Whole Exome Sequencing - TRIO (Proband)

Whole blood, oral swab, extracted DNA

4 mL, 1 swab, or 200 ng of DNA

Lavender-top (EDTA) tube, OCD-100 DNA Genotek device only, extracted DNA

• Room temperature: Blood: 5 days; Swab: 60 days; DNA: 30 days

• Refrigerated: Blood: 5 days; Swab: 60 days; DNA: 30 days

• Frozen: Blood: Do not freeze; Swab: 60 days; DNA: Indefinitely

Whole Exome Sequencing (WES) is a genetic test used to identify a heritable cause of a disorder. WES searches through all coding regions of all genes currently identified; thus, it has a higher chance to find the cause of a heritable disease. WES can be used if a patient has symptoms, which, after exhaustive testing, cannot be linked to a diagnosis and corrective treatment is necessary to change the prognosis. WES can also be used if, upon clinical presentation, multiple disease states may be suspected and a clinician wishes to improve his/her testing approach. Once a genetic variant has been identified, this information can then be linked back to the phenotype of the patient, which will improve the pathway to a correct diagnosis and a suitable treatment plan can be administered. TRIO testing consists of a proband or patient sample, and both biological parents. In the case both parents are not available for testing, up to two family member samples are also accepted. Trios are preferred for better diagnostic sensitivity.

This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.

Whole Exome Sequencing