Release 5 R6 Ballot (1st Draft)

This page is part of the FHIR Specification (v5.0.0: R5 - STU v6.0.0-ballot1: Release 6 Ballot (1st Draft) (see Ballot Notes ). This is the The current published version in it's permanent home (it will always be available at this URL). 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.