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 Procedure: genomicstudy-trio2

Generated Narrative: Procedure

Resource Procedure "genomicstudy-trio2"

Profile: Genomic Study

Genomic Study Analysis Extension: Procedure/genomicstudyanalysis-trio2

Genomic Study Referrer Extension: Practitioner/practitioner02 " DOEL"

identifier: id: urn:uuid:1111-1111-1111-1113 (use: TEMP)

status: completed

category: Laboratory (Observation Category Codes#laboratory)

code: Trio Analysis ()

subject: Patient/denovoChild " DENOVO"

performed: 2023-10-01

asserter: Practitioner/practitioner02 " DOEL"

note: De novo mutation study of the patient. The Prenatal Trio Whole Exome Sequencing (Prenatal Trio WES) test is ordered by a physician and must be accompanied with a consent form and detailed clinical information. In general, the test is used when prenatal imaging detects an anomaly that strongly suggests that there is an underlying genetic etiology. Prenatal Trio WES is often considered only after fetal chromosome microarray analysis has been non-diagnostic.