Whole Exome Sequencing - TRIO (Proband)

CPT 81415; 81416(x2)

Test Details


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.

Special Instructions

Samples must be accompanied by both a consent form and clinical questionnaire and/or supporting clinical documents or they will not be processed.


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

Related Documents

For more information, please view the literature below. These forms are required to submit for whole exome sequencing.

Clinical Questionnaire for Whole Exome/Genome Sequencing

Informed Consent: Whole Exome & Whole Genome Sequencing

Specimen Requirements

Information on collection, storage, and volume


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

Storage Instructions

Blood: ship ASAP, but stable up to 5 days post-collection at room temperature. Do not freeze. Swab: 60 day post-collection room temperature; DNA: ship at room temperature after extraction.

Causes for Rejection

Frozen blood EDTA tube; insufficient swab cell collection or incorrect oral swab device use; extracted DNA A260:A280 ratio outside of 1.8-2.0 range