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
{
"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"
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},
{
"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."
}
]
}