Second Tier LC-MS/MS Kit for Confirmation of Congenital Adrenal Hyperplasia from Dried Blood Spots
Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders that impair steroid biosynthesis and are associated with abnormal cortisol production. In around 95% of all cases this disease is caused by a deficiency in 21-hyxdroxylase. This enzyme converts 17-Hydroxyprogesterone in few biosynthetic steps into Aldosterone and Cortisol. As a consequence, CAH results in the inability to produce the above mentioned mineral and glucocorticoid which leads to insufficiency of the adrenal glands and to an overproduction of steroid hormone precursors. Finally, the result of this accumulation is an increased production of androgens in both sexes. Therefore, CAH is the most common cause of genital ambiguity in newborns and affects approximately 1 of 15,000 live births worldwide.
NeoMass CAH kit allows for the simultaneous specific determination of most clinically relevant steroids related to CAH from dried blood spot samples using LC-MS/MS. This highly sensitive and specific technology significantly reduce false-positive screening results for 17-hydroxyprogesterone.
Sample Preparation Procedure