|Values are valid only on day of printing.|
Carrier screening and diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia (CAH) as follow-up to positive CAH newborn screens and/or measurement of basal and adrenocorticotropic hormone- 1-24 stimulated 17-hydroxyprogesterone, androstenedione, and other adrenal steroid levels
May be used to identify CYP21A2 mutations in individuals with a suspected diagnosis of 21-hydroxylase deficient CAH when a common mutation panel is negative or only identifies 1 mutation
This test includes Sanger gene sequencing and multiplex ligation-dependent probe amplification to evaluate the CYP21A2 gene on whole blood specimens for carrier screening and diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia (CAH).
|Test ID||Reporting Name||Available Separately||Always Performed|
|CYPMS||CYP21A2 Full Gene Analysis||No||Yes|
Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing and Deletion Detection by Multiplex Ligation-Dependent Probe Amplification (MLPA)
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)