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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<div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Observation variant-egfr</b></p><a name="variant-egfr"> </a><a name="hcvariant-egfr"> </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-Variant.html">Variant (Observation)</a></p></div><p><b>identifier</b>: 00c22e97-a226-4845-b17a-e24ec1f4f77a</p><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</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>value</b>: <span title="Codes:{http://loinc.org LA9633-4}">Present</span></p><p><b>note</b>: </p><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>
</div></blockquote><p><b>method</b>: <span title="Codes:">Digital PCR (BEAMing / OncoBEAM platform). NOTE: unlike 'Sequencing' (LOINC LA26398-0), the standard LOINC/SNOMED CT answer lists referenced by this IG do not currently include a dedicated coded answer for 'digital PCR' — captured here as free text pending a suitable coded term (e.g. a local or SNOMED CT extension) being agreed with your terminology team.</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 83005-9}">Variant category</span></p><p><b>value</b>: <span title="Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/IGeneVariantCategory SEQV}">Sequence Variant</span></p></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 48004-6}">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title="Codes:{http://varnomen.hgvs.org NM_005228.5:c.2369C>T}">NM_005228.5:c.2369C>T</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48019-4}">DNA change type</span></p><p><b>value</b>: <span title="Codes:{http://www.sequenceontology.org SO:1000002}">substitution</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48002-0}">Genomic source class [Type]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA6684-0}">Somatic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81258-6}">Sample variant allelic frequency [NFr]</span></p><p><b>value</b>: 0.42 %<span style="background: LightGoldenRodYellow"> (Details: UCUM code% = '%')</span></p></blockquote></div>
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