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Hyper-IgM Syndrome (HIGM): (AICDA for HIGM2) (Full Gene Sequencing)
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.
Confirm a clinical diagnosis of HIGM; detect carriers; allow early diagnosis in family members, guiding prophylactic measures
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.
Normal equals reference sequence or variants that are known or predicted to be benign; abnormal equals all other variants.
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.
Whole blood; DNA is accepted (Call 866-647-0735 for DNA collection information.)
Lavender-top (EDTA) tube
Samples may be stored for brief periods at 4°C. Ship overnight at room temperature.
Maintain specimen at room temperature.
Causes for Rejection
Container broken or leaking; container not labeled or label not legible; improper anticoagulant
In cases in which a known mutation can be documented, the physician may prefer to order test 252663.
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