NHS North West Genomics
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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

Example DiagnosticReport: Diagnostic Report ctDNA Example

version: 1.0

Profile: Diagnostic Report

Genetic report (Genetics)

SubjectTheon SHEFFIELD (official) Male, DoB: 1986-09-12 ( Patient internal identifier)
Relevant Time2025-10-14 15:59:16+0000
Performer NW GMSA (Identifier: ODS Organisation Code/699X0)
Identifier https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier/T26-59XG
Presented Form application/pdf @ urn:uuid:d6eeedd1-92d3-45b9-bf33-6401e804425f icon

Report Details

CodeValueFlagsNoteRelevant Time
Genetic variant assessmentPresentFinal

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.

2026-07-13 10:37:26+0000
DNA region of interest panelFinal

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.

2026-07-13 10:37:26+0000

Coded Conclusions:

  • TARGET DETECTED AT A LEVEL REQUIRING CLINICAL ACTION