NHS North West Genomics
2.2.0 - ci-build
NHS North West Genomics
2.2.0 - ci-build
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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"resourceType" : "DiagnosticReport",
"id" : "DiagnosticReport-ctDNA",
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🔗 "https://fhir.nwgenomics.nhs.uk/StructureDefinition/DiagnosticReport"
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"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: DiagnosticReport DiagnosticReport-ctDNA</b></p><a name=\"DiagnosticReport-ctDNA\"> </a><a name=\"hcDiagnosticReport-ctDNA\"> </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\">version: 1.0</p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-DiagnosticReport.html\">Diagnostic Report</a></p></div><h2><span title=\"Codes:{https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory M4.14}, {http://snomed.info/sct 1054161000000101}\">Genetic report</span> (<span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>) </h2><table class=\"grid\"><tr><td>Subject</td><td>Theon SHEFFIELD (official) Male, DoB: 1986-09-12 ( Patient internal identifier)</td></tr><tr><td>Relevant Time</td><td>2025-10-14 15:59:16+0000</td></tr><tr><td>Performer</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><tr><td>Identifier</td><td> <code>https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier</code>/T26-59XG</td></tr><tr><td>Presented Form</td><td> application/pdf @ <a href=\"urn:uuid:d6eeedd1-92d3-45b9-bf33-6401e804425f\">urn:uuid:d6eeedd1-92d3-45b9-bf33-6401e804425f <img src=\"external.png\" alt=\"icon\" style=\"vertical-align: baseline\"/></a></td></tr></table><p><b>Report Details</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Flags</b></td><td><b>Note</b></td><td><b>Relevant Time</b></td></tr><tr><td><a href=\"Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-00c22e97-a226-4845-b17a-e24ec1f4f77a\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td><td><blockquote><div><p>ILLUSTRATIVE VALUES ONLY. The allelic frequency component (81258-6) is the field of primary clinical interest for a dPCR ctDNA result: it carries the mutant-allele fraction quantified directly by the assay (droplet/bead-positive fraction, Poisson-corrected), which is what a clinician uses to gauge ctDNA burden and track it serially — analogous to how VAF is used from NGS, but here derived from a targeted few-plex assay rather than sequencing depth.</p>\n</div></blockquote></td><td>2026-07-13 10:37:26+0000</td></tr><tr><td><a href=\"Bundle-FHIRDocumentGeneticReportBundle-ctDNA.html#urn-uuid-a151b1ed-5aef-4c36-af50-987cfbd5bad4\"><span title=\"Codes:{http://loinc.org 53041-0}\">DNA region of interest panel</span></a></td><td/><td>Final</td><td><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></td><td>2026-07-13 10:37:26+0000</td></tr></table><p><b>Coded Conclusions:</b></p><ul><li><span title=\"Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode 431}\">TARGET DETECTED AT A LEVEL REQUIRING CLINICAL ACTION</span></li></ul></div>"
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"display" : "Theon SHEFFIELD"
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"effectiveDateTime" : "2025-10-14T15:59:16+00:00",
"performer" : [
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"identifier" : {
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"resultsInterpreter" : [
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"title" : "ctDNA Genomic Report for Theon Sheffield"
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