Connexin 30 (GJB6) 2 deletions

Alphabetical Test listing

Connexin 30 (GJB6) 2 deletions-994

This test is orderable only by a genetic counselor.

 

  
Connexin 30 (GJB6) 2 deletions
  
994
  
LAB994
  
MSO
  
Hearing loss, nonsyndromic

GJB6 deletions assay
Connexin 30 mutation assay
  
Mutations tested:
Connexin 30 GJB6 Deletion 309
Connexin 30 GJB6 Deletion 232
  
  • Diagnostic test for individuals with nonsyndromic hearing loss and 1 identified GJB2 variant.
  • Carrier screening if family history of GJB6 deletion or for reproductive partner of individual with GJB6 or GJB2 variants.
  

GJB6 mutations other than the two targeted will not be identified. The etiology of hearing loss due to other genetic or environmental causes will not be determined. Diagnostic errors can occur due to rare sequence variations.

This test is orderable only by a genetic counselor.

  
EDTA whole blood
  
  
3.0 mL
  
1.0 mL
  

Immediately following collection, mix sample thoroughly by gently inverting 8 - 10, times to prevent clotting

  

Lavender (EDTA), 4mL 

  
ACD whole blood (A or B)
  

Yellow ACD (A or B)

 

  

Yellow ACD (A or B)

  

Molecular Medicare billing request

Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form to notify us of the need for Allina Health Laboratory to bill insurance.

  

Refrigerated (preferred) - 1 month

Ambient - 1 week

Frozen - NO

  
ARUP (2001956) via LabCorp (009985): R-NX
  
Varies
  
10 days
  

Polymerase chain reaction (PCR)/Capillary electrophoresis

  

An interpretive report will be provided

  
81254
  
Yes
  
  
04/26/2022
  
05/15/2024
  
12/18/2023