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
Profile: Genomic Observation
identifier: a151b1ed-5aef-4c36-af50-987cfbd5bad4
status: Final
category: Genetics
code: DNA region of interest panel
subject: Theon SHEFFIELD
effective: 2026-07-13 10:37:26+0000
note:
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: Gene studied [ID]
value: EGFR
component
code: Transcript reference sequence [ID]
value: EGFR transcript NM_005228.5