Autoimmune Polyglandular Syndrome Type 1 (APS1/APECED): AIRE (Full Gene Sequencing)

CPT: 81406
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Test Details

Test Includes

This test covers all coding nucleotides of gene AIRE, plus at least two and typically 20 flanking intronic nucleotides upstream and downstream of each coding exon, covering the conserved donor and acceptor splice sites, as well as typically 20 flanking nucleotides in the 5′ and 3′ UTR.

Use

Confirm a clinical diagnosis of APS1/APECED; detect carriers; allow early diagnosis in family members

Limitations

This method does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; or deep intronic variants. It may be affected by allele-dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.

Results of this test are for investigational purposes only. The performance characteristics of this assay have been determined by LabCorp. The result should not be used as a diagnostic procedure without confirmation of the diagnosis by another medically established diagnostic product or procedure.

Methodology

DNA sequencing

Reference Interval

Normal equals reference sequence or variants that are known or predicted to be benign; abnormal equals all other variants.

Additional Information

Autoimmune polyglandular syndrome type 1 (APS1), also known as autoimmune polyendocrinopathy-candidasis-ectodermal dystrophy (APECED), is a recessively inherited disease characterized by chronic mucocutaneous candidiasis (CMC), autoimmune hypoparathyroidism, and autoimmune adrenal insufficiency. CMC affects almost all patients with APS1/APECED and is typically the presenting symptom. Additional autoimmunities and immune-mediated diseases may develop throughout a patient's lifetime. Since APS1/APECED has been associated with mutations in AIRE, genetic testing can confirm a clinical diagnosis.

Specimen Requirements

Specimen

Whole blood; DNA is accepted (Call 800-345-4363 for DNA collection information.)

Volume

2 mL

Container

Lavender-top (EDTA) tube

Collection

Samples may be stored for brief periods at 4°C. Ship overnight at room temperature.

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

Container broken or leaking; container not labeled or label not legible; use of improper anticoagulant

Clinical Information

Special Instructions

In cases in which a known mutation can be documented, the physician may prefer to order test 252737.

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. See sample physician office consent form: Consent for Genetic Testing. In the case of family tests (ie, known mutations), please submit the result report of the first patient tested in the family (the index case), if not performed at a LabCorp facility. Other family members are subsequently tested for the specific mutation found in the first patient tested.

References

Lankisch TO, Jaeckel E, Strassburg CP. The autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy or autoimmune polyglandular syndrome type 1. Semin Liver Dis. 2009 Aug; 29(3):307-314.19676003

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
252532 ASP1/APECED:AIRE 57908-6 252159 Routing 57908-6

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