Athena Diagnostics - Testing that Makes a Difference
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CYP21A2 (CAH) Evaluation #880
Type of Disorder: Adrenal
Typical Presentation: Classic form with severs enzyme deficiency and prenatal onset 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: 880
Profiles that contain this test: Congenital Adrenal Hyperplasia (CAH) Evaluation
Informed Consent Required: Yes
Medicare ABN Required: Yes
Technical Information
Utility: Detects variations the coding sequence of the CYP21A2 gene, as well as the common 30kb deletion in CYP21A2.
Methodology: Polymerase Chain Reaction (PCR), DNA sequencing of entire protein coding region of the gene; for CYP21A2: screening for 30kb-deletion-specific PCR product.
Reference Value: No mutation detected
CPT Code(s): 83891(1), 83898(11), 83904(9), 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)
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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