HL7.FHIR.UV.GENOMICS-REPORTING\Example - Complex Variant (HGVS)

This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

Example Bundle: Example - Complex Variant (HGVS)

Bundle compound-heterozygote of type transaction

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

Request:

POST Observation

Resource Observation:

Generated Narrative
Texts
-
*
category: Laboratory
code: Genetic variant assessment
value: Present
Components
- Code Value[x]
* DNA change (c.HGVS) NM_022787.3:c.769G>A

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

Request:

POST Observation

Resource Observation:

Generated Narrative
Texts
-
*
category: Laboratory
code: Genetic variant assessment
value: Present
Components
- Code Value[x]
* DNA change (c.HGVS) NM_022787.3:c.53A>G

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

Request:

POST Observation

Resource Observation:

Generated Narrative
Texts
-
*
category: Laboratory
code: Genetic variant assessment
value: Present
hasMember:
NM_022787.3:c.53A>G. Generated Summary: type: transaction
NM_022787.3:c.769G>A. Generated Summary: type: transaction
Components
- Code Value[x]
* Complex Variant Type Compound heterozygous