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-compound-heterozygote

Bundle bundle-compound-heterozygote of type transaction

Entry 1 - Full URL = urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d

Request:

POST Observation

Resource Observation:

Generated Narrative

Resource "Inline-Instance-for-compound-heterozygote-1"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory)

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

value: Present (LOINC#LA9633-4)

component

code: DNA change (c.HGVS) (LOINC#48004-6)

value: NM_022787.3:c.769G>A (Human Genome Variation Society nomenclature#NM_022787.3:c.769G>A)

component

code: Allelic state (LOINC#53034-5)

value: Heterozygous (LOINC#LA6706-1)

Entry 2 - Full URL = urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e

Request:

POST Observation

Resource Observation:

Generated Narrative

Resource "Inline-Instance-for-compound-heterozygote-2"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory)

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

value: Present (LOINC#LA9633-4)

component

code: DNA change (c.HGVS) (LOINC#48004-6)

value: NM_022787.3:c.53A>G (Human Genome Variation Society nomenclature#NM_022787.3:c.53A>G)

component

code: Allelic state (LOINC#53034-5)

value: Heterozygous (LOINC#LA6706-1)

Entry 3 - Full URL = urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12a

Request:

POST Observation

Resource Observation:

Generated Narrative

Resource "Inline-Instance-for-compound-heterozygote-3"

Profile: Genotype

status: FINAL

category: Laboratory (Observation Category Codes#laboratory)

code: Genotype display name (LOINC#84413-4)

value: NM_022787.3(NMNAT1):c.[53A>G];[769G>A] AND Cone-rod dystrophy (clinvar#RCV000664188.1)

hasMember: