Short Description

NGS genetic DNA test detecets for variant and mutation detection in GBA2 gene for Cerebellar ataxia with spasticity

PreTest Information

Clinical History of Patient who is going for GBA2 Gene Cerebellar ataxia with spasticity NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GBA2 Gene Cerebellar ataxia with spasticity

Detail Description

GBA2 Gene Cerebellar Ataxia with Spasticity NGS Genetic DNA Test

Cerebellar ataxia with spasticity is a rare genetic disorder that affects the nervous system. It is caused by a mutation in the GBA2 gene, which is responsible for the production of an enzyme that helps break down certain fats in the body. When this gene is mutated, it can lead to a buildup of these fats in the nervous system, which can cause damage and lead to the symptoms of cerebellar ataxia with spasticity.

Symptoms of Cerebellar Ataxia with Spasticity

The symptoms of cerebellar ataxia with spasticity can vary from person to person and can include:

• Difficulty with coordination and balance
• Unsteady gait
• Tremors
• Difficulty speaking or swallowing
• Weakness in the limbs
• Spasticity or stiffness in the muscles
• Difficulty with fine motor skills

Diagnosis of Cerebellar Ataxia with Spasticity

Diagnosing cerebellar ataxia with spasticity can be challenging, as it is a rare disorder and the symptoms can be similar to other neurological conditions. However, genetic testing can help confirm a diagnosis. A NGS Genetic DNA Test can identify mutations in the GBA2 gene, which can confirm a diagnosis of cerebellar ataxia with spasticity.

NGS Genetic DNA Test Cost

The cost of a NGS Genetic DNA Test for cerebellar ataxia with spasticity caused by the GBA2 gene mutation is INR 20,000. This test is performed using state-of-the-art technology and is highly accurate.

Conclusion

If you or a loved one is experiencing symptoms of cerebellar ataxia with spasticity, it is important to seek medical attention. Genetic testing can help confirm a diagnosis and provide valuable information for treatment and management of the condition. The NGS Genetic DNA Test for cerebellar ataxia with spasticity caused by the GBA2 gene mutation is a valuable tool for diagnosis and is available at DNA Labs India.

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

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 GBA2 Gene Cerebellar ataxia with spasticity NGS Genetic DNA Test