Athena Diagnostics - Testing that Makes a Difference
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Congenital Adrenal Hyperplasia (CAH) Evaluation #879
Type of Disorder: Adrenal
Typical Presentation: Classic form can be salt wasting 75% or simple virilizing 25%; Non-classic form shows mild adrenal androgen excess only
Indications for Testing: Ambiguous genitalia in infants; premature adrenarche; Hirsutism and/or oligomenorrhea in women; family history of congenital adrenal hyperplasia
Disease(s) tested for: Congenital Adrenal Hyperplasia
Test Details
Test Code: 879
Profile includes: CYP11B1 (CAH) DNA Sequencing Test, CYP21A2 (CAH) Evaluation
Informed Consent Required: Yes
Medicare ABN Required: No
Technical Information
Methodology: Polymerase Chain Reaction (PCR), DNA sequencing of entire protein coding region of CYP21A2 and CYP11B1. Screening for CYP21A2 30kb-deletion-specific PCR product.
CPT Code(s): 83891(1), 83898(19), 83904(17), 83912(1)
Shipping Considerations
Preferred Specimen Requirements
Type: Whole blood
Minimum Volume: 10 mL (pediatric minimum 2 mL)
Collection Tube: Lavender top (EDTA) or yellow top (ACD-A)
Stability: Hemolysis may compromise DNA recovery and integrity after 48 hours
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: 2 - 8 weeks
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