GJB2 Sequencing, Family-targeted (Single Exon Sequencing−Known Mutation)
Also known as: Connexin 26, Hearing Loss (GJB2)
Use
Detects known familial mutations in the connexin 26 (GJB2) gene associated with nonsyndromic sensorineural hearing loss (NSHL). This option is available when the mutation is known and can be documented by the ordering physician. If the mutation cannot be documented, please order full gene sequencing.
Special Instructions
This test only covers the exon or amplicon that harbors the variant(s) of interest. Other regions of the gene will not be examined. Submission of maternal blood is required for fetal testing.
Limitations
This method does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; deep intronic variants or variants outside of the regions targeted by this analysis. It may be affected by allele-dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.
Methodology
NGS
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