Bio-Rad offers a quantitative microplate assay for the determination of 17α-hydroxyprogesterone (17-OHP) in neonatal dried blood spot samples, intended for newborn screening for Congenital Adrenal Hyperplasia (CAH). CAH is an inborn error of metabolism that results from an inherited recessive defect in any of the five enzymatic steps required to synthesize cortisol from cholesterol. Complete or partial deficiency of 21-hydroxylase leads to elevated levels of 17-OHP in 90 to 95 percent of all CAH cases.
CAH exists in several forms: Classical [Salt Wasting (SW), Simple Virilizing (SV)], and Non-Classical (NC). If left untreated, the SW form can result in life-threatening adrenal crises within the first weeks of life and precocious growth in both sexes. Non-classical CAH may result in persistent slight elevations of 17-OHP from birth with clinical manifestations occurring later in life.
The Bio-Rad Quantase Neonatal CAH assay is free of background interferences common with fluorometric assay methods. It is easily automated, and can be performed with any microplate reader. Each kit includes all necessary reagents.