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
Generated Narrative: Observation
Resource Observation "HaplotypeSet-Clinical-Trial-Example-2of2"
Profile: Haplotype
status: final
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Haplotype name Bld/T (LOINC#84414-2)
subject: Patient/CGPatientExample01 " EVERYMAN"
effective: 2019-04-01
performer: Organization/ExampleOrg "some lab"
value: APOE1 (ClinVar Variant ID#441262)
specimen: Specimen/GenomicSpecimenExample02
Code | Value[x] |
Gene studied ID (LOINC#48018-6) | APOE (HUGO Gene Nomenclature Committee Genes#HGNC:613) |