APECED

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED) 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 IranianJewish polyglandular syndrome, are recognized with only parathyroid involvement. Polyendocrinopathy can include IDDM, 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 hypoparathyroidism and then Addison disease, but presentation and severity can vary.

Tests Available

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Selection of appropriate treatment
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Carrier testing in siblings or other relatives

Ordering

TB19
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81406x1
No
Yes
  • 112 Candidiasis Includes: infection by Candida species moniliasis
  • 255.4 Corticoadrenal insufficiency
  • 252.1 Hypoparathyroidism Parathyroiditis (autoimmune), Tetany: parathyroid parathyroprival
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*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Podkrajsek KT et al., 2008, Detection of complete autoimmune regulator gene deletion and two additional novel mutations [in atypical] autoimmune polyglandular syndrome type 1; Eur J Endocrinol 159: 633
  2. Heino M. et al., 2001, APECED Mutations in the Autoimmune Regulator (AIRE) Gene; Human Mutation 18:205-211
  3. Cetani F et al, 2001, A novel mutation of the [AIRE] gene… acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis: Journal of Clin Endocr Metab 86:4747