Additional Resources Included in Document

Entry 2 - fullUrl = urn:uuid:2160525b-0168-4f40-8ebf-9b053052a62c

Resource Patient:

Language: en

Profile: Patient

Theon SHEFFIELD (official) Male, DoB: 1986-09-12 ( Patient internal identifier)

---

Active:	true
Other Id:	National Health Plan Identifier/9737873858 (use: official, )
Contact Detail	SPITAL STREET SHEFFIELD S3 9LB (home)
Links:	General Practitioner: Sheffield Medical Centre (Identifier: ODS Organisation Code/C88622)

Entry 3 - fullUrl = urn:uuid:6e26d6b3-490e-4348-9d6c-37281567d6ec

Resource ServiceRequest:

version: 1.0; Language: en

Profile: ServiceRequest

identifier: Filler Identifier/T26-59XG

requisition: Placer Group Number/R26-15AY

status: Active

intent: Order

category: Molecular genetics procedure

code: No display for ServiceRequest.code (concept: Non-Small Cell Lung Cancer, Multi-target ctDNA combined Multi-target NGS panel - small variant (EGFR, ALK, BRAF, KRAS, MET exon 14 skipping and copy number variations) and structural variant (ROS1, RET, ALK, NTRK1, NTRK2, NTRK3, MET exon 14 skipping))

subject: Theon SHEFFIELD

requester: PractitionerRole: specialty = General Surgery

performer: Identifier: ODS Organisation Code/699X0

specimen: Specimen: identifier = Filler Identifier; status = available; type = Blood specimen; receivedTime = 2026-06-30

Entry 4 - fullUrl = urn:uuid:4446ab81-35ef-49cb-b2fe-1d6f1a0dcc02

Resource PractitionerRole:

Language: en

Profile: PractitionerRole

practitioner: Sheffield Lung Doctor (Identifier: GMC Number/C9999998)

organization: Identifier: ODS Organisation Code/RHQ

specialty: General Surgery

Entry 5 - fullUrl = urn:uuid:b930b4c4-327a-4728-8bb9-f90061914cc5

Resource Specimen:

version: 1.0; Language: en

Profile: Specimen

identifier: Filler Identifier/S26-1K1Q

status: Available

type: Blood specimen

subject: Theon SHEFFIELD

receivedTime: 2026-06-30

Collections

-	Collected[x]
*	2026-06-29

Entry 6 - fullUrl = urn:uuid:0a6ad8ec-b069-4a65-8c65-c7569d8413e3

Resource DiagnosticReport:

version: 1.0; Language: en

Profile: Diagnostic Report

Genetic report (Genetics)

Subject	Theon SHEFFIELD (official) Male, DoB: 1986-09-12 ( Patient internal identifier)
Relevant Time	2025-10-14 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

Report Details

Code	Value	Flags	Note	Relevant Time
Genetic variant assessment	Present	Final	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 panel		Final	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

Entry 7 - fullUrl = urn:uuid:00c22e97-a226-4845-b17a-e24ec1f4f77a

Resource Observation:

Language: en

Profile: Variant (Observation)

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% = '%')

Entry 8 - fullUrl = urn:uuid:a151b1ed-5aef-4c36-af50-987cfbd5bad4

Resource Observation:

Language: en

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

Entry 9 - fullUrl = urn:uuid:13028359-6a38-4dff-8978-55a57dbdfb56

Resource DocumentReference:

Language: en

Profile: DocumentReference

identifier: http://www.example.org/documentreference/identifier/94bf65ba-cd6c-4601-b339-6d547f424646

status: Current

type: Genetic report

subject: Theon SHEFFIELD

date: 2025-10-14 15:59:16+0000

custodian: NW GMSA (Identifier: ODS Organisation Code/699X0)

content

Attachments

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Resource Binary:

Language: en

Profile: Binary

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