Test Catalog

Test ID: CYPZ    
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) in individuals with a personal or family history of 21-hydroxylase deficiency, or 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.

 

In prenatal cases of ambiguous genitalia detected by ultrasound, particularly when the fetus is confirmed XX female by chromosome analysis.

 

This test ID should also be used for known/familial variant analysis for CYP21A2. Due to the complexity of the CYP21A2 locus, site specific testing for known/familial variants is not offered for this gene.

Genetics Test Information Provides information that may help with selection of the correct genetic 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 for carrier screening and diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia (CAH).

Highlights

This test aids in carrier screening and diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia (CAH).

 

Full gene sequencing and multiplex ligation-dependent probe amplification are used to detect the common pathogenic CYP21A2 variants, CYP21A2 full gene deletions, and rare CYP21A2 variants.

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
MATCCMaternal Cell Contamination, BYesNo
CULFBFibroblast Culture for Genetic TestYesNo
CULAFAmniotic Fluid Culture/Genetic TestYesNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.

Special Instructions Library of PDFs including pertinent information and forms related to the test

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

Polymerase Chain Reaction (PCR) Amplification Followed by DNA Sequence Analysis and Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)

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

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

CYP21A2 Gene, Full Gene Analysis

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

21 Hydroxylase
CAH
Congenital adrenal hyperplasia
CYP21A2
Soft-CYPZ