Short Description

NGS genetic DNA test detecets for variant and mutation detection in APTX gene for Ataxia-oculomotor apraxia type 1

PreTest Information

Clinical History of Patient who is going for APTX Gene Ataxia-oculomotor apraxia type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with APTX Gene Ataxia-oculomotor apraxia type 1

Detail Description

APTX Gene Ataxia-Oculomotor Apraxia Type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Ataxia-Oculomotor Apraxia Type 1 (AOA1) is a rare genetic disorder that affects the nervous system. It is caused by mutations in the APTX gene and is inherited in an autosomal recessive pattern. The APTX gene provides instructions for making a protein that is involved in repairing damaged DNA.

Symptoms of AOA1

AOA1 typically presents in childhood or adolescence and can result in a variety of symptoms, including:

• Difficulty with coordination and balance
• Tremors
• Slurred speech
• Difficulty with fine motor skills
• Difficulty with eye movements

These symptoms can worsen over time and can lead to severe disability.

Diagnosis of AOA1

AOA1 can be diagnosed through genetic testing, specifically Next-Generation Sequencing (NGS) of the APTX gene. This test can detect mutations in the APTX gene with high accuracy.

In addition to genetic testing, a doctor may perform neurological exams and imaging tests to help diagnose AOA1.

Cost of AOA1 NGS Genetic DNA Test

The cost of the AOA1 NGS Genetic DNA Test in India is INR 20,000. DNA Labs India offers this test with a turnaround time of 21 days.

Conclusion

AOA1 is a rare genetic disorder that can cause significant disability. Genetic testing, specifically NGS of the APTX gene, can help diagnose this condition with high accuracy. The cost of this test in India is INR 20,000 through DNA Labs India.

If you or a loved one is experiencing symptoms of AOA1, it is important to speak with a healthcare provider and consider genetic testing to help with diagnosis and management of the condition.