| Test code: | 812 |
| Type of disorder: | Adrenal |
| Disease(s) tested for: | Autoimmune Polyglandular Syndrome |
| Genes Included: |
AIRE, |
| Profiles that contain this test: | Primary Adrenal Insufficiency Evaluation |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of AIRE
Typical Presentation: Chronic mucocutaneous candidiasis, hypoparathyroidism, primary adrenal insufficiency
Indications for testing: Presence of at least one of the three characteristic component diseases of autoimmune polyglandular syndrome type 1 (APS1) in children age ten or younger Suspicion of APS1 in individuals of any age Family history of APS1 |
| Methodology: |
Sanger Sequencing
|
| Reference Range: | No mutation detected |
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.
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
| Specimen Type: | Whole blood |
| Specimen Stability: |
Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable, |
| Specimen Requirements: |
8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum) |
| Instructions: | Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 14-28 days |
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