Short Description

NGS genetic DNA test detecets for variant and mutation detection in BRAT1 gene for Neurodevelopmental disorder with cerebellar atrophy and with or without seizures

PreTest Information

Clinical History of Patient who is going for BRAT1 Gene Neurodevelopmental disorder with cerebellar atrophy and with or without seizures NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with BRAT1 Gene Neurodevelopmental disorder with cerebellar atrophy and with or without seizures

Detail Description

BRAT1 Gene Neurodevelopmental Disorder with Cerebellar Atrophy and with or without Seizures

BRAT1 gene neurodevelopmental disorder with cerebellar atrophy and with or without seizures is a rare genetic disorder that affects the development of the nervous system, particularly the cerebellum. The cerebellum is the part of the brain that controls balance, coordination, and movement. The disorder is caused by mutations in the BRAT1 gene, which provides instructions for making a protein that is important for the development of the cerebellum and other parts of the nervous system.

Symptoms

The symptoms of BRAT1 gene neurodevelopmental disorder with cerebellar atrophy and with or without seizures can vary from person to person. Some common symptoms include:

• Ataxia (lack of coordination and balance)
• Hypotonia (low muscle tone)
• Intellectual disability
• Speech difficulties
• Seizures (in some cases)

Diagnosis

Diagnosis of BRAT1 gene neurodevelopmental disorder with cerebellar atrophy and with or without seizures is typically done through genetic testing. Next-generation sequencing (NGS) genetic DNA testing can be used to detect mutations in the BRAT1 gene. Other tests, such as brain imaging and developmental assessments, may also be done to help diagnose the disorder and assess its severity.

Treatment

There is currently no cure for BRAT1 gene neurodevelopmental disorder with cerebellar atrophy and with or without seizures. Treatment is focused on managing the symptoms and providing supportive care. This may include physical therapy, speech therapy, and medications to control seizures or other symptoms. Early intervention and ongoing support can help improve outcomes for people with the disorder.

Cost of NGS Genetic DNA Test

The cost of NGS genetic DNA testing for BRAT1 gene neurodevelopmental disorder with cerebellar atrophy and with or without seizures can vary depending on the provider and location. In India, the cost is typically around INR 20,000. It is important to check with your healthcare provider or genetic testing provider for specific pricing information.

Conclusion

BRAT1 gene neurodevelopmental disorder with cerebellar atrophy and with or without seizures is a rare genetic disorder that affects the development of the nervous system. Symptoms can vary, but may include ataxia, hypotonia, and intellectual disability. Diagnosis is typically done through genetic testing, and treatment is focused on managing symptoms and providing supportive care. NGS genetic DNA testing for the disorder typically costs around INR 20,000 in India.

Early diagnosis and intervention can help improve outcomes for people with BRAT1 gene neurodevelopmental disorder with cerebellar atrophy and with or without seizures. If you or a loved one is experiencing symptoms of the disorder, it is important to talk to a healthcare provider about the possibility of genetic testing and other diagnostic and treatment options.

For more information on genetic testing and other DNA testing services, contact DNA Labs India.