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 Observation: Region Studied - ctDNA

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