Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATP1A3 gene for DYT12

PreTest Information

Clinical History of Patient who is going for ATP1A3 Gene DYT12 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATP1A3 Gene DYT12

Detail Description

ATP1A3 Gene DYT12 NGS Genetic DNA Test: Symptoms, Diagnosis and Cost in India

DYT12 is a rare genetic disorder that affects the movement and coordination of the body. It is caused by mutations in the ATP1A3 gene, which codes for a protein that helps regulate the movement of ions in the brain. The disorder is also known as Rapid-Onset Dystonia-Parkinsonism (RDP) because it is characterized by sudden onset dystonia and parkinsonism-like symptoms.

Symptoms of DYT12

The symptoms of DYT12 can vary from person to person, but they typically include:

• Sudden onset of dystonia
• Parkinsonism-like symptoms
• Tremors
• Muscle spasms
• Difficulty speaking or swallowing
• Abnormal eye movements

Diagnosis of DYT12

Diagnosis of DYT12 is usually made based on a combination of clinical examination, family history, and genetic testing. The genetic testing involves analyzing the DNA of the patient for mutations in the ATP1A3 gene. This can be done using Next-Generation Sequencing (NGS) technology, which allows for the rapid and accurate sequencing of large amounts of DNA.

The DNA sample for testing can be taken from blood, saliva, or other tissues. The test is usually recommended for individuals who have a family history of DYT12 or who have symptoms that suggest the disorder.

Cost of DYT12 NGS Genetic DNA Test in India

The cost of the DYT12 NGS Genetic DNA Test in India is around INR 20,000. This cost may vary depending on the laboratory or testing facility that is used. It is important to note that genetic testing is not covered by most health insurance plans in India, so patients may need to pay for the test out of pocket.

Conclusion

Early diagnosis of DYT12 is important for effective treatment and management of the disorder. The ATP1A3 Gene DYT12 NGS Genetic DNA Test is a reliable and accurate way to diagnose the disorder and can help patients and their families make informed decisions about treatment and care. If you or a loved one is experiencing symptoms of DYT12, talk to your doctor about genetic testing options.

For more information about DYT12 and genetic testing in India, contact DNA Labs India.