Congenital adrenal hyperplasia 21-hydroxylase mutation

Alphabetical Test listing

Congenital adrenal hyperplasia 21-hydroxylase mutation-994

  
Congenital adrenal hyperplasia 21-hydroxylase mutation
  
994
  
LAB994
  
MSO
  
CAH
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.

  
EDTA whole blood
  
  
3.0 mL
  
1.0 mL
  

Lavender (EDTA), 4mL

  
ACD whole blood
  

Yellow ACD (A or B)

 

  

Yellow ACD (A or B)

  

Ambient (preferred) - 28 days

  
Esoterix Endocrinology (504006) via LabCorp (500768): R-NX
  
As needed
  
14 - 15 days
  

Polymerase chain reaction (PCR); multiplex minisequencing fragment analysis

  

An interpretive report will be provided

  
81402
  
Result 30005-3
  
05/31/2019
  
02/03/2021
  
05/19/2020