Autoimmune polyendocrinopathy syndrome type I (APS1), also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal-recessive disorder clinically characterized by three major clinical symptoms: Addison's disease,hypoparathyroidism , and chronic mucocutaneous candidiasis. APS1 has been mapped to a defect in the autoimmune regulator (AIRE) gene. AIRE (autoimmune regulator) is an important mediator of central tolerance. AIRE upregulates the transcription of certain organ-specific self-antigens in medullary thymic epithelial cells, and has a role in the negative selection of organ-specific thymocytes. Sequence analysis of the entire AIRE gene associated with Autoimmune polyendocrinopathy syndrome type I is available on a clinical basis at the Medical Genetics Laboratories at Baylor College of Medicine.

Reasons for Referral:

• Confirmation of clinical diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
• Analysis of at-risk family members for identified mutations. Population carrier screening not offered.
• Prenatal diagnosis (Both known mutations only).

Testing Methodology:

Full Sequencing: A PCR-based assay is used to amplify all 14 exons of the AIRE gene. Direct sequencing of amplification products is performed in both the forward and reverse directions using automated fluorescence dideoxy sequencing methods.

Sensitivity:

Clinical: Approximately 80%
Analytical: > 98%

Specimen Requirements:

Blood for DNA: EDTA (purple-top) tubes: Adult/Child: Minimum 6-14 cc
Requisition form must accompany the specimen. Prior to any genetic testing, we recommend genetic counseling and we request that the subject sign our consent statement and submit it with the sample. To receive forms, additional information or specimen collection kits, please contact the laboratory. Please call laboratory for specific requirements for prenatal testing.

Turnaround Time:

Index: 4 weeks
Known Familial Mutation: 3 weeks

CPT Codes and Prices:

Index: 83904X32, 83912, 83909x32, 83898x18, 83894, 83891
Known Familial Mutation: 83904x2, 83912, 83909x2, 83898, 83891, 83894

References:

1. Saugier-Veber P, Drouot N, Wolf LM, Kuhn JM, Frebourg T, Lefebvre H. (2001) Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Eur. J. Endocrinol. 144: 347-351.

Shipping Information

Forms:

 >> Gene Sequencing Requisition
 >> Prenatal Requisition