5 Alpha Reductase T2 Del/Dupl

₦ 914,445.00

Test Name: 5‑Alpha Reductase Type 2 Gene Deletion/Duplication Analysis

Description: Detects deletions or duplications in the SRD5A2 gene, which encodes the enzyme converting testosterone to dihydrotestosterone (DHT). Mutations disrupt male sexual differentiation in genetic males.

Clinical Use: Confirms diagnosis of 5‑alpha reductase deficiency in individuals with ambiguous genitalia or undervirilization.

Method: Genetic testing via MLPA or copy‑number variant analysis (NGS or multiplex ligation‑dependent probe amplification).