Test Code 2590
Autosomal Recessive Hyper IgE Syndrome via the DOCK8 Gene
DOCK8
N/A
Who is this test for? | Candidates for this test are patients showing IgE levels higher than 2000 U/ml, recurrent lung infections, and staphylococcal abscesses (Szczawinska-Poplonyk et al 2011). Other laboratory findings often include candidiasis, eczema, eosinophilia, decreased T and B cell counts, low serum IgM and variable IgG antibody responses (Zhang et al. 2009). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in DOCK8. |
Method | Sanger Sequencing |
Specimen(s) | Blood, Saliva, or Buccal Swab |
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