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

Test Catalog

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

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

Ambiguous genitalia detected on prenatal ultrasound, particularly when fetus is confirmed XX female by chromosome analysis


Pregnancies at risk for 21-hydroxylase deficient congenital adrenal hyperplasia based on family history

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 for the 21-hydroxylase gene (CYP21A2) on prenatal specimens.

Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)

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

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

If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added per laboratory protocol and charged separately.


If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added per laboratory protocol and charged separately.


For any prenatal specimen that is received, maternal cell contamination testing will be added per laboratory protocol and charged separately.

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,Prenatal

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

21 Hydroxylase
Congenital adrenal hyperplasia