Genomics Reporting Implementation Guide
4.0.0-ballot - STU 4 ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-ballot 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

Example Observation: RepeatExpansion

Page standards status: Informative

Profile: Variant

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Anonymous Patient (no stated gender), DoB Unknown

effective: 2023-06-01

performer: Organization Some lab

value: Present

component

code: Gene studied ID

value: PABPN1

component

code: Cytogenetic (chromosome) location

value: chr14

component

code: Transcript reference sequence [ID]

value: NM_004643.4

component

code: DNA change (c.HGVS)

value: NM_004643.3:c.3GGC[14]

component

code: Genomic allele start-end

value: 3-?

component

code: Discrete genetic variant

value: NM_004643.3(PABPN1):c.3GGC[11] (p.Ala11_Gly12insAlaAlaAlaAla)

component

Repeat Motif Order: 1

code: Repeat Expansion Motif

value: GGC

component

Repeat Motif Order: 1

code: Number of Repeat Expansions

value: 11