Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATXN7 gene for Spinocerebellar ataxia type 7, autosomal dominant

PreTest Information

Clinical History of Patient who is going for ATXN7 Gene Spinocerebellar ataxia type 7, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATXN7 Gene Spinocerebellar ataxia type 7, autosomal dominant

Detail Description

ATXN7 Gene Spinocerebellar Ataxia Type 7 – Symptoms, Diagnosis and Genetic Testing Cost in India

Spinocerebellar ataxia type 7 (SCA7) is a rare genetic disorder that affects the nervous system. It is caused by a mutation in the ATXN7 gene, which provides instructions for making a protein called ataxin-7. This protein is involved in the normal functioning of nerve cells in the cerebellum, which is the part of the brain that controls movement and coordination.

Symptoms of SCA7

The symptoms of SCA7 can vary from person to person, but typically include:

• Problems with balance and coordination
• Trouble walking and standing
• Difficulty with fine motor skills, such as writing or buttoning clothes
• Slurred speech
• Difficulty swallowing
• Progressive vision loss

These symptoms usually begin in adulthood, between the ages of 20 and 50, and get worse over time. In severe cases, SCA7 can lead to total disability and a shortened lifespan.

Diagnosis of SCA7

If you or a loved one are experiencing symptoms of SCA7, it is important to see a doctor as soon as possible. A neurologist can perform a physical exam and order diagnostic tests to determine if SCA7 is the cause of the symptoms.

One such test is a genetic test that looks for mutations in the ATXN7 gene. This test, known as next-generation sequencing (NGS), can detect even small changes in the DNA sequence and is highly accurate.

Cost of Genetic Testing in India

The cost of NGS genetic testing for SCA7 in India can vary depending on the laboratory and the specific test being performed. On average, the cost is around INR 20,000.

However, it is important to note that genetic testing is not always covered by insurance and may not be accessible to everyone. It is important to speak with a genetic counselor or healthcare provider to determine if genetic testing is the right choice for you.

Conclusion

SCA7 is a rare genetic disorder that can cause a range of symptoms, including problems with movement, coordination, and vision. If you or a loved one are experiencing these symptoms, it is important to seek medical attention and consider genetic testing to determine the cause.

DNA Labs India offers NGS genetic testing for SCA7 and other genetic disorders. Our tests are highly accurate and affordable, and our team of experts is dedicated to providing compassionate and personalized care to every patient.

Contact us today to learn more about genetic testing and how we can help.