| Test code: | 816 |
| Type of disorder: | Adrenal |
| Disease(s) tested for: | Primary Adrenal Insufficiency |
| Genes Included: | AIRE, NR0B1, ABCD1, |
| Tests included: | ABCD1 (Adrenoleukodystrophy) DNA Sequencing Test Autoimmune Polyglandular Syndrome (AIRE) Evaluation NR0B1 (Adrenal Hypoplasia Congenita) DNA Sequencing Test |
| 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, NR0B1, and ABCD1 genes Typical Presentation: In infants: hyperpigmentation of the skin and mucosal membranes, failure to thrive, vomiting, hypoglycemia In male children: hyperpigmentation of the skin and mucosal membranes, weakness, fatigue, orthostatic hypotension, anorexia, weight loss, nausea Indications for testing: Primary adrenal insufficiency in boys Family history of X-linked adrenoleukodystrophy |
| 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.
| CPT: | 81404(1), 81405(1), 81406(1) |
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 |
Home