Connexin 30-994

Test info

  
Connexin 30
  
994
  
LAB994
  
MSO
  
CX30
DFNA3B
DFNB1B
Gap junction protein, beta-6, 30KDa
GJB6
GJB6-D13S1830
342kb Deletion
  
  • To identify a second mution in patients who carry a single CX26 mutation
  • To determine the genetic basis for hearing loss in an affected individual
  • Idividuals at risk due to family history who wish prenatal diagnosis

Specimen

  
EDTA whole blood
  
  
5.0 mL
  
0.7 mL
  

Lavender (EDTA), 4mL tube(s)

  

Refrigerated (preferred) - 7 days

Ambient - 24 hours

Frozen - NO

Performance

  
GeneDx via Mayo Clinic Laboratories (157/MML ZW168): R-NX
  
Varies
  
5 weeks
  

Mutation specific multiplex polymerase chain reaction (PCR) for the common 34kb deletion

Clinical and Interpretive info

  

Not detected

Billing

  
81254
81479
  
Yes
  

Tracking

  
08/31/2011
  
11/08/2018