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

Secondary ID A test code used for billing and in test definitions created prior to November 2011

89081

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

Conditional

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

Third-tier confirmatory testing of positive congenital adrenal hyperplasia (CAH) newborn screens

 

An adjunct to measurement of basal and adrenocorticotropic hormone -1-24-stimulated 17-hydroxyprogesterone, androstenedione, and other adrenal steroid levels in the diagnosis of atypical or nonclassical cases of CAH

 

Carrier detection of CYP21A2 mutations and genetic counseling

 

An adjunct to measurement of amniotic fluid 17-hydroxyprogesterone and androstenedione measurements in the antenatal diagnosis of 21-hydroxylase deficiency

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
CYPGQCYP21A2 Gene SequencingNoYes

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

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

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

CYP21A2 Full Gene Analysis