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Whole Exome Sequencing - DUO (Proband)

CPT: 81415; 81416
Updated on 03/24/2020

Special Instructions

This assay is not currently available in New York state.

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


Expected Turnaround Time

2 - 4 weeks



Specimen Requirements


Specimen

Whole blood


Volume

4 mL


Container

Lavender-top (EDTA) tube


Storage Instructions

Ship ASAP, but stable up to 5 days post-collection at room temperature. Do not freeze.


Causes for Rejection

Frozen blood EDTA tube


Test Details


Use

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. DUO testing consists of a proband or patient sample, and one biological parent or family member in the case that both parents are not available for testing.


Limitations

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


Methodology

Whole Exome Sequencing


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