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Generated Narrative: MessageHeader

event: event: R01 (ORU/ACK - Unsolicited transmission of an observation message)

Destinations

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*https://fhir.nwgenomics.nhs.uk/Endpoint/EPRIdentifier: ODS Organisation Code/RR8

sender: Identifier: ODS Organisation Code/699X0

Sources

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*NW GLHhttps://fhir.nwgenomics.nhs.uk/Endpoint/HIVE

focus: Diagnostic Report for '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' for '->Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)'

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Generated Narrative: Patient

Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)

Other Id:Medical record number/RXR0817610
Contact DetailLS1 3EX
" }, "identifier" : [{ "type" : { "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/v2-0203", "code" : "NH" }] }, "system" : "https://fhir.nhs.uk/Id/nhs-number", "value" : "9737383222" }, { "type" : { "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/v2-0203", "code" : "MR" }] }, "value" : "RXR0817610", "assigner" : { "identifier" : { "system" : "https://fhir.nhs.uk/Id/ods-organization-code", "value" : "RR8" } } }], "name" : [{ "family" : "LEEDS", "given" : ["Rob"] }], "gender" : "male", "birthDate" : "1978-01-17", "address" : [{ "postalCode" : "LS1 3EX" }] } }, { "fullUrl" : "urn:uuid:6f531758-c13f-4107-b15a-9d3f4b83a6e5", "resource" : { "resourceType" : "Encounter", "language" : "en", "text" : { "status" : "generated", "div" : "

Generated Narrative: Encounter

identifier: Account number/SP26-01847

status: Finished

class: ActCode: OBSENC (observation encounter)

subject: Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)

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Generated Narrative: Organization

identifier: ODS Organisation Code/699X0

name: NHS North West Genomics

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Generated Narrative: ServiceRequest

identifier: Placer Identifier/1234-RR8, Filler Identifier/T26-59X2

status: Completed

intent: Order

category: Molecular genetics procedure

code: 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)

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reasonCode: Non-Small Cell Lung Cancer

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Generated Narrative: Observation ctdna9737383222-seqv1

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

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Generated Narrative: Observation ctdna9737383222-icnv1

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')

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Generated Narrative: Observation ctdna9737383222-mcnv1

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

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Generated Narrative: Observation ctdna9737383222-sv1

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

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Generated Narrative: DiagnosticReport

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)

SubjectRob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)
Relevant Time2026-07-14 15:59:16+0000
Reported2026-07-14 15:59:16+0000
Performer NHS North West Genomics
Identifier Filler Identifier/T26-59X2

Report Details

CodeValueFlags
Genetic variant assessmentPresentFinal
Genetic variant assessmentPresentFinal
Genetic variant assessmentPresentFinal
Genetic variant assessmentPresentFinal
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