Connexin 30 (GJB6) 2 deletions-994
This test is orderable only by a genetic counselor.
Test info
GJB6 deletions assay
Connexin 30 mutation assay
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.
Specimen
Immediately following collection, mix sample thoroughly by gently inverting 8 - 10, times to prevent clotting
Lavender (EDTA), 4mL
Yellow ACD (A or B)
Yellow ACD (A or B)
Refrigerated (preferred) - 1 month
Ambient - 1 week
Frozen - NO
Performance
Polymerase chain reaction (PCR)/Capillary electrophoresis
Clinical and Interpretive info
An interpretive report will be provided
Billing
Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medical billing request form along with the sample.
- Complete and submit the form to notify us of the need for Allina Health Laboratory to bill insurance for Molecular testing performed
- All information requested is required in order for your request to be completed