Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

Example Observation: RepeatExpansion

Generated Narrative: Observation RepeatExpansion

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