Congenital Adrenal Hyperplasia (CAH) via the CYP21A2 Gene
Use
This test is intended for individuals or fetuses with a clinical or suspected diagnosis of congenital adrenal hyperplasia (CAH), particularly due to 21-hydroxylase deficiency (21-OHD). It is also recommended for reproductive partners of individuals with a known pathogenic variant in the CYP21A2 gene and those with abnormal newborn screening results suggesting 21-OHD. Additionally, it can assist in diagnosing hypermobility Ehlers-Danlos syndromes (EDS) associated with CAH-X syndrome.
Special Instructions
Not provided.
Limitations
As this test employs Sanger Sequencing, limitations may include potential undetected variants outside of the CYP21A2 gene not covered by other comprehensive genetic panels. The accuracy of interpretation relies heavily on the completeness of provided clinical information and the inclusion of a detailed family history.
New York Approved
Methodology
Sanger
Biomarkers
CYP21A2
Gene
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided