Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

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-cibuild 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

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: 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