Short Description

NGS genetic DNA test detecets for variant and mutation detection in TIMM8A gene for Dystonia-deafness syndrome

PreTest Information

Clinical History of Patient who is going for TIMM8A Gene Dystonia-deafness syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TIMM8A Gene Dystonia-deafness syndrome

Detail Description

Understanding TIMM8A Gene Dystonia-deafness syndrome

Dystonia-deafness syndrome is a rare genetic disorder that affects an individual's ability to hear and move their body. The condition is caused by mutations in the TIMM8A gene, which is responsible for producing a protein that helps transport other proteins into the mitochondria of cells. Without this protein, cells in the body cannot function properly, leading to the symptoms of dystonia-deafness syndrome.

Symptoms of TIMM8A Gene Dystonia-deafness syndrome

The symptoms of dystonia-deafness syndrome can vary from person to person, but typically include:

• Difficulty hearing or complete deafness
• Involuntary muscle contractions that cause twisting or repetitive movements
• Muscle weakness or stiffness
• Speech difficulties
• Difficulty swallowing
• Delayed developmental milestones in children

Diagnosing TIMM8A Gene Dystonia-deafness syndrome

Diagnosing dystonia-deafness syndrome can be challenging, as the symptoms can be similar to other conditions. However, genetic testing can confirm the presence of mutations in the TIMM8A gene and provide a definitive diagnosis. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once, making it a useful tool for diagnosing rare genetic disorders like dystonia-deafness syndrome.

NGS Genetic DNA Test cost

The cost of an NGS genetic DNA test for dystonia-deafness syndrome can vary depending on the laboratory and location. At DNA Labs India, our NGS genetic DNA test for dystonia-deafness syndrome costs INR 20000.

Conclusion

If you or a loved one is experiencing symptoms of dystonia-deafness syndrome, it is important to seek medical attention and consider genetic testing. The TIMM8A gene is responsible for producing a crucial protein that helps cells function properly, and mutations in this gene can lead to a range of symptoms. With a definitive diagnosis, individuals with dystonia-deafness syndrome can receive appropriate treatment and support to manage their symptoms and improve their quality of life.

At DNA Labs India, we offer a range of genetic testing services to help individuals and families better understand their genetic makeup and potential health risks. Contact us today to learn more about our NGS genetic DNA test for dystonia-deafness syndrome.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for TIMM8A Gene Dystonia-deafness syndrome NGS Genetic DNA Test