Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

Example Observation: ROS1-Fusion-var

Generated Narrative: Observation

Resource Observation "ROS1-Fusion-var"

Profile: Variant

status: final

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

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

subject: Patient/somaticPatient " HAMSBURG"

effective: 2023-02-01

performer: Practitioner/pathologistPractitioner " DOLIN"

value: Present (LOINC#LA9633-4)

method: Sequencing (LOINC#LA26398-0)

component

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

value: ROS1 Fusion ()

component

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

value: ROS1 (HUGO Gene Nomenclature Committee Genes#HGNC:10261)

component

code: Genomic source class [Type] (LOINC#48002-0)

value: Somatic (LOINC#LA6684-0)