Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATP10A gene for Autism/Mental retardation/Angelman syndrome, susceptibility to, ATP10A related

PreTest Information

Clinical History of Patient who is going for ATP10A Gene Autism/Mental retardation/Angelman syndrome, susceptibility to, ATP10A related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATP10A Gene Autism/Mental retardation/Angelman syndrome, susceptibility to, ATP10A related

Detail Description

Understanding ATP10A Gene and Susceptibility to Autism, Mental Retardation, and Angelman Syndrome

The ATP10A gene is responsible for encoding a protein that plays an important role in maintaining the balance of ions within cells. This gene is located on chromosome 15 and is known for its association with susceptibility to Autism, Mental Retardation, and Angelman Syndrome.

What is Autism, Mental Retardation, and Angelman Syndrome?

Autism is a neurodevelopmental disorder that affects social interaction, communication, and behavior. Mental retardation, also known as intellectual disability, is a condition characterized by significant limitations in intellectual functioning and adaptive behavior. Angelman Syndrome is a genetic disorder that affects the nervous system and causes developmental delays, speech impairments, and movement problems.

ATP10A Gene and Susceptibility to Autism, Mental Retardation, and Angelman Syndrome

Research has shown that mutations in the ATP10A gene can increase the risk of developing Autism, Mental Retardation, and Angelman Syndrome. These mutations can affect the ability of the protein to function properly, leading to imbalances in ion concentration that can disrupt cellular processes and cause developmental problems.

Diagnosis of ATP10A Gene Mutations

NGS Genetic DNA testing is the most effective method for identifying mutations in the ATP10A gene. This test involves sequencing the entire DNA sequence of the gene to identify any variations or mutations that may be present. The test is performed using a small sample of blood or saliva and can be completed within a few weeks.

Symptoms of ATP10A Gene Mutations

The symptoms of ATP10A gene mutations can vary depending on the specific mutation and the severity of the condition. Some common symptoms include developmental delays, speech impairments, movement problems, and intellectual disability.

Cost of ATP10A Related NGS Genetic DNA Test

The cost of ATP10A related NGS Genetic DNA Test in India is INR 20,000. This cost may vary depending on the testing facility and the specific type of test being performed.

Conclusion

The ATP10A gene plays a critical role in maintaining cellular ion balance and mutations in this gene can increase the risk of developing Autism, Mental Retardation, and Angelman Syndrome. NGS Genetic DNA testing is an effective method for identifying mutations in this gene and can help in the diagnosis of these conditions. If you suspect that you or a loved one may be at risk for these conditions, it is important to speak with a healthcare provider and consider genetic testing.

At DNA Labs India, we offer state-of-the-art NGS Genetic DNA testing services to help diagnose various genetic disorders, including ATP10A related disorders. Our team of experienced genetic counselors and scientists can provide you with personalized genetic counseling and testing services to help you make informed decisions about your health. Contact us today to learn more about our testing services and how we can help you.