Hyper-IgM Syndrome (HIGM): (AICDA for HIGM2) (Full Gene Sequencing)

TEST: 252425
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CPT: 81479
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Test Includes

This test covers all coding nucleotides of gene AICDA, 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 252663.

Expected Turnaround Time

18 - 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)

Hyper-IgM Syndrome Genetic Testing

    Specimen Requirements

    Specimen

    Whole blood; DNA is accepted (Call 866-647-0735 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 HIGM; detect carriers; allow early diagnosis in family members, guiding prophylactic measures

    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

    Hyper immunoglobulin M syndrome type 2 (HIGM2) is a recessively inherited immune disorder characterized by lack of IgG, IgA, and IgE in the presence of excess IgM, leading to increased susceptibility to bacterial infections. In addition, HIGM2 is associated with an increased risk of autoimmunity. Mutations in AICDA account for all of HIGM2 and about 30% of HIGM overall. Genetic testing can confirm a clinical diagnosis of HIGM2 and detect mutation carriers within affected families.

    References

    Durandy A, Revy P, Imai K, et al. Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects.Immunol Rev. 2005 Feb; 203:67-79. 15661022

    LOINC® Map

    Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
    252425 HIGM2:AICDA 41103-3 252194 Routing 41103-3

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