CYPPS - Overview: 21-Hydroxylase Gene (CYP21A2), Full Gene Analysis

Test Catalog

Test ID: CYPPS    
21-Hydroxylase Gene (CYP21A2), Full Gene Analysis

Useful For Suggests clinical disorders or settings where the test may be helpful

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

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

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).

Profile Information A profile is a group of laboratory tests that are ordered and performed together under a single Mayo Test ID. Profile information lists the test performed, inclusive of the test fee, when a profile is ordered and includes reporting names and individual availability.

Test IDReporting NameAvailable SeparatelyAlways Performed
CYPMSCYP21A2 Full Gene AnalysisNoYes

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.


Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

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.)

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

CYP21A2 Full Gene Analysis

Aliases Lists additional common names for a test, as an aid in searching

Soft - CYPPS
Congenital adrenal hyperplasia
21 Hydroxylase