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Connexin 30 (GJB6) 2 deletions-994

This test is orderable only by a genetic counselor.

Test info

Test name:

Connexin 30 (GJB6) 2 deletions

Test number:

994

Excellian order number:

LAB994

Abbreviation:

MSO

Alternate names:

Hearing loss, nonsyndromic

GJB6 deletions assay
Connexin 30 mutation assay

Tests included:

Mutations tested:
Connexin 30 GJB6 Deletion 309
Connexin 30 GJB6 Deletion 232

Useful for:

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.

Limitations:

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.

Specimen

Specimen type:

EDTA whole blood

Collection container:

Lavender (EDTA), 4mL

Volume:

3.0 mL

Minimum volume:

1.0 mL

Collection instructions:

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

Transport container:

Lavender (EDTA), 4mL

Alternate specimen type:

ACD whole blood (A or B)

Alternate collection container:

Yellow ACD (A or B)

Alternate transport container:

Yellow ACD (A or B)

Required forms/information:

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.

Transport and stability:

Refrigerated (preferred) - 1 month

Ambient - 1 week

Frozen - NO

Performance

Performing lab:

ARUP (2001956) via LabCorp (009985): R-NX

Days set up:

Varies

TAT:

10 days

Method:

Polymerase chain reaction (PCR)/Capillary electrophoresis

Clinical and Interpretive info

Reference ranges:

An interpretive report will be provided

Billing

CPT codes:

81254

Subject to medical necessity (Y/N):

Yes

Other billing information:

Medical necessity

Tracking

Date created:

04/26/2022

Revised date:

05/15/2024

Review date:

12/18/2023