Short Description

SCA12 is an autosomal dominant ataxia which is a progressive, degenerative genetic disease with multiple types. In SCA12 there is a CAG trinucleotide repeat in chromosome 5q32.

PreTest Information

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Detail Description

SCA-12 (SPINOCEREBELLAR ATAXIA): PPP2R2B GENE MUTATION Test Cost INR 4000 Symptoms Diagnosis

SCA-12 or Spinocerebellar Ataxia Type 12 is a rare genetic disorder that affects the brain and spinal cord. It is caused by a mutation in the PPP2R2B gene. This gene provides instructions for making a protein called protein phosphatase 2A (PP2A). PP2A is involved in the regulation of cell division and the growth and differentiation of cells. A mutation in this gene can cause the protein to be produced in an abnormal way, leading to the development of SCA-12.

Symptoms of SCA-12

The symptoms of SCA-12 usually begin in adulthood, typically between the ages of 40 and 60. The symptoms may include:

• Difficulty with balance and coordination
• Trouble walking
• Tremors
• Slurred speech
• Difficulty swallowing
• Memory problems
• Depression and anxiety

The severity of the symptoms can vary from person to person. Some people may experience only mild symptoms, while others may have more severe symptoms that can significantly impact their daily life.

Diagnosis of SCA-12

SCA-12 is diagnosed through a genetic test that looks for mutations in the PPP2R2B gene. This test can be performed by a genetic testing laboratory like DNA Labs India. The test involves taking a sample of the patient's blood, which is then analyzed for the presence of the mutation. If the mutation is present, the patient is diagnosed with SCA-12.

PPP2R2B GENE MUTATION Test Cost INR 4000

The cost of the PPP2R2B gene mutation test for SCA-12 at DNA Labs India is INR 4000. This test is performed using state-of-the-art equipment and technology, ensuring accurate and reliable results.

Conclusion

If you or someone you know is experiencing symptoms of SCA-12, it is important to seek medical attention and get a diagnosis as soon as possible. The PPP2R2B gene mutation test at DNA Labs India is a reliable and affordable way to get a diagnosis for this rare genetic disorder. With early diagnosis and treatment, people with SCA-12 can manage their symptoms and lead a fulfilling life.

For more information on SCA-12 and the PPP2R2B gene mutation test, contact DNA Labs India today.

SCA12 is an autosomal dominant ataxia which is a progressive, degenerative genetic disease with multiple types. In SCA12 there is a CAG trinucleotide repeat in chromosome 5q32.