bundle-CG-IG-HLA-FullBundle-01 - Genomics Reporting Implementation Guide v4.0.0-ballot

Genomics Reporting Implementation Guide
4.0.0-ballot - STU 4 ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-ballot built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

Example Bundle: bundle-CG-IG-HLA-FullBundle-01

Bundle bundle-CG-IG-HLA-FullBundle-01 of type transaction

Entry 1 - fullUrl = urn:uuid:13f34265-335c-4853-bc38-0815315edafa

Resource Patient:

John Storm(official) Male, DoB: 1986-12-31 ( Donor Registration Number (use: usual, period: 2012-11-10 --> (ongoing)))

Request:

POST Patient

Entry 2 - fullUrl = urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340

Resource Specimen:

identifier: http://example.org/123
accessionIdentifier: http://example.org/456
type: Venous blood specimen
subject: John Storm

Request:

POST Specimen

Entry 3 - fullUrl = urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950

Resource Organization:

name: aTypingLab Inc
alias: aTL
Contacts
- Telecom Address
* ph: 1-800-555-1234(Work) 123 Main St, Sometown, ND 99999(work)

Request:

POST Organization

Entry 4 - fullUrl = urn:uuid:00ef18ad-ed04-4b2c-81ee-b69bb243f0d5

Resource Organization:

name: aDonorRegistry
alias: ADR
Contacts
- Telecom Address
* ph: 1-800-555-6789(Work) 456 Main St, Anytown ND, 00000(work)

Request:

POST Organization

Entry 5 - fullUrl = urn:uuid:99309303-045e-4cf4-90d7-250d7a7476ea

Resource ServiceRequest:

status: Completed
intent: Order
Codes
- Concept
* HLA-A+B+C (class I) [Type]
subject: John Storm
authoredOn: 2016-11-15
requester: aDonorRegistry
performer: aTypingLab, Inc
Reasons
- Concept
* tissue typing for donor registry

Request:

POST ServiceRequest

Entry 6 - fullUrl = urn:uuid:b7765bbf-df40-486a-9f2f-404309643de6

Resource Observation:

Profile: Haplotype
status: Final
category: Laboratory, Genetics
code: Haplotype name
subject: John Storm
effective: 2016-12-15
performer: aTypingLab, Inc
value: HLA-A*01:01:01G
method: NGS based Class I HLA-A, -B, -C genotyping
specimen: buccal swab from John Storm
Components
- Code Value[x]
* Gene studied [ID] HLA-A

Request:

POST Observation

Entry 7 - fullUrl = urn:uuid:d98d92a7-0e86-4ae5-b036-b7e1bba6ec32

Resource Observation:

Profile: Haplotype
status: Final
category: Laboratory, Genetics
code: Haplotype name
subject: John Storm
effective: 2016-12-15
performer: aTypingLab, Inc
value: HLA-A*01:02
method: NGS based Class I HLA-A, -B, -C genotyping
specimen: buccal swab from John Storm
Components
- Code Value[x]
* Gene studied [ID] HLA-A

Request:

POST Observation

Entry 8 - fullUrl = urn:uuid:49a86246-4004-42eb-9bdc-f542f93f9228

Resource Observation:

Profile: Genotype
basedOn: Class I HLA genotyping for John Storm
status: Final
category: Laboratory, Genetics
code: Genotype display name
subject: John Storm
effective: 2016-12-15
performer: aTypingLab, Inc
value: hla#3.23.0#HLA-A:01:01G+HLA-A*01:02
method: NGS based Class I HLA-A, -B, -C genotyping
specimen: buccal swab from John Storm
derivedFrom:
HLA-A*01:01:01G, exons 2 and 3
HLA-A*01:02, exons 2 and 3
Components
- Code Value[x]
* Gene studied [ID] HLA-A

Request:

POST Observation

Entry 9 - fullUrl = urn:uuid:e2092243-2970-49d2-a90f-b90d1d49715a

Resource Observation:

Profile: Haplotype
status: Final
category: Laboratory, Genetics
code: Haplotype name
subject: John Storm
effective: 2016-12-15
performer: aTypingLab, Inc
value: HLA-B*15:01:01G
method: NGS based Class I HLA-A, -B, -C genotyping
specimen: buccal swab from John Storm
Components
- Code Value[x]
* Gene studied [ID] HLA-B

