Whole Exome Sequencing Comparator - Father

TEST: 620197
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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

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 Information

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

    For Providers

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