Short Description

Connexin 26 (Cx26) is a protein found on the (GJB2) gene and is the most common cause of congenital sensorineural hearing loss. Connexin 26 mutations are responsible for at least 20% of all genetic hearing loss and 10% of all childhood hearing loss.

PreTest Information

Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Detail Description

CONNEXIN 26 MUTATION DETECTION Test: Symptoms, Diagnosis, and Cost

DNA Labs India offers a Connexin 26 mutation detection test to identify the presence of genetic mutations that can cause hearing loss. This test is particularly important for newborns who fail the hearing screening test, as it can help diagnose the underlying cause of their hearing impairment.

Symptoms of Connexin 26 Mutation

Connexin 26 is a protein that plays a crucial role in the functioning of the inner ear. Mutations in the GJB2 gene, which codes for Connexin 26, can cause a range of hearing impairments, from mild to profound. Some common symptoms of Connexin 26 mutation include:

• Delayed or absent speech development
• Difficulty understanding speech, particularly in noisy environments
• Difficulty hearing high-pitched sounds
• Need for increased volume on electronic devices

Diagnosis of Connexin 26 Mutation

The Connexin 26 mutation detection test involves analyzing a sample of the patient's DNA to identify any mutations in the GJB2 gene. This test is typically recommended for newborns who fail their initial hearing screening, as well as for individuals with a family history of hearing loss or other genetic conditions.

The test is typically performed using a blood sample, although other types of samples may be used, such as saliva or cheek swabs. Results of the test are typically available within a few weeks.

Cost of Connexin 26 Mutation Detection Test

The cost of the Connexin 26 mutation detection test at DNA Labs India is INR 10,500. This cost includes the analysis of the patient's DNA sample and the interpretation of the results by a qualified genetic counselor.

It is important to note that this test may not be covered by insurance, so patients should check with their insurance provider before undergoing testing. However, many insurance providers do cover genetic testing for hearing loss, particularly for newborns who fail their initial hearing screening.

Conclusion

The Connexin 26 mutation detection test offered by DNA Labs India is a valuable tool for diagnosing the underlying cause of hearing loss. By identifying mutations in the GJB2 gene, this test can help guide treatment and management strategies for patients with hearing impairments. If you or a loved one is experiencing symptoms of hearing loss, talk to your healthcare provider about the possibility of genetic testing.

For more information about the Connexin 26 mutation detection test or other genetic testing services offered by DNA Labs India, please visit our website or contact us directly.