Short Description

NGS genetic DNA test detecets for variant and mutation detection in SETX gene for Ataxia-oculomotor apraxia type 2

PreTest Information

Clinical History of Patient who is going for SETX Gene Ataxia-oculomotor apraxia type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SETX Gene Ataxia-oculomotor apraxia type 2

Detail Description

SETX Gene Ataxia-oculomotor apraxia type 2 NGS Genetic DNA Test

DNA Labs India offers a comprehensive range of genetic testing services, including the SETX Gene Ataxia-oculomotor apraxia type 2 NGS Genetic DNA Test. This test is designed to detect mutations in the SETX gene that can cause Ataxia-oculomotor apraxia type 2 (AOA2), a rare genetic disorder that affects the nervous system.

What is AOA2?

AOA2 is a rare genetic disorder that affects the nervous system. It is caused by mutations in the SETX gene, which provides instructions for making a protein called senataxin. This protein is involved in repairing DNA damage in cells, particularly in nerve cells. Mutations in the SETX gene can lead to the production of a faulty protein, which can result in the death of nerve cells in the brain and spinal cord.

Symptoms of AOA2

The symptoms of AOA2 can vary widely, but typically include:

• Difficulty with movement and coordination
• Problems with eye movements
• Speech difficulties
• Muscle weakness and wasting
• Sensory problems

Symptoms usually appear in childhood or early adolescence, and can progressively worsen over time. However, the rate of disease progression can vary greatly from person to person.

Diagnosis of AOA2

Diagnosis of AOA2 is typically based on a combination of clinical symptoms, family history, and genetic testing. The SETX Gene Ataxia-oculomotor apraxia type 2 NGS Genetic DNA Test offered by DNA Labs India is a highly accurate and reliable way to detect mutations in the SETX gene that can cause AOA2.

The Cost of the SETX Gene Ataxia-oculomotor apraxia type 2 NGS Genetic DNA Test

The cost of the SETX Gene Ataxia-oculomotor apraxia type 2 NGS Genetic DNA Test at DNA Labs India is INR 20,000. This includes the cost of the test, as well as genetic counseling and support from our team of experts.

Conclusion

If you or a loved one are experiencing symptoms of AOA2, it is important to seek medical attention and consider genetic testing. The SETX Gene Ataxia-oculomotor apraxia type 2 NGS Genetic DNA Test offered by DNA Labs India is a highly accurate and reliable way to detect mutations in the SETX gene that can cause AOA2. Our team of experts is available to provide genetic counseling and support throughout the testing process.

Contact DNA Labs India today to learn more about the SETX Gene Ataxia-oculomotor apraxia type 2 NGS Genetic DNA Test and our other genetic testing services.

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 SETX Gene Ataxia-oculomotor apraxia type 2 NGS Genetic DNA Test