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
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.