Request:

POST Observation

Entry 10 - fullUrl = urn:uuid:792be53e-d4fb-4887-a367-815ef6c706e5

Resource Observation:

Profile: Haplotype
status: Final
category: Laboratory, Genetics
code: Haplotype name
subject: John Storm
effective: 2016-12-15
performer: aTypingLab, Inc
value: HLA-B*57:01:01G
method: NGS based Class I HLA-A, -B, -C genotyping
specimen: buccal swab from John Storm
Components
- Code Value[x]
* Gene studied [ID] HLA-B

Request:

POST Observation

Entry 11 - fullUrl = urn:uuid:60613a43-c4cb-4502-b3e2-cf9215feaa70

Resource Observation:

Profile: Genotype
basedOn: Class I HLA genotyping for John Storm
status: Final
category: Laboratory, Genetics
code: Genotype display name
subject: John Storm
effective: 2016-12-15
performer: aTypingLab, Inc
value: hla#3.23.0#HLA-B*15:01:01G+HLA-B*57:01:01G
method: NGS based Class I HLA-A, -B, -C genotyping
specimen: buccal swab from John Storm
derivedFrom:
HLA-B*15:01:01G, exons 2 and 3
HLA-B*57:01:01G, exons 2 and 3
Components
- Code Value[x]
* Gene studied [ID] HLA-B

Request:

POST Observation

Entry 12 - fullUrl = urn:uuid:709c5315-9403-4867-9d82-0b953836665f

Resource Observation:

Profile: Haplotype
status: Final
category: Laboratory, Genetics
code: Haplotype name
subject: John Storm
effective: 2016-12-15
performer: aTypingLab, Inc
value: HLA-C*01:02:01G
method: NGS based Class I HLA-A, -B, -C genotyping
specimen: buccal swab from John Storm
Components
- Code Value[x]
* Gene studied [ID] HLA-C

Request:

POST Observation

Entry 13 - fullUrl = urn:uuid:8b2aa21c-1426-4717-8ab0-a84d83df7d47

Resource Observation:

Profile: Haplotype
status: Final
category: Laboratory, Genetics
code: Haplotype name
subject: John Storm
effective: 2016-12-15
performer: aTypingLab, Inc
value: HLA-C*01:02:01G
method: NGS based Class I HLA-A, -B, -C genotyping
specimen: buccal swab from John Storm
Components
- Code Value[x]
* Gene studied [ID] HLA-C

Request:

POST Observation

Entry 14 - fullUrl = urn:uuid:0e0a780e-4486-4cd0-bfae-7243c579f208

Resource Observation:

Profile: Genotype
basedOn: Class I HLA genotyping for John Storm
status: Final
category: Laboratory, Genetics
code: Genotype display name
subject: John Storm
effective: 2016-12-15
performer: aTypingLab, Inc
value: hla#3.23.0#HLA-C*01:02:01G+HLA-C*03:04:01G
method: NGS based Class I HLA-A, -B, -C genotyping
specimen: buccal swab from John Storm
derivedFrom:
HLA-C*03:04:01G, exons 2 and 3
HLA-C*01:02:01G, exons 2 and 3
Components
- Code Value[x]
* Gene studied [ID] HLA-C

Request:

POST Observation

Entry 15 - fullUrl = urn:uuid:b0a4b18e-94e7-4b1b-8031-c7ae4bdd8db9

Resource DiagnosticReport:

Profile: Genomic Report
Genetic analysis report (Genetics)
Subject John Storm(official) Male, DoB: 1986-12-31 ( Donor Registration Number (use: usual, period: 2012-11-10 --> (ongoing)))
When For 2016-12-15
Reported 2016-12-15 14:15:30-0600
Performer aTypingLab Inc
Report Details
Code Value Flags
Genotype display name hla#3.23.0#HLA-A:01:01G+HLA-A*01:02 Final
Genotype display name hla#3.23.0#HLA-B*15:01:01G+HLA-B*57:01:01G Final
Genotype display name hla#3.23.0#HLA-C*01:02:01G+HLA-C*03:04:01G Final

Request:

POST DiagnosticReport

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IG © 2025+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#4.0.0-ballot based on FHIR 6.0.0-ballot3. Generated 2025-10-16
Links: Table of Contents | QA Report | Version History | | Propose a change