Test Code: CAHMLP

Genes: CYP21A2 (1 genes)

Sample Type: 30 ml peripheral blood in EDTA (purple/pink top) tube, refrigerated; 2-5 ml of bone marrow aspirate in EDTA (purple/pink top) tube, refrigerated

Method: MLPA and Sanger 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: 900

Description:
Congenital adrenal hyperplasia (CAH) is an inherited condition where the adrenal glands cannot make enough cortisol due to enzyme defects. The most common type is caused by 21-hydroxylase deficiency. Babies with CAH may show signs such as ambiguous genitalia in girls or life-threatening salt-loss crises in both sexes. These crises can lead to dehydration, low blood pressure, and dangerous electrolyte imbalances in the first weeks of life if not treated. Early testing and diagnosis are very important to prevent complications and ensure proper care.