Short Description

SCA7 is an autosomal dominant ataxia which is distinguished from other SCAs by marked retinal pigmentary degeneration leading to visual loss and macular degeneration in additon to ataxia. In SCA 7 there is a CAG trinucleotide repeat in chromosome 3p14-p21.1 which results in abnormal Ataxin-7 protein. This expanded repeat size is highly variable and corresponds with variable severity of symptoms.

PreTest Information

Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Detail Description

SCA-7 (SPINOCEREBELLAR ATAXIA): ATXN7 GENE MUTATION Test Cost INR:4000 Symptoms Diagnosis

Spinocerebellar ataxia type 7 (SCA-7) is a genetic disorder that affects the nervous system. It is caused by a mutation in the ATXN7 gene, which is responsible for producing a protein called ataxin-7. This protein is important for the function of nerve cells in the cerebellum, which is the part of the brain that controls movement and coordination.

Symptoms of SCA-7

The symptoms of SCA-7 can vary depending on the severity of the disease. Some common symptoms include:

• Difficulty with coordination and balance
• Problems with speech and swallowing
• Progressive vision loss
• Tremors and muscle stiffness
• Difficulty with fine motor skills

These symptoms usually start to appear in adulthood, typically between the ages of 20 and 40. The disease usually progresses slowly over time, and can eventually lead to severe disability.

Diagnosis of SCA-7

Diagnosing SCA-7 usually involves a combination of physical examination, medical history, and genetic testing. A neurologist will typically perform a physical exam to check for any signs of movement or coordination problems. They may also ask about any family history of neurological disorders.

Genetic testing is the most accurate way to diagnose SCA-7. This involves a blood test to look for mutations in the ATXN7 gene. If a mutation is found, the diagnosis of SCA-7 is confirmed.

ATXN7 GENE MUTATION Test Cost

The cost of the ATXN7 gene mutation test for SCA-7 in India is typically around INR 4000. This may vary depending on the specific testing facility and any additional fees that may be required.

Conclusion

SCA-7 is a genetic disorder that affects the nervous system and can lead to severe disability over time. It is caused by a mutation in the ATXN7 gene, and is typically diagnosed through a combination of physical examination and genetic testing. The cost of the ATXN7 gene mutation test in India is typically around INR 4000. If you or a loved one are experiencing symptoms of SCA-7, it is important to seek medical attention and get tested as soon as possible.

For more information on genetic testing and diagnosis of SCA-7, contact DNA Labs India today.

SCA7 is an autosomal dominant ataxia which is distinguished from other SCAs by marked retinal pigmentary degeneration leading to visual loss and macular degeneration in additon to ataxia. In SCA 7 there is a CAG trinucleotide repeat in chromosome 3p14-p21.1 which results in abnormal Ataxin-7 protein. This expanded repeat size is highly variable and corresponds with variable severity of symptoms.