Congenital adrenal hyperplasia 21-hydroxylase mutation-994
Test info
CYP21
21-Hydroxylase gene mutation
Identify deficiencies in the 21-hydroxylase gene (CYP21A2), the most common cause of congenital adrenal hyperplasia (CAH)1, a potentially lethal genetic disorder caused by a defect in adrenal steroid synthesis.
Specimen
Immediately following collection, mix sample thoroughly by gently inverting 8 - 10, times to prevent clotting
Lavender (EDTA), 4mL
Yellow ACD (A or B)
Immediately following collection, mix sample thoroughly by gently inverting 8 - 10, times to prevent clotting
Yellow ACD (A or B)
Ambient (preferred) - 28 days
Performance
Polymerase chain reaction (PCR); multiplex minisequencing fragment analysis
Clinical and Interpretive info
An interpretive report will be provided
Billing
Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medical billing request form along with the sample.
- Complete and submit the form to notify us of the need for Allina Health Laboratory to bill insurance for Molecular testing performed
- All information requested is required in order for your request to be completed