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Test Catalog
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Autoimmune Polyglandular Syndrome (AIRE) Evaluation |
#812 |
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| Type of Disorder: |
Parathyroid |
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| Typical Presentation: |
Chronic mucocutaneous candidiasis, hypoparathyroidism, primary adrenal insufficiency |
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| 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 |
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| Test Details |
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| Test Code: |
812 |
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| Profiles that contain this test: |
Primary Adrenal Insufficiency Evaluation
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
N/A |
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| Technical Information |
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| Utility: |
Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of AIRE |
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| Methodology: |
Polymerase Chain Reaction (PCR), DNA sequencing of entire protein coding region of gene |
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| Reference Value: |
No mutation detected |
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| CPT Code(s): |
83891(1), 83898(14), 83904(14), 83909(1), 83912(1) |
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| Patents: |
N/A |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10ml (pediatric minimum: 2 ml) |
| Collection Tube: |
Yellow or lavender top |
| Stability: |
Hemolysis may compromise DNA recovery and integrity after 48 hrs |
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| Storage Conditions: |
For short periods (until shipped) at 4oC |
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| Shipping Conditions: |
Overnight at room temperature (specimen arrival must be less than 24 hrs after collection); ship Monday through Thursday only |
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| Test Turnaround: |
14-21 days |
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