Congenital Adrenal Hyperplasia (CAH) Panel
Use
The Congenital Adrenal Hyperplasia (CAH) Panel is intended for individuals or fetuses with a clinical or suspected diagnosis of congenital adrenal hyperplasia, individuals with abnormal newborn screening results suggesting 21-hydroxylase deficiency, and reproductive partners of individuals with a known pathogenic variant in the related genes of this panel. The test aids in identifying pathogenic variants in the genes associated with CAH, facilitating diagnosis and carrier status determination.
Special Instructions
For effective results, ensure collection instructions are followed closely. This test can be ordered as part of a prenatal testing process. Testing can be expedited with STAT options available. Note that the test was developed under CAP and CLIA regulations and is validated by PreventionGenetics LLC.
Limitations
While highly comprehensive, the test results should not be used as the sole basis for medical decisions. It is essential to correlate them with clinical symptoms and other diagnostic tools. The test may not detect all genetic alterations involved in CAH and does not evaluate all genes potentially associated with adrenal hyperplasia.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided