Short Description

SCA17 is an autosomal dominant neurologic disorder characterized by ataxia, pyramidal and extrapyramidal signs, cognitive impairments, psychosis, and seizures. Anticipation in SCA17 is uncommon due to the interrupted configuration of the repeat alleles, which results in stabilization during intergenerational transmission. It can be caused by heterozygous expansion of a trinucleotide repeat encoding glutamine (CAG or CAA) in the TATA box-binding protein (TBP 600075). Rarely, SCA17 has been found to be caused by homozygous or compound heterozygous TBP repeat expansions.

PreTest Information

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

Detail Description

SCA-17 (SPINOCEREBELLAR ATAXIA): TBP GENE MUTATION Test cost INR:4500 symptoms diagnosis

SCA-17, also known as Spinocerebellar Ataxia Type 17, is a rare genetic disorder that affects the nervous system. It is caused by mutations in the TBP gene, which is responsible for producing a protein that helps to regulate other genes.

Individuals with SCA-17 experience a wide range of symptoms, including problems with movement, balance, and coordination. Other symptoms may include difficulty speaking, memory loss, and changes in mood or behavior.

Diagnosis of SCA-17

Diagnosis of SCA-17 is typically done through genetic testing. This involves analyzing a sample of DNA from the individual to look for mutations in the TBP gene. The test can be done using a blood sample or a cheek swab, and the results usually take a few weeks to come back.

Cost of the TBP gene mutation test

The cost of the TBP gene mutation test for SCA-17 in India is INR 4500. This cost may vary depending on the laboratory or clinic where the test is done.

What to expect during the test

During the test, a healthcare professional will collect a sample of blood or cells from the individual being tested. This sample will then be sent to a laboratory for analysis. The individual being tested should not experience any pain or discomfort during the procedure.

Conclusion

If you or someone you know is experiencing symptoms of SCA-17, it is important to seek medical attention. A genetic test for the TBP gene mutation can help to confirm a diagnosis, and early treatment can help to manage symptoms and improve quality of life. The cost of the test in India is INR 4500, and results usually take a few weeks to come back. Speak to a healthcare professional for more information about testing and treatment options for SCA-17.

At DNA Labs India, we offer a range of genetic testing services, including testing for SCA-17 and other genetic disorders. Our team of experienced professionals is committed to providing accurate and reliable results to help individuals make informed decisions about their health. Contact us today to learn more about our services.

Are you experiencing symptoms of SCA-17? Learn about the TBP gene mutation test and the cost in India. DNA Labs India offers genetic testing services for a range of disorders.

SCA17 is an autosomal dominant neurologic disorder characterized by ataxia, pyramidal and extrapyramidal signs, cognitive impairments, psychosis, and seizures. Anticipation in SCA17 is uncommon due to the interrupted configuration of the repeat alleles, which results in stabilization during intergenerational transmission. It can be caused by heterozygous expansion of a trinucleotide repeat encoding glutamine (CAG or CAA) in the TATA box-binding protein (TBP; 600075). Rarely, SCA17 has been found to be caused by homozygous or compound heterozygous TBP repeat expansions.