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Congenital Adrenal Hyperplasia (CAH) Evaluation	#879

Test Details

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 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