Short Description

NGS genetic DNA test detecets for variant and mutation detection in ITPR1 gene for Spinocerebellar ataxia type 29, congenital nonprogressive

PreTest Information

Clinical History of Patient who is going for ITPR1 Gene Spinocerebellar ataxia type 29, congenital nonprogressive NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ITPR1 Gene Spinocerebellar ataxia type 29, congenital nonprogressive

Detail Description

ITPR1 Gene Spinocerebellar Ataxia Type 29: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Spinocerebellar ataxia type 29 (SCA29) is a rare genetic disorder that affects the nervous system. It is caused by mutations in the ITPR1 gene, which is responsible for encoding a protein that helps regulate calcium levels in cells. SCA29 is characterized by progressive cerebellar ataxia, which is a condition that affects coordination and balance. The symptoms of SCA29 usually begin in childhood or adolescence and are nonprogressive, meaning they do not worsen over time.

Symptoms of SCA29

The symptoms of SCA29 can vary from person to person, but typically include:

• Difficulty with coordination and balance
• Unsteady gait
• Tremors
• Slurred speech
• Difficulty with fine motor skills
• Abnormal eye movements

It is important to note that the symptoms of SCA29 are nonprogressive, meaning they do not worsen over time. However, they can still be debilitating and affect a person's quality of life.

Diagnosis of SCA29

SCA29 is diagnosed through genetic testing, specifically through next-generation sequencing (NGS) of the ITPR1 gene. NGS is a type of genetic testing that can analyze multiple genes at once, making it a faster and more efficient way to diagnose genetic disorders.

Genetic testing for SCA29 can be expensive, with costs ranging from INR 20,000 to INR 30,000. However, many insurance companies may cover the cost of genetic testing if it is deemed medically necessary.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing can vary depending on the specific test and the laboratory performing the test. At DNA Labs India, the cost of NGS genetic DNA testing for SCA29 is INR 20,000. This includes the cost of the test, as well as genetic counseling and interpretation of the results.

If you or a loved one are experiencing symptoms of SCA29, it is important to speak with a healthcare provider and consider genetic testing. Early diagnosis can help individuals and families better understand the condition and make informed decisions about treatment and management.

Conclusion

SCA29 is a rare genetic disorder that affects coordination and balance. It is caused by mutations in the ITPR1 gene and is diagnosed through genetic testing, specifically through NGS. While the cost of genetic testing can be expensive, early diagnosis can help individuals and families better understand the condition and make informed decisions about treatment and management.

At DNA Labs India, we offer NGS genetic DNA testing for SCA29 at a cost of INR 20,000. Our team of genetic counselors and experts can help guide you through the testing process and provide support and guidance throughout your journey. Contact us today to learn more.

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 ITPR1 Gene Spinocerebellar ataxia type 29, congenital nonprogressive NGS Genetic DNA Test