GJB2 Regulatory Element Deletion Testing (GJB6-D13S1830 and GJB6-D13S1854)
Use
This test is intended for individuals who have had previous genetic testing that was negative or detected a single variant related to autosomal recessive disease in the relevant gene, where clinical suspicion remains high. It also serves family members of patients who have been confirmed to carry these specific deletions, duplications, or inversions which are associated with certain genetic conditions.
Special Instructions
Not provided.
Limitations
The test is specific to detecting deletions involving GJB2 regulatory elements, specifically GJB6-D13S1830 and GJB6-D13S1854. It may not detect all possible deletions, duplications, or inversions associated with GJB2 or related genetic regions outside the specified targets. False negatives may occur if mutations lie outside the targeted areas or if there are less common mutations with no known significance.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
Unknown CNV
Copy Number RegionUnknown CNV
Copy Number Region
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided