Short Description

NGS genetic DNA test detecets for variant and mutation detection in TPP1 gene for Spinocerebellar ataxia type 7, autosomal recessive

PreTest Information

Clinical History of Patient who is going for TPP1 Gene Spinocerebellar ataxia type 7, autosomal recessive NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TPP1 Gene Spinocerebellar ataxia type 7, autosomal recessive

Detail Description

TPP1 Gene Spinocerebellar Ataxia Type 7 | DNA Labs India

Spinocerebellar ataxia type 7 (SCA7) is a rare genetic disorder that affects the nervous system. It is caused by a mutation in the TPP1 gene, which is responsible for producing an enzyme that breaks down cellular waste. When this enzyme is not produced properly, waste accumulates in nerve cells, leading to their death and the development of SCA7.

Symptoms of SCA7

The symptoms of SCA7 can vary widely from person to person and may include:

• Difficulty with balance and coordination
• Problems with vision, including loss of vision and difficulty moving the eyes
• Speech difficulties
• Weakness in the limbs
• Tremors
• Depression and anxiety

Diagnosis of SCA7

Diagnosis of SCA7 typically involves a thorough medical history and physical examination, as well as genetic testing to look for mutations in the TPP1 gene. This testing can be done using next-generation sequencing (NGS) technology, which allows for the analysis of multiple genes at once.

Cost of NGS Genetic DNA Test for SCA7

The cost of an NGS genetic DNA test for SCA7 in India is approximately INR 20,000. This cost may vary depending on the specific testing facility and any additional testing that may be required.

About DNA Labs India

DNA Labs India is a leading provider of genetic testing services in India. With state-of-the-art facilities and a team of highly trained experts, we offer a wide range of testing options, including NGS genetic DNA testing for SCA7. Our goal is to provide our clients with accurate and reliable results in a timely and affordable manner.

Conclusion

If you or someone you know is experiencing symptoms of SCA7, it is important to seek medical attention and consider genetic testing. At DNA Labs India, we offer NGS genetic DNA testing for SCA7 at an affordable cost. Contact us today to learn more about our testing options and to schedule an appointment.

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 TPP1 Gene Spinocerebellar ataxia type 7, autosomal recessive NGS Genetic DNA Test