GJB2 Sequencing, Full Gene Sequencing
Also known as: Connexin 26, Hearing Loss (GJB2)
Use
Confirms a diagnosis of GJB2-related nonsyndromic sensioneural hearing loss; detects carriers.
Special Instructions
Submission of maternal blood is required for fetal testing.
Limitations
The method does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; deep intronic variants or variants outside targeted regions. It may not determine exact numbers of T/A or microsatellite repeats and cannot conclude if two heterozygous variants are present on the same or different chromosome copies. Allele dropout may affect the results.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 35300-3
- 35300-3
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
7 mL
Minimum Volume
3 mL
Container
Lavender-top (EDTA) tube or yellow-top (ACD) tube
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C.
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container;