Genomics Reporting Implementation Guide
3.0.0 - STU3 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 3.0.0 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: MultipleRepeatExpansions

Generated Narrative: Observation MultipleRepeatExpansions

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: FMR1

component

code: Cytogenetic (chromosome) location

value: chrx

component

code: Transcript reference sequence [ID]

value: NM_002024.5

component

code: DNA change (c.HGVS)

value: NM_002024.5:c.-128_-69GGC[10]GGA[1]GGC[9]GGA[1]GGC[10]

component

code: Genomic allele start-end

value: 3-?

component

Repeat Motif Order: 1

code: Repeat Expansion Motif

value: GGC

component

Repeat Motif Order: 1

code: Number of Repeat Expansions

value: 10

component

Repeat Motif Order: 2

code: Repeat Expansion Motif

value: GGA

component

Repeat Motif Order: 2

code: Number of Repeat Expansions

value: 1

component

Repeat Motif Order: 3

code: Repeat Expansion Motif

value: GGC

component

Repeat Motif Order: 3

code: Number of Repeat Expansions

value: 9

component

Repeat Motif Order: 4

code: Repeat Expansion Motif

value: GGA

component

Repeat Motif Order: 4

code: Number of Repeat Expansions

value: 1

component

Repeat Motif Order: 5

code: Repeat Expansion Motif

value: GGC

component

Repeat Motif Order: 5

code: Number of Repeat Expansions

value: 10