Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - 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 3.0.1-SNAPSHOT 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-sequence-phase-relation-CYP2C19

Generated Narrative: Bundle bundle-sequence-phase-relation-CYP2C19

Bundle bundle-sequence-phase-relation-CYP2C19 of type transaction

Entry 1 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe60

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca8252

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

value: Present

component

code: Human reference sequence assembly version

value: GRCh37

component

code: Genomic reference sequence ID

value: NC_000010.10

component

code: Allelic state

value: heterozygous

component

code: Ref nucleotide

value: C

component

code: Alt allele

value: A

component

code: Genomic coord system

value: 1-based character counting

component

code: Genomic allele start-end

value: 96527334-?

Request:

POST Observation

Entry 2 - fullUrl = urn:uuid:20ac0aeb-6bd4-4e92-a891-d44a807bfe01

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca82e4

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

value: Present

component

code: Human reference sequence assembly version

value: GRCh37

component

code: Genomic reference sequence ID

value: NC_000010.10

component

code: Allelic state

value: heterozygous

component

code: Ref nucleotide

value: C

component

code: Alt allele

value: G

component

code: Genomic coord system

value: 1-based character counting

component

code: Genomic allele start-end

value: 96527722-?

Request:

POST Observation

Entry 3 - fullUrl = urn:uuid:20ac0aeb-6bd4-4e92-a891-d44a807bfe02

Resource Observation:

Generated Narrative: Observation sid-5c7e9e1ca8a29

status: Final

category: Laboratory, Genetics

code: Allelic phase

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

value: Cis

derivedFrom:

Request:

POST Observation

Entry 4 - fullUrl = urn:uuid:20ac0aeb-6bd4-4e92-a891-d44a807bfe03

Resource DiagnosticReport:

Generated Narrative: DiagnosticReport sequence-phase-relation-CYP2C19

Genetic analysis report (Genetics)

Report Details

CodeValue

Request:

POST DiagnosticReport

Entry 5 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

Resource Organization:

Generated Narrative: Organization performingLab

name: aTypingLab Inc

alias: aTL

Contacts

-TelecomAddress
*ph: 1-800-555-1234(Work)123 Main St, Sometown, ND 99999(work)

Request:

POST Organization

Entry 6 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

Resource Patient:

Generated Narrative: Patient patient

John Storm(official) Male, DoB: 1986-12-31

Request:

POST Patient