Whole Exome Sequencing Comparator - Father

CPT: 81416
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Special Instructions

This specimen should be collected from the father of the patient for whom Whole Exome Sequencing - DUO (Proband) [620023] or Whole Exome Sequencing - TRIO (Proband) [620022] is being ordered. The test to be ordered for the father is Whole Exome Sequencing Comparator - Father [620197].


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


    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 hertiable cause of disorder. This test should be used in cases of WES Duo or Trio sequencing where the father can be used as a comparator to inform the diagnosis of the proband.


    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


    LOINC® Map

    Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
    620197 Whole Exome Seq - Father 620181 Preauthorization n/a
    620197 Whole Exome Seq - Father 620198 Result 86205-2
    620197 Whole Exome Seq - Father 630861 PDF 80563-0

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