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
Not provided.
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
GJB2
Gene
LOINC Codes
- 35300-3 - GJB2 gene Mut Anl Bld/T
- 35300-3 - GJB2 gene Mut Anl Bld/T
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;
Other tests from different labs that may be relevant