Short Description

NGS genetic DNA test detecets for variant and mutation detection in DIAPH3 gene for Auditory neuropathy, autosomal dominant

PreTest Information

Clinical History of Patient who is going for DIAPH3 Gene Auditory neuropathy, autosomal dominant NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DIAPH3 Gene Auditory neuropathy, autosomal dominant NGS Genetic DNA Test gene DIAPH3

Detail Description

DIAPH3 Gene Auditory Neuropathy, Autosomal Dominant NGS Genetic DNA Test

DIAPH3 Gene Auditory Neuropathy is a rare genetic disorder that affects the nerves in the ears responsible for transmitting sound signals to the brain. This disorder is caused by mutations in the DIAPH3 gene and is inherited in an autosomal dominant pattern. Individuals with this disorder may experience hearing loss, difficulty understanding speech, and problems with balance.

Symptoms of DIAPH3 Gene Auditory Neuropathy

The symptoms of DIAPH3 Gene Auditory Neuropathy can vary from person to person. Some individuals may experience mild hearing loss, while others may have more severe hearing loss. In some cases, individuals may have difficulty understanding speech, even when their hearing loss is not severe. Additionally, some individuals may have problems with balance and coordination.

Diagnosis of DIAPH3 Gene Auditory Neuropathy

DIAPH3 Gene Auditory Neuropathy can be diagnosed through a genetic test called Next Generation Sequencing (NGS). This test analyzes the DNA of the individual to detect mutations in the DIAPH3 gene. The test is relatively simple and involves collecting a sample of the individual's blood or saliva.

Cost of NGS Genetic DNA Test

The cost of NGS Genetic DNA Test for DIAPH3 Gene Auditory Neuropathy in India is approximately INR 20,000. However, the cost may vary depending on the laboratory and location.

Conclusion

DIAPH3 Gene Auditory Neuropathy is a rare genetic disorder that can cause hearing loss, difficulty understanding speech, and problems with balance. The disorder is caused by mutations in the DIAPH3 gene and is inherited in an autosomal dominant pattern. NGS Genetic DNA Test is used to diagnose this disorder, and the cost of the test in India is approximately INR 20,000. It is important to detect and diagnose this disorder early to provide appropriate treatment and support to individuals affected by it.

SEO Keywords:

DIAPH3 Gene Auditory Neuropathy, Autosomal Dominant, NGS Genetic DNA Test, Cost, Symptoms, Diagnosis

The DIAPH3 gene is associated with a form of auditory neuropathy known as Auditory Neuropathy, Autosomal Dominant (AUNA). Auditory neuropathy is a condition in which the inner ear's ability to transmit sound to the brain is disrupted due to problems with the auditory nerve.

In cases of Auditory Neuropathy, Autosomal Dominant (AUNA), mutations in the DIAPH3 gene can lead to the development of this genetic condition. AUNA is characterized by hearing loss that results from impaired communication between the hair cells in the cochlea and the auditory nerve fibers.