Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

Example Observation: obs1-interact-smn1-smn2

Generated Narrative: Observation obs1-interact-smn1-smn2

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: A Newborn

effective: 2019-04-01

performer: Organization some lab

value: Present

method: PCR

component

code: Gene studied [ID]

value: SMN1

component

code: DNA change type

value: copy_number_variation

component

code: Genomic source class [Type]

value: Germline

component

code: Genomic structural variant copy number

value: 0 1 (Details: UCUM code1 = '1')

component

code: Genomic reference sequence [ID]

value: NC_000005.10

component

code: Structural variant inner start and end

value: 70924941-70966375