Primary Adrenal Insufficiency Evaluation

Test Code

Test Details

Test code: 816
Type of disorder: Adrenal
Disease(s) tested for: Primary Adrenal Insufficiency
Genes Included: AIRE, NR0B1, ABCD1
Tests included:
Informed Consent Required: This test requires physician attestation that patient consent has been received

Technical Information

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

CPT Coding

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)

Specimen Requirements

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

Shipping Considerations

Transport Temperature: Room temperature
Set-up/Analytic Time: 14-28 days

Additional Resources

Letters of Medical Necessity

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