Connexin 30 (GJB6) DNA Test
Also known as: CX30, gap junction protein, beta-6
Use
This test evaluates the common 342 kb deletion in the GJB6 (Connexin 30) gene, which is implicated in hereditary hearing loss. It is particularly useful for identifying a second mutation in patients already carrying a single GJB2 (Connexin 26) mutation, determining the genetic basis for hearing loss in affected individuals, and supporting prenatal diagnosis in at-risk families.
Special Instructions
Not provided.
Limitations
The test detects only the common 342 kb deletion in GJB6. Mutations other than this deletion will not be identified.
Methodology
PCR-based (PCR)
Biomarkers
GJB6
Gene
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
two 5 ml whole blood EDTA tube
Minimum Volume
0.7 ml whole blood EDTA
Container
EDTA (lavender top)
Collection Instructions
Collect two 5ml whole blood in EDTA tube
Causes for Rejection
Serum, frozen or severely hemolyzed blood, clotted blood
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