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NR0B1 (Adrenal Hypoplasia Congenita) DNA Sequencing Test #814
Type of Disorder: Adrenal
Typical Presentation: Symptoms include: hyperpigmentation of the skin and mucosal membranes, weakness, fatigue, orthostatic hypotension, anorexia, weight loss, nausea, vomiting, abdominal pain, salt craving, hypoglycemia
Indications for Testing: Primary adrenal insufficiency in boys
Family history of X-linked adrenal hypoplasia congenita
Disease(s) tested for: X-linked Adrenal Hypoplasia Congenita, DAX1
Test Details
Test Code: 814
Profiles that contain this test: Primary Adrenal Insufficiency Evaluation
Informed Consent Required: Yes
Medicare ABN Required: Yes
Technical Information
Utility: Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of NR0B1
Methodology: Polymerase Chain Reaction (PCR), DNA sequencing of entire protein coding region of gene
Reference Value: No mutation detected
CPT Code(s): 83891(1), 83898(6), 83904(6), 83909(1), 83912 (1)
Shipping Considerations
Preferred Specimen Requirements
Type: Whole blood
Minimum Volume: 10 mL (pediatric minimum: 2 mL)
Collection Tube: Yellow or lavender top
Stability: Hemolysis may compromise DNA recovery and integrity after 48 hrs
Storage Conditions: For short periods (until shipped) at 4°C
Shipping Conditions: Overnight at room temperature (specimen arrival must be less than 24 hrs after collection); ship Monday through Thursday only
Test Turnaround: 7-14 days
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