Short Description

NGS genetic DNA test detecets for variant and mutation detection in COQ8A gene for Spinocerebellar ataxia type 9, autosomal rececssive

PreTest Information

Clinical History of Patient who is going for COQ8A Gene Spinocerebellar ataxia type 9, autosomal rececssive NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with COQ8A Gene Spinocerebellar ataxia type 9, autosomal rececssive

Detail Description

COQ8A Gene Spinocerebellar Ataxia Type 9: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Spinocerebellar ataxia type 9 (SCA9) is a rare genetic disorder that affects the nervous system. It is caused by a mutation in the COQ8A gene, which is responsible for producing an enzyme that helps with energy production in cells. SCA9 is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Symptoms of SCA9

The symptoms of SCA9 can vary widely, even among members of the same family. The age of onset can range from childhood to adulthood. Some of the common symptoms of SCA9 include:

• Unsteady gait and difficulty walking
• Tremors or shaking
• Difficulty with fine motor skills, such as writing or buttoning clothes
• Slurred speech or difficulty swallowing
• Loss of coordination and balance
• Difficulty with eye movements

As the disease progresses, these symptoms can worsen and lead to significant disability.

Diagnosis of SCA9

Diagnosing SCA9 can be challenging, as the symptoms can be similar to those of other neurological disorders. However, genetic testing can confirm the diagnosis. A blood sample is taken and analyzed for mutations in the COQ8A gene. If two mutations are found, the diagnosis of SCA9 is confirmed.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for SCA9 in India is approximately INR 20,000. This test uses next-generation sequencing technology to analyze multiple genes simultaneously, which can be more cost-effective than traditional DNA sequencing methods.

Conclusion

SCA9 is a rare genetic disorder caused by a mutation in the COQ8A gene. The symptoms can vary widely and can be similar to those of other neurological disorders, making diagnosis challenging. However, genetic testing can confirm the diagnosis, and NGS genetic DNA testing can be a cost-effective option. If you or a loved one is experiencing symptoms of SCA9, it is important to speak with a healthcare provider and consider genetic testing.

At DNA Labs India, we offer a range of genetic tests, including NGS genetic DNA testing for SCA9. Our team of experienced genetic counselors and scientists can provide guidance and support throughout the testing process. Contact us today to learn more.