Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATN1 gene for Dentatorubral-pallidoluysian atrophy

PreTest Information

Clinical History of Patient who is going for ATN1 Gene Dentatorubral-pallidoluysian atrophy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATN1 Gene Dentatorubral-pallidoluysian atrophy

Detail Description

ATN1 Gene Dentatorubral-pallidoluysian atrophy NGS Genetic DNA Test

Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare genetic disorder that affects the nervous system. It is caused by a mutation in the ATN1 gene. This gene provides instructions for making a protein called atrophin-1, which is important for the development and function of the brain and nervous system.

DRPLA is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene to develop the disorder. Symptoms usually appear in the 20s or 30s, but can also appear in childhood or later in life.

Symptoms

DRPLA can cause a wide range of symptoms, which can vary from person to person. Some of the most common symptoms include:

• Uncontrolled movements of the arms, legs, and face
• Muscle stiffness and rigidity
• Difficulty with coordination and balance
• Mental decline and dementia
• Seizures

Diagnosis

DRPLA is diagnosed through genetic testing, specifically next-generation sequencing (NGS) of the ATN1 gene. This test looks for mutations in the gene that are associated with DRPLA. A blood sample is typically collected from the patient and sent to a lab for testing.

Cost

The cost of the ATN1 gene DRPLA NGS genetic DNA test in India is typically around INR 20,000. However, this cost can vary depending on the specific lab or testing facility that is used.

Conclusion

If you or a loved one are experiencing symptoms of DRPLA, it is important to seek medical attention and consider genetic testing. The ATN1 gene DRPLA NGS genetic DNA test can help diagnose the disorder and provide important information for treatment and management. While the cost of the test can vary, it is a valuable tool for those affected by this rare genetic disorder.

For more information about genetic testing and DNA labs in India, contact DNA Labs India today.