Wiskott-Aldrich Syndrome (WAS): WAS (Full Gene Sequencing)

TEST: 252459
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CPT: 81406
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Test Includes

This test covers all coding nucleotides of gene WAS, plus at least two and typically 20 flanking intronic nucleotides upstream and downstream of each coding exon, covering the conserved donor and acceptor splice sites, as well as typically 20 flanking nucleotides in the 5′ and 3′ UTR.

Special Instructions

In cases in which a known mutation can be documented, the physician may prefer to order test 252690.

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. See sample physician office consent form: Consent for Genetic Testing. In the case of family tests (ie, known mutations), please submit the result report of the first patient tested in the family (the index case), if not performed at a LabCorp facility. Other family members are subsequently tested for the specific mutation found in the first patient tested.

Expected Turnaround Time

28 - 35 days

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.

Consent for Genetic Testing (Consentimiento para análisis genético)

    Specimen Requirements

    Specimen

    Whole blood; DNA is accepted (Call 800-345-4363 for DNA collection information.)

    Volume

    2 mL

    Container

    Lavender-top (EDTA) tube

    Collection

    Samples may be stored for brief periods at 4°C. Ship overnight at room temperature.

    Storage Instructions

    Maintain specimen at room temperature.

    Causes for Rejection

    Container broken or leaking; container not labeled or label not legible; improper anticoagulant

    Test Details

    Use

    Confirm a clinical diagnosis of WAS; detect carriers; allow early diagnosis in family members

    Limitations

    This method does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; or deep intronic variants. It may be affected by allele-dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.

    Results of this test are for investigational purposes only. The performance characteristics of this assay have been determined by LabCorp. The result should not be used as a diagnostic procedure without confirmation of the diagnosis by another medically established diagnostic product or procedure.

    Methodology

    DNA sequencing

    Reference Interval

    Normal equals reference sequence or variants that are known or predicted to be benign; abnormal equals all other variants.

    Additional Information

    Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immune disorder characterized by eczema, thrombocytopenia, leading to a moderate to severe bleeding disorder, and cellular and humoral immunodeficiency, allowing recurrent infections by bacterial, viral, and fungal pathogens. Autoimmunity and malignancies are also common. Mutation in the gene WAS are the only known cause of WAS. Genetic testing can confirm a clinical diagnosis of WAS and detect mutation carriers within affected families.

    References

    Notarangelo LD, Miao CH, Ochs HD. Wiskott-Aldrich syndrome. Curr Opin Hematol. 2008 Jan; 15(1):30-36.18043243

    LOINC® Map

    Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
    252459 Wiskott-Aldrich Syn.:WAS 57759-3 252178 Routing 57759-3

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