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21-Hydroxylase, CYP21B single mutation
Call to order - 01707 707 560.
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Description
The congenital adrenal hyperplasia (CAH), or 21 Hydroxylase deficit is an inherited disease that affects both genders. It is caused by a congenital enzyme defect, which impair the synthesis of two important hormones: cortisol and aldosterone, produced in the adrenal glands. Cortisol, the main hormone of the glucocorticoid family, increases the degradation of fats and proteins transforming them into sugars and glycogen storages. Aldosterone is the main hormone in the mineralocorticoid family. It acts on the kidney, where it regulates sodium absorption and potassium secretion. Mineralocorticoids and glucocorticoids are produced in the adrenal glands and released into the blood, where they act on different organs and tissues.
Additional information
Samples | EDTA, TB |
---|---|
Method of testing | Sanger |
Turnaround Time (TAT) | 10 days |
Number of Genes | 2 |
Genes / Chromosomes / SNPs | CYP21A2 (CYP21, CYP21B) single mutation |