Short Description

NGS genetic DNA test detecets for variant and mutation detection in PIK3R5 gene for Ataxia-oculomotor apraxia type 3

PreTest Information

Clinical History of Patient who is going for PIK3R5 Gene Ataxia-oculomotor apraxia type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PIK3R5 Gene Ataxia-oculomotor apraxia type 3

Detail Description

PIK3R5 Gene Ataxia-Oculomotor Apraxia Type 3 NGS Genetic DNA Test

Ataxia-Oculomotor Apraxia Type 3 (AOA3) is a rare genetic disorder that affects the nervous system. It is caused by mutations in the PIK3R5 gene, which provides instructions for making a protein that is involved in the regulation of cell growth and division. AOA3 is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Symptoms of AOA3

The symptoms of AOA3 typically begin in childhood or early adulthood and worsen over time. The most common symptoms include:

• Difficulty with coordination and balance
• Problems with eye movements
• Difficulty with speech and swallowing
• Loss of muscle control
• Tremors

Diagnosis of AOA3

Diagnosis of AOA3 typically involves a thorough medical history and physical examination, as well as genetic testing. A DNA test is used to analyze the PIK3R5 gene to identify any mutations that may be causing the disorder. This test can also be used for carrier screening in individuals who have a family history of AOA3 or who are at risk of being carriers.

NGS Genetic DNA Test Cost

The cost of the PIK3R5 Gene Ataxia-Oculomotor Apraxia Type 3 NGS Genetic DNA Test in India is INR 20,000. This cost includes the genetic testing, as well as any necessary counseling and support services.

Conclusion

AOA3 is a rare genetic disorder that can have a significant impact on an individual's quality of life. However, with early diagnosis and appropriate management, individuals with AOA3 can lead fulfilling lives. The PIK3R5 Gene Ataxia-Oculomotor Apraxia Type 3 NGS Genetic DNA Test is an important tool for diagnosing AOA3 and providing individuals with the information they need to manage their condition effectively.

If you or a loved one is experiencing symptoms of AOA3, it is important to speak with a healthcare provider about genetic testing and other diagnostic options. DNA Labs India offers a comprehensive range of genetic testing services, including the PIK3R5 Gene Ataxia-Oculomotor Apraxia Type 3 NGS Genetic DNA Test, to help individuals and families better understand their genetic health.

Contact DNA Labs India today to learn more about our genetic testing services and how we can help you.

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 PIK3R5 Gene Ataxia-oculomotor apraxia type 3 NGS Genetic DNA Test