North West Genomic Medicine Service Alliance
0.0.7 - ci-build United Kingdom flag

North West Genomic Medicine Service Alliance, published by NHS North West GMSA. This guide is not an authorized publication; it is the continuous build for version 0.0.7 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/nw-gmsa/R4/ and changes regularly. See the Directory of published versions

Example Observation: Genomic Report BRCA1 Variant Example

identifier: Uniform Resource Identifier (URI)/urn:uuid:dfa620b9-0b78-4c57-8f20-7772131b917d

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Octavia CHISLETT

value: Present

method: Sequencing

component

code: Genomic reference sequence [ID]

value: BRCA1

component

code: Allelic state

value: Heterozygous

component

code: DNA change

value: BRCA1:c.3143delG p.(Gly1048ValfsTer14)