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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{
  "resourceType" : "Observation",
  "id" : "region-studied-egfr-dpcr",
  "meta" : {
    "profile" : [
      🔗 "https://fhir.nwgenomics.nhs.uk/StructureDefinition/GenomicObservation"
    ]
  },
  "language" : "en",
  "text" : {
    "status" : "generated",
    "div" : "<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>\n</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>"
  },
  "identifier" : [
    {
      "value" : "a151b1ed-5aef-4c36-af50-987cfbd5bad4"
    }
  ],
  "status" : "final",
  "category" : [
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code" : "GE",
          "display" : "Genetics"
        }
      ]
    }
  ],
  "code" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "53041-0",
        "display" : "DNA region of interest panel"
      }
    ]
  },
  "subject" : {
    "reference" : "urn:uuid:2160525b-0168-4f40-8ebf-9b053052a62c",
    "display" : "Theon SHEFFIELD"
  },
  "effectiveDateTime" : "2026-07-13T10:37:26+00:00",
  "note" : [
    {
      "text" : "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."
    }
  ],
  "component" : [
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48018-6",
            "display" : "Gene studied [ID]"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://www.genenames.org",
            "code" : "HGNC:3236",
            "display" : "EGFR"
          }
        ]
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "51958-7",
            "display" : "Transcript reference sequence [ID]"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://www.ncbi.nlm.nih.gov/nuccore",
            "code" : "NM_005228.5",
            "display" : "EGFR transcript NM_005228.5"
          }
        ]
      }
    }
  ]
}