Gene-Based Test for Adrenal Hyperplasia

A new gene-based test detects genetic mutations associated with congenital adrenal hyperplasia (CAH), a condition that causes females to accumulate male sex hormones.

CAH is most often caused by deficiency of a specific enzyme, 21-hydroxylase. It is a relatively common disease that can affect normal growth and development and may influence how the body deals with the stress of illness or injury. A mild form of CAH that occurs more frequently is a possible cause of infertility in women.

The new test detects 90-95% of genetic mutations associated with CAH. The test can be of use to those with the disease and to families with a history of the disease. Obstetricians can use the test during a patient's pregnancy to guide the use of therapy to prevent malformations in affected female fetuses. Currently, CAH testing is a part of a neonatal blood screen in the majority of U.S. states to identify infants with the severe form of the disease.

The test was developed by Quest Diagnostics (Teterboro, NJ, USA) at its Nichols Institute esoteric testing laboratory in San Juan Capistrano (CA, USA). The new test uses a proprietary gene-amplification procedure through which the 21-hydroxylase gene, a defective form of the gene on the same chromosome, and products of recombination between those two genes are prepared for analysis by DNA minisequencing.

"This new gene-based test will be available immediately to doctors and their patients across the country,” said Delbert A. Fisher, M.D., vice president, science and innovation. "The Nichols Institute has a 30-year history of providing state-of-the-art testing and consultative services for endocrine disorders.”




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