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Whole Exome Sequencing - TRIO (Proband)

CPT: 81415; 81416(x2)
Updated on 05/6/2020

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


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

    For more information, please view the literature below.

    Clinical Questionnaire for Whole Exome/Genome Sequencing

    Informed Consent: Whole Exome & Whole Genome Sequencing

    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


    Specimen

    Whole blood, oral swab, extracted DNA

    Whole blood

    Whole blood, oral swab, extracted DNA


    Volume

    4 mL, 1 swab, or 200 ng of DNA

    4 mL

    4 mL, 1 swab, or 200 ng of DNA


    Container

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

    Lavender-top (EDTA) tube

    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.

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

    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.


    Stability Requirements

    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

    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


    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

    Frozen blood EDTA tubee

    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


    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. 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.


    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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