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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.
Bi-directional sequencing of the coding regions and splice sites of exons 1-14 of the AIRE gene is offered in two tiers or all at once. If sequencing identifies a mutation on only one allele, targeted array CGH analysis with exon-level resolution (ExonArrayDx) will be performed to evaluate for a deletion or duplication of one or more exons of this gene. For more details see the linked Information Sheet below.
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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