Genomicstudy-example-trio2 - FHIR v6.0.0-ballot1

R6 Ballot (1st Draft)

This page is part of the FHIR Specification v6.0.0-ballot1: Release 6 Ballot (1st Draft) (see Ballot Notes). The current version is 5.0.0. For a full list of available versions, see the Directory of published versions

Example GenomicStudy/example-trio2 (Narrative)

Clinical Genomics Work Group

Maturity Level: N/A

Standards Status: Informative

Compartments: Patient

This is the narrative for the resource. See also the XML, JSON or Turtle format. This example conforms to the profile GenomicStudy.

Prenatal Trio Whole Exome Sequencing testing to identify causal mutations of inherited diseases. Test order was for trio testing with three specimens i.e., proband, mother, father included. A comparator analysis-based trio report was to be generated for the proband; both parents had consented to receive reports on secondary findings.

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.