Hearing Loss, Nonsyndromic, Connexin 30 (GJB6) 2 Deletions
Also known as: GJB6 DEL
Use
This test is used as a diagnostic tool for individuals with nonsyndromic hearing loss and one identified GJB2 variant. It is also suitable for carrier screening when there is a family history of GJB6 deletion or for reproductive partners of individuals with GJB6 or GJB2 variants. The presence of large deletions in the GJB6 gene can lead to moderate-to-profound nonsyndromic hearing loss (NSHL). These deletions disrupt cis-regulatory elements for GJB2, impacting the expression of GJB2 and leading to compound heterozygosity that results in NSHL.
Special Instructions
Not provided.
Limitations
The test identifies two specific GJB6 deletions (309kb and 232kb). It does not detect other GJB6 variants, the etiology of hearing loss from other genetic or environmental causes, or sequence variants in other genes. Genetic errors may occur due to rare sequence variations. Interpretation of results can be impacted if the patient has undergone allogeneic stem cell transplantation. The test has not been cleared or approved by the FDA but is performed in a CLIA-certified lab.
New York Approved
Methodology
PCR-based (Multiplex PCR)
Biomarkers
No genes
GeneNo genes
Gene
LOINC Codes
- 34504-1 - GJB6 gene Mut Anl Bld/T
- 31208-2 - Specimen source
- 50398-7 - Narrative diagnostic report-Imp
- 41100-9 - GJB6 gene Mut Anl Bld/T
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B)
Storage Instructions
Refrigerated. Also acceptable: Room temperature
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 1 week |
| Refrigerated | 1 month |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant