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Autoimmune Polyendocrinopathy Syndrome Type 1 via the AIRE Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
7569 AIRE 81406 81406,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7569AIRE81406 81406,81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Megan Piazza, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Autoimmune polyendocrinopathy syndrome type 1 (OMIM# 240300) is an autoimmune disease characterized by Addison disease (a malfunction of adrenal glands), hypoparathyroidism (a malfunction of parathyroid glands), chronic mucocutaneous candidiasis (a fungal infection that affects the skin and mucous membranes) (Nagamine et al. 1997; Finnish-German APECED Consortium 1997). Some patients may only have two of these three features while others have all of them. This multi-system disease can also affect skin, nails, gonads, eyes, the thyroid, and the digestive system. In most cases, the age of disease onset is during childhood or adolescence. The disease is also commonly termed autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Although it occurs worldwide, a much higher prevalence has been found in three populations: Finns (~1/25,000), Iranian Jews (~1/9,000) and Sardinians (1/14,500) (Björses et al. 2000).

Genetics

Autoimmune polyendocrinopathy syndrome type 1 is an autosomal recessive disorder caused by defects in the AIRE gene (Nagamine et al. 1997; Finnish-German APECED Consortium 1997). AIRE has 14 coding exons that encode an autoimmune regulator. Genetic defects of AIRE include missense, nonsense, splicing site mutations, small deletion/insertions (Human Gene Mutation Database). Large deletions involving AIRE have also been reported, but are relatively uncommon. Although AIRE defects are spread throughout the whole coding region, mutational hotspots have been observed in exons 2, 6, 8 and 10 (Björses et al. 2000). R257X and R139X account for 85% of the Finnish APECED chromosomes and 92% of the Sardinian disease alleles, respectively. The 13bp deletion (c.967_979del13) in exon 8 is also common among patients from different populations (Pearce et al. 1998; Wolff et al. 2007; Heino et al. 1999).

Clinical Sensitivity - Sequencing with CNV PG-Select

In a cohort of 112 APECED patients of diverse ethnic backgrounds worldwide (including 63 Finns), 91% of pathogenic AIRE alleles were found via DNA sequencing (Björses et al. 2000).

Testing Strategy

This test provides full coverage of all coding exons of the AIRE gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with autoimmune polyendocrinopathy syndrome type 1. Testing is also indicated for family members of patients who have known AIRE mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in AIRE.

Gene

Official Gene Symbol OMIM ID
AIRE 607358
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Polyglandular Autoimmune Syndrome, Type 1 AR, AD 240300

Related Tests

Name
Hypoparathyroidism Panel
Premature Ovarian Failure (POF) Panel

Citations

  • Björses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I, Peltonen L. 2000. Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. Am. J. Hum. Genet. 66: 378-392. PubMed ID: 10677297
  • Finnish-German APECED Consortium. 1997. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat. Genet. 17: 399-403. PubMed ID: 9398840
  • Heino M, Scott HS, Chen Q, Peterson P, Mäebpää U, Papasavvas MP, Mittaz L, Barras C, Rossier C, Chrousos GP, Stratakis CA, Nagamine K, et al. 1999. Mutation analyses of North American APS-1 patients. Hum. Mutat. 13: 69-74. PubMed ID: 9888391
  • Human Gene Mutation Database (Bio-base).
  • Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJ, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa S, et al. 1997. Positional cloning of the APECED gene. Nat. Genet. 17: 393-398. PubMed ID: 9398839
  • Pearce SH, Cheetham T, Imrie H, Vaidya B, Barnes ND, Bilous RW, Carr D, Meeran K, Shaw NJ, Smith CS, Toft AD, Williams G, et al. 1998. A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. Am. J. Hum. Genet. 63: 1675-1684. PubMed ID: 9837820
  • Wolff ASB, Erichsen MM, Meager A, Magitta NF, Myhre AG, Bollerslev J, Fougner KJ, Lima K, Knappskog PM, Husebye ES. 2007. Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. J. Clin. Endocrinol. Metab. 92: 595-603. PubMed ID: 17118990

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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