Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

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

Example Procedure: genomicstudy-trio2

Generated Narrative: Procedure

ResourceProcedure "genomicstudy-trio2"

Profile: Genomic Study

Genomic Study Analysis Extension: Procedure/genomicstudyanalysis-trio2

Genomic Study Referrer Extension: Practitioner/practitioner02 " DOEL"

identifier: http://www.somesystemabc.net/identifiers/genomicstudies/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.