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Whole Exome Sequencing - TRIO (Proband)

TEST: 620022
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CPT: 81415; 81416(x2)
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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.

Expected Turnaround Time

2 - 4 weeks

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

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

    Specimen

    Whole blood, oral swab, extracted DNA

    Volume

    4 mL, 1 swab, or 200 ng of DNA

    Container

    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.

    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

    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

    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

    For Providers

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    CPT Statement/Profile Statement

    The LOINC® codes are copyright © 1994-2021, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf