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Connexin 30-994

Test info

Test name:

Connexin 30

Test number:

994

Excellian order number:

LAB994

Abbreviation:

MSO

Alternate names:

CX30
DFNA3B
DFNB1B
Gap junction protein, beta-6, 30KDa
GJB6
GJB6-D13S1830
342kb Deletion

Useful for:

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

Specimen type:

EDTA whole blood

Collection container:

Lavender (EDTA), 4mL

Volume:

5.0 mL

Minimum volume:

0.7 mL

Collection instructions:

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

Transport container:

Lavender (EDTA), 4mL tube

Transport and stability:

Refrigerated (preferred) - 7 days

Ambient - 24 hours

Frozen - NO

Performance

Performing lab:

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

Days set up:

Varies

TAT:

5 weeks

Method:

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

Clinical and Interpretive info

Reference ranges:

Not detected

Billing

CPT codes:

81254
81479

Subject to medical necessity (Y/N):

Yes

LCD/NCD:

Medical necessity

Tracking

Date created:

08/31/2011

Revised date:

11/08/2018