Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

Example Observation: Pgx-geno-1001

Generated Narrative: Observation

Resource Observation "Pgx-geno-1001"

Profile: Genotype

status: final

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

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

subject: Patient/CGPatientExample01 " EVERYMAN"

effective: 2019-04-01

performer: Organization/ExampleOrg "some lab"

value: CYP2C19*2/*2 (ClinVar Variant ID#638797)

specimen: Specimen/GenomicSpecimenExample01

derivedFrom:

Components

-CodeValue[x]
*Gene studied [ID] (LOINC#48018-6)CYP2C19 (HUGO Gene Nomenclature Committee Genes#HGNC:2621)