GenomeX subset of genomic diagnostic implication profile.

Genomic reference lab metadata found in a report.

The person who is the subject of the genetic/genomic report.

GenomeX subset from specimen resource.

GenomeX subset of genomic therapeutic implication profile.

GenomeX subset of variant profile.

A FHIR bundle resource containing genomic data exchange-scoped FHIR profiles.

Genomic analysis summary report. The report may include one or more tests, with two distinct test types. The first type is a targeted mutation test, where a specific mutation on a specific gene is tested for. The result is either positive or negative for that mutation. The second type is a more general test for variants. This type of test returns the identity of variants found in a certain region of the genome.

Test ordering information related to the genomics report.

Patients are recommended to discuss reproductive risks with their health care provider or a genetic counselor. Patients may also wish to discuss any positive results with blood relatives, as there is an increased chance that they are also carriers.

Carrier testing should be considered for the diseases specified above for the patient's partner.

Patients are recommended to discuss reproductive risks with their health care provider or a genetic counselor. Patients may also wish to discuss any positive results with blood relatives, as there is an increased chance that they are also carriers.