : "targeted-variant-analysis",
        "display" : "Targeted variant analysis"
      }]
    }
  },
  {
    "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen",
    "valueReference" : {
      "reference" : "urn:uuid:b930b4c4-327a-4728-8bb9-f90061914cc5"
    }
  },
  {
    "extension" : [{
      "url" : "description",
      "valueString" : "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."
    },
    {
      "url" : "studied",
      "valueCodeableConcept" : {
        "coding" : [{
          "system" : "http://www.genenames.org",
          "code" : "HGNC:3236",
          "display" : "EGFR"
        }]
      }
    }],
    "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions"
  }],
  "identifier" : [{
    "value" : "e1e2150d-ba34-4247-83a2-5bc9ab93ba22"
  }],
  "status" : "completed",
  "category" : {
    "coding" : [{
      "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
      "code" : "laboratory"
    }]
  },
  "subject" : {
    "reference" : "urn:uuid:2160525b-0168-4f40-8ebf-9b053052a62c",
    "display" : "Theon SHEFFIELD"
  },
  "performedDateTime" : "2026-07-13T10:37:26+00:00",
  "performer" : [{
    "actor" : {
      "type" : "Organization",
      "identifier" : {
        "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
        "value" : "699X0"
      },
      "display" : "NW GMSA"
    }
  }],
  "note" : [{
    "text" : "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."
  }]
}