NHS North West Genomics
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NHS North West Genomics - Local Development build (v2.2.5) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

Example Procedure: Genomic Study Analysis - ctDNA EGFR dPCR

Genomic Study Analysis Title: EGFR ctDNA digital PCR

Genomic Study Analysis Method Type: Targeted variant analysis

Genomic Study Analysis Specimen: Specimen: identifier = Filler Identifier: S26-1K1Q; status = available; type = Blood specimen; receivedTime = 2026-06-30

Genomic Study Analysis Regions

  • description: EGFR (transcript NM_005228.5) exon 20 T790M hotspot position only, plus in a multiplexed panel a small number of other named hotspots such as exon 19 deletions / L858R. Not the full coding sequence of EGFR.
  • studied: EGFR

identifier: e1e2150d-ba34-4247-83a2-5bc9ab93ba22

status: Completed

category: Laboratory

subject: Theon SHEFFIELD

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

Performers

-Actor
*NW GMSA (Identifier: ODS Organisation Code/699X0)

note:

ILLUSTRATIVE: unlike NGS, a negative dPCR result only rules out variants at the specific positions named in the regions studied; 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.