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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 […]

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

AIRE Select Exons

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
AIRE
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Selection of appropriate treatment
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Carrier testing in siblings or other relatives
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
1391
Turnaround Time:
5-6 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81406x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 252.1: Hypoparathyroidism Parathyroiditis (autoimmune), Tetany: parathyroid parathyroprival
  • 112: Candidiasis Includes: infection by Candida species moniliasis
  • 255.4: Corticoadrenal insufficiency
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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] geneā€¦ acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis: Journal of Clin Endocr Metab 86:4747

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