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Whole Exome Sequencing Comparator - Additional FM

CPT: 81416

81415

81416
Updated on 05/6/2020

Special Instructions

This assay is not currently available in New York state.

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).

This assay is not currently available in New York state.

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).

This assay is not currently available in New York state.

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

2 - 4 weeks

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. 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 tube

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

    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.

    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.


    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.

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

    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

    Whole Exome Sequencing

    Whole Exome Sequencing


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