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 in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

Example Observation: HaplotypeSet-Clinical-Trial-Example-1of2

Generated Narrative

Resource "HaplotypeSet-Clinical-Trial-Example-1of2"

Profile: Haplotype

status: final

category: Laboratory (Observation Category Codes#laboratory)

code: Haplotype name (LOINC#84414-2)

subject: Patient/CGPatientExample01 " EVERYMAN"

effective: 2018

value: APOE1 (clinvar#441262)

specimen: Specimen/GenomicSpecimenExample02

Components

-CodeValue[x]
*Gene studied [ID] (LOINC#48018-6)APOE (geneId#HGNC:613)