Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - 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 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of and changes regularly. See the Directory of published versions

Example Observation: RepeatExpansion

Generated Narrative: Observation

ResourceObservation "RepeatExpansion"

Profile: Variant

status: final

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: Patient/ExamplePatient

effective: 2023-06-01

performer: Organization/ExampleLab "Some lab"

value: Present (LOINC#LA9633-4)


code: Gene studied ID (LOINC#48018-6)

value: PABPN1 (HUGO Gene Nomenclature Committee Genes#HGNC:8565)


code: Cytogenetic (chromosome) location (LOINC#48001-2)

value: chr14 ()


code: Transcript reference sequence [ID] (LOINC#51958-7)

value: NM_004643.4 (Gene Reference Sequence Collection#NM_004643.4)


code: DNA change (c.HGVS) (LOINC#48004-6)

value: NM_004643.3:c.3GGC[14] (Human Genome Variation Society nomenclature#NM_004643.3:c.3GGC[14])


code: Genomic allele start-end (LOINC#81254-5)

value: 3-?


code: Discrete genetic variant (LOINC#81252-9)

value: NM_004643.3(PABPN1):c.3GGC[11] (p.Ala11_Gly12insAlaAlaAlaAla) (ClinVar Variant ID#503634)


Repeat Motif Order: 1

code: Repeat Expansion Motif (To Be Determined Codes#repeat-motif)

value: GGC


Repeat Motif Order: 1

code: Number of Repeat Expansions (To Be Determined Codes#repeat-number)

value: 11