Congenital adrenal hyperplasia 21-hydroxylase mutation-994

Test info

  
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.

Specimen

  
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

Performance

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

Polymerase chain reaction (PCR); multiplex minisequencing fragment analysis

Clinical and Interpretive info

  

An interpretive report will be provided

Billing

  
81402
  
Result 30005-3

Tracking

  
05/31/2019
  
02/03/2021
  
05/19/2020