identifier: 00c22e97-a226-4845-b17a-e24ec1f4f77a

status: Final

category: Genetics, Laboratory

code: Genetic variant assessment

subject: Theon SHEFFIELD

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

value: Present

note:

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.

method: 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.

component

code: Variant category

value: Sequence Variant

component

code: Gene studied [ID]

value: EGFR

component

code: DNA change (c.HGVS)

value: NM_005228.5:c.2369C>T

component

code: DNA change type

value: substitution

component

code: Genomic source class [Type]

value: Somatic

component

code: Sample variant allelic frequency [NFr]

value: 0.42 % (Details: UCUM code% = '%')