ACE Clinical Exome™
The ACE Clinical Exome™ Test for Disorders of Unknown Genetic EtiologyThe ACE Clinical Exome™ test is a clinical diagnostics service that is appropriate when a patient’s medical history and physical exam suggest a disorder of unknown genetic etiology.
Identifying Patients Suitable for the ACE Clinical Exome™ TestThe ACE Clinical Exome™ test is an appropriate test for individuals with a condition that is suspected to be caused by a variant(s) in a single gene, when:
- The etiology of the patient’s disorder is likely genetic but no specific genetic test is clinically available for the disorder in question;
- The genetic disorder in question demonstrates a high degree of genetic heterogeneity and it may be inefficient both in terms of time and cost to sequence all the associated genes individually; or
- The etiology of the patient’s disorder is likely genetic and the patient has had genetic testing for their disorder but this has not provided a diagnosis (Genet Med. 2012 Aug;14(8):759-61).