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Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome
APECED
Autoimmune Polyglandular Syndrome
AIRE (Autoimmune Regulator Gene)
APECED is (usually) inherited as an autosomal recessive disorder and is diagnosed in patients who have 2 of the triad of adrenal insufficiency (Addison disease), hypoparathyroidism, and chronic mucocutaneous candidiasis. Some allelic variants, in particular the Iranian-Jewish polyglandular syndrome, are recognized with only parathyroid involvement. Polyendocrinopathy can include diabetes, mellitus, hypergonadotropic hypogonadism, and autoimmune thyroid disease. Other autoimmune manifestations can include hepatitis, malabsorption, alopecia, vitiligo, and pernicious anemia. Typically candidiasis appears in early childhood, followed by hypo-parathyroidism and then Addison disease, but presentation and severity can vary. GeneDx offers mutation analysis of the AIRE gene in APECED. Using genomic DNA obtained from buccal (cheek) swabs or blood (5cc in EDTA), the first tier analysis consists of bi-directional sequencing of 5 exons (exons 2,3,6,8,10). It has been estimated that 90% of patients in most ethnic groups will have an identifiable mutation in the Tier 1 study. Tier 2 testing (the remainder of the coding sequence of the gene) is available for patients who test negative on the first tier.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
autoimmune polyendocrinopathy, APECED, APACED, polyglandular, parathyroid, Addison, Addison disease, AIRE, Jewish, hypogonadism, immune dysfunction, candida, candidiasis, anemia, thyroid, adrenal insufficiency
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