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: genotype-hla-a-glstring-r4

Generated Narrative

Resource "genotype-hla-a-glstring-r4"

Profile: Genotype

basedOn: : Sequence-based typing of HLA-A for sample-id=123456789

status: final

category: Laboratory (Observation Category Codes#laboratory)

code: Genotype display name (LOINC#84413-4; LOINC#57290-9 "HLA-A [Type] by High resolution")

effective: 2018-07-26

performer: : aTypingLab, Inc

value: hla#3.31.0#HLA-A*03:01:01:01+HLA-A*30:01:01 (glstring.org[1.0]#hla#3.31.0#HLA-A*03:01:01:01+HLA-A*30:01:01)

method: PACBIO Sequel ()

specimen: : buccal swab: 123456789

derivedFrom:

  • : HLA-A Allele: HLA-A*03:01:01:01
  • : HLA-A Allele: HLA-A*30:01:01

Components

-CodeValue[x]
*Gene studied [ID] (LOINC#48018-6)HLA-A (geneId#HGNC:4931)