Additional Resources Included in Document

Entry 2 - fullUrl = urn:uuid:84980fe1-25f9-43a9-bd28-3401796df680

Resource Patient:

Rob LEEDS

NHS number: 9737383222

Date of birth: 1978-01-17

Sex: Male

Postcode: LS1 3EX

Entry 3 - fullUrl = urn:uuid:ad34dc51-cc4e-407c-a003-276366ef9897

Resource Specimen:

Language: en

Profile: Specimen

status: Available

type: Whole blood specimen

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

receivedTime: 2026-07-06 00:00:00+0000

Entry 4 - fullUrl = urn:uuid:8f29ff05-48f2-4f1a-a8be-7022dda2b74a

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 5 - fullUrl = urn:uuid:b3bdaa63-3016-4115-97a4-e89f6f9731e0

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)

encounter: Encounter: identifier = Account number; status = finished; class = observation encounter (ActCode#OBSENC)

requester: Leeds Teaching Hospitals NHS Trust (Identifier: ODS Organisation Code/RR8)

specimen: Specimen: status = available; type = Whole blood specimen; receivedTime = 2026-07-06 00:00:00+0000

Entry 6 - fullUrl = urn:uuid:223a5b16-7751-44a3-a890-ac1d6085ade5

Resource Organization:

Language: en

identifier: ODS Organisation Code/699X0

name: NHS North West Genomics

Entry 7 - fullUrl = urn:uuid:4b8a115b-cd0a-487b-ac8e-5b9e4f4f78d4

Resource Binary:

Language: en

contentType: application/pdf

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Resource DocumentReference:

Language: en

identifier: Filler Identifier/T26-59X2

status: Current

type: Genetic report

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

context

Encounter: identifier = Account number; status = finished; class = observation encounter (ActCode#OBSENC)

date: 2026-07-14 15:59:16+0000

custodian: Identifier: ODS Organisation Code/699X0

content

Attachments

-	ContentType	Url
*	application/pdf	Binary: application/pdf (845 bytes base64)

Entry 9 - fullUrl = urn:uuid:2032aa8f-abea-4f1e-8bc3-8db8cffca53a

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: ODS Organisation Code/699X0)
Identifier	Filler Identifier/T26-59X2
Presented Form	application/pdf @ urn:uuid:4b8a115b-cd0a-487b-ac8e-5b9e4f4f78d4

Report Details

Code	Value	Flags
Variables that apply to the overall study		Final
Genetic variant assessment	Present	Final
Genetic variant assessment	Present	Final
Genetic variant assessment	Present	Final
Genetic variant assessment	Present	Final

Coded Conclusions:

• FAILURE

Entry 10 - fullUrl = urn:uuid:23b67e47-926e-4382-957d-74cd2d715c57

Resource Observation:

Language: en

Profile: Genomic Study Panel

identifier: Filler Identifier/T26-59X2

status: Final

category: Laboratory, Genetics

code: Variables that apply to the overall study

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

effective: 2026-07-14 15:59:16+0000

component

code: Genetic disease assessed [ID]

value: Non-Small Cell Lung Cancer

component

code: Discrete variation analysis overall interpretation

value: FAILURE

Entry 11 - fullUrl = urn:uuid:f866eb21-c93b-4ea6-8e79-780149b39c6e

Resource Observation:

Language: en

Profiles: Variant, Observation

identifier: Filler Identifier/T26-59X2-1

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 12 - fullUrl = urn:uuid:2728faff-ad7c-40af-9f8d-475946d01157

Resource Observation:

Language: en

Profiles: Variant, Observation

identifier: Filler Identifier/T26-59X2-2

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 13 - fullUrl = urn:uuid:faf18f06-de32-49e1-8fb1-a8e87df23a51

Resource Observation:

Language: en

Profiles: Variant, Observation

identifier: Filler Identifier/T26-59X2-3

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 14 - fullUrl = urn:uuid:7f70a970-2deb-47c6-9b4d-a252bda6bdd6

Resource Observation:

Language: en

Profiles: Variant, Observation

identifier: Filler Identifier/T26-59X2-4

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