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
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