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 https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

Example Observation: MultipleRepeatExpansions

Generated Narrative: Observation

ResourceObservation "MultipleRepeatExpansions"

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)

component

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

value: FMR1 (HUGO Gene Nomenclature Committee Genes#HGNC:3775)

component

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

value: chrx ()

component

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

value: NM_002024.5 (Gene Reference Sequence Collection#NM_002024.5)

component

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

value: NM_002024.5:c.-128_-69GGC[10]GGA[1]GGC[9]GGA[1]GGC[10] (Human Genome Variation Society nomenclature#NM_002024.5:c.-128_-69GGC[10]GGA[1]GGC[9]GGA[1]GGC[10])

component

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

value: 3-?

component

Repeat Motif Order: 1

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

value: GGC

component

Repeat Motif Order: 1

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

value: 10

component

Repeat Motif Order: 2

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

value: GGA

component

Repeat Motif Order: 2

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

value: 1

component

Repeat Motif Order: 3

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

value: GGC

component

Repeat Motif Order: 3

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

value: 9

component

Repeat Motif Order: 4

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

value: GGA

component

Repeat Motif Order: 4

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

value: 1

component

Repeat Motif Order: 5

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

value: GGC

component

Repeat Motif Order: 5

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

value: 10