Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions

Example Bundle: bundle-sequence-phase-relation-CYP2C19

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

Entry 1 - Full URL = urn:uuid:20ac0aeb-6bd4-4e92-a891-d44a807bfe00

Request:

POST Observation

Resource Observation:

Generated Narrative

Resource "dv-5c7e9e1ca8252"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory)

code: Genetic variant assessment (LOINC#69548-6)

issued: Mar 5, 2019 4:04:44 PM

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (nuccore#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: A

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96527334-?

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

Request:

POST Observation

Resource Observation:

Generated Narrative

Resource "dv-5c7e9e1ca82e4"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory)

code: Genetic variant assessment (LOINC#69548-6)

issued: Mar 5, 2019 4:04:44 PM

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (nuccore#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: G

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96527722-?

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

Request:

POST Observation

Resource Observation:

Generated Narrative

Resource "sid-5c7e9e1ca8a29"

Profile: Sequence Phase Relationship

status: FINAL

category: Laboratory (Observation Category Codes#laboratory)

code: Allelic phase (LOINC#82120-7)

issued: Mar 5, 2019 4:04:44 PM

value: Cis (Sequence Phase Relationship Codes#Cis)

derivedFrom:

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

Request:

POST DiagnosticReport

Resource DiagnosticReport:

Genetic analysis report (Genetics)

Report Details

CodeValue