Test Code: PNL061

Genes: CYP11A1, CYP11B1, CYP21A2, CYP17A1, HSD3B2, POR, STAR (7 genes)

Sample Type: 3 ml peripheral blood in EDTA (purple/pink top) tube

Method: Capture-based target enrichment and Next Generation Sequencing

Turnaround Time: 3 weeks

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 1800

Description:
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in enzymes involved in cortisol biosynthesis. The most common form is due to 21?hydroxylase deficiency (CYP21A2), but other genes including CYP11A1, CYP17A1, CYP11B1, HSD3B2, STAR, and POR can also be implicated, each leading to distinct subtypes of CAH. Clinical features vary depending on the enzyme affected, but may include ambiguous genitalia in females, virilization, and potentially life?threatening salt?wasting crises in both sexes. Severe cases can present in the first weeks of life with hyponatremia, hyperkalemia, and hypotension if not promptly recognized. Early diagnosis is critical to prevent complications, guide hormone replacement therapy, and support appropriate gender assignment and long?term management.