Whole Exome Sequencing Comparator - Additional FM

CPT: 81416
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Special Instructions

This specimen should be collected from a non-parental relative 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 non-parental relative is Whole Exome Sequencing Comparator - Additional FM [620194].

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


    Whole blood, oral swab, extracted DNA


    4 mL, 1 swab, or 200 ng of DNA


    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


    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 parental samples are unavailable and an additional family member can be used as a comparator to inform the diagnosis of the proband.


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


    Whole Exome Sequencing

    LOINC® Map

    Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
    620194 Whole Exome Seq - Add FM 620181 Preauthorization N/A
    620194 Whole Exome Seq - Add FM 620196 Result 86205-2
    620194 Whole Exome Seq - Add FM 630860 PDF 80563-0

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