NHS North West Genomics
2.2.0 - ci-build
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
Language: en
Profile: Bundle - FHIR Messaging
Bundle ctdna9737383222-testresults of type message
Entry 1 - fullUrl = urn:uuid:445c5d5b-c51d-4e4e-a6a9-b6280c24a1e3
Resource MessageHeader:
Language: en
event: event: R01 (ORU/ACK - Unsolicited transmission of an observation message)
Destinations
Receiver Identifier: ODS Organisation Code/RR8 sender: Identifier: ODS Organisation Code/699X0
Sources
Software NW GLH
Entry 2 - fullUrl = urn:uuid:5ee15fbb-5332-41df-a6dc-a8d1be8f9fcb
Resource Patient:
Language: en
Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)
Other Id: Medical record number/RXR0817610 Contact Detail LS1 3EX
Entry 3 - fullUrl = urn:uuid:6f531758-c13f-4107-b15a-9d3f4b83a6e5
Resource Encounter:
Language: en
identifier: Account number/SP26-01847
status: completed
class: observation encounter
subject: Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)
Entry 4 - fullUrl = urn:uuid:3e221516-d8e9-46c7-9756-d3f948dfe607
Resource Organization:
Language: en
identifier: ODS Organisation Code/699X0
name: NHS North West Genomics
Entry 5 - fullUrl = urn:uuid:66446ddf-e567-4f0a-9964-c46ae4f3153e
Resource ServiceRequest:
Language: en
identifier: Placer Identifier/1234-RR8, Filler Identifier/T26-59X2
status: Completed
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: Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)
requester: Leeds Teaching Hospitals NHS Trust (Identifier: ODS Organisation Code/RR8)
Entry 6 - fullUrl = urn:uuid:2327bef8-dff6-4511-970b-0230095a2fef
Resource Observation:
Language: en
Profile: Variant
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
subject: Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)
effective: 2026-07-14 15:59:16+0000
performer: Organization NHS North West Genomics
value: Present
method: Sequencing
component
code: Gene studied [ID]
value: BRCA1
component
code: Genomic source class [Type]
value: Germline
component
code: Genomic reference sequence [ID]
value: NC_000017.10
component
code: Genomic coordinate system [Type]
value: 1-based character counting
component
code: Genomic ref allele [ID]
value: TCT
component
code: Genomic alt allele [ID]
value: T
component
code: DNA change type
value: deletion
component
code: Transcript reference sequence [ID]
value: NM_007294.3
component
code: DNA change (c.HGVS)
value: NM_007294.3(BRCA1):c.68_69del
component
code: Amino acid change (pHGVS)
value: p.(Glu23ValfsTer17)
component
code: Genomic DNA change (gHGVS)
value: g.41276047_41276048del
component
code: Genetic variation clinical significance [Imp]
value: Pathogenic
component
code: Origin of germline genetic variant [Type]
value: Maternal
component
code: Genomic allele start-end
value: 41276046-?
component
code: Sample variant allelic frequency
value: 0.33 decimal
component
code: Allelic state
value: heterozygous
Entry 7 - fullUrl = urn:uuid:5e1692e3-7e9a-4bc2-b429-17c2e1b7cbec
Resource Observation:
Language: en
Profile: Variant
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
subject: Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)
effective: 2026-07-14 15:59:16+0000
performer: Organization NHS North West Genomics
value: Present
method: Sequencing
component
code: Gene studied [ID]
value: FBN1
component
code: Genomic source class [Type]
value: Germline
component
code: Genomic reference sequence [ID]
value: NC_000015.9
component
code: Genomic coordinate system [Type]
value: 1-based character counting
component
code: Genomic ref allele [ID]
value: C
component
code: Genomic alt allele [ID]
value: <DEL>
component
code: DNA change type
value: copy_number_variation
component
code: Transcript reference sequence [ID]
value: NM_000138.4
component
code: DNA change (c.HGVS)
value: NM_000138.4(FBN1):exon13_to_exon15del
component
code: Genomic DNA change (gHGVS)
value: g.48797222_48802366del
component
code: Genetic variation clinical significance [Imp]
value: Pathogenic
component
code: Origin of germline genetic variant [Type]
value: Maternal
component
code: Structural variant inner start and end
value: 48797221-48802366
component
code: Sample variant allelic frequency
value: 0.33 decimal
component
code: Genomic structural variant copy number
value: 1 1 (Details: UCUM code1 = '1')
Entry 8 - fullUrl = urn:uuid:5862205e-6077-40b2-8e63-c0a6b9f55984
Resource Observation:
Language: en
Profile: Variant
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
subject: Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)
effective: 2026-07-14 15:59:16+0000
performer: Organization NHS North West Genomics
value: Present
method: Sequencing
component
code: Genomic source class [Type]
value: Germline
component
code: Genomic reference sequence [ID]
value: NC_000023.10
component
code: Genomic coordinate system [Type]
value: 1-based character counting
component
code: Genomic ref allele [ID]
value: T
component
code: Genomic alt allele [ID]
value: <DEL>
component
code: DNA change type
value: copy_number_variation
component
code: Genomic DNA change (gHGVS)
value: g.100652797_153792676del
component
code: Cytogenetic (chromosome) location
value: Xq22.1-q28
component
code: Genetic variation clinical significance [Imp]
value: Pathogenic
component
code: Origin of germline genetic variant [Type]
value: Maternal
component
code: Structural variant inner start and end
value: 100652796-153792676
component
code: Sample variant allelic frequency
value: 0.33 decimal
component
code: Genomic structural variant copy number
value: 1 1 (Details: UCUM code1 = '1')
Entry 9 - fullUrl = urn:uuid:135cec6d-0120-48eb-ada1-375160163885
Resource Observation:
Language: en
Profile: Variant
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
subject: Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)
effective: 2026-07-14 15:59:16+0000
performer: Organization NHS North West Genomics
value: Present
method: Sequencing
component
code: Genomic reference sequence [ID]
value: NC_000023.10
component
code: Genomic coordinate system [Type]
value: 1-based character counting
component
code: Genomic ref allele [ID]
value: T
component
code: Genomic alt allele [ID]
value: <DEL>
component
code: DNA change type
value: deletion
component
code: Genomic DNA change (gHGVS)
value: g.100652797_153792676del
component
code: Genetic variation clinical significance [Imp]
value: Pathogenic
component
code: Structural variant inner start and end
value: 100652796-153792676
component
code: Sample variant allelic frequency
value: 0.33 decimal
Entry 10 - fullUrl = urn:uuid:f3244cdf-95d8-4124-a026-46417a4fcf19
Resource DiagnosticReport:
Language: en
Profiles: Diagnostic Report, Genomic Report
PACKAGE: M4.14 - 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 (Genetics)
Subject Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier) Relevant Time 2026-07-14 15:59:16+0000 Reported 2026-07-14 15:59:16+0000 Performer NHS North West Genomics Identifier Filler Identifier/T26-59X2 Report Details
Code Value Flags Genetic variant assessment Present Final Genetic variant assessment Present Final Genetic variant assessment Present Final Genetic variant assessment Present Final