Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC35A3 gene for Arthrogryposis, mental retardation, and seizures

PreTest Information

Clinical History of Patient who is going for SLC35A3 Gene Arthrogryposis, mental retardation, and seizures NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC35A3 Gene Arthrogryposis, mental retardation, and seizures NGS Genetic DNA Test gene SLC35A3

Detail Description

SLC35A3 Gene Arthrogryposis, Mental Retardation, and Seizures NGS Genetic DNA Test

Arthrogryposis, mental retardation, and seizures are a group of disorders that affect the muscle tone and movement of an individual. These disorders are caused by genetic mutations that affect the development of the brain and nervous system. One such gene that has been associated with these disorders is the SLC35A3 gene.

What is the SLC35A3 Gene?

The SLC35A3 gene provides instructions for making a protein that helps transport molecules across the cell membrane. This protein is important for the development and function of the brain and nervous system. Mutations in the SLC35A3 gene can disrupt the normal functioning of this protein, leading to various neurological disorders.

Symptoms of SLC35A3 Gene Mutations

SLC35A3 gene mutations have been associated with a range of symptoms, including:

• Arthrogryposis: a condition where joints are stiff and movement is limited
• Mental retardation: a condition where intellectual abilities are below average
• Seizures: sudden, uncontrolled electrical activity in the brain
• Delayed speech and language development
• Muscle weakness
• Abnormal curvature of the spine

Diagnosis of SLC35A3 Gene Mutations

SLC35A3 gene mutations can be diagnosed through genetic testing. Next-generation sequencing (NGS) is a type of genetic testing that can sequence multiple genes at once, making it a useful tool for diagnosing rare genetic disorders like those associated with SLC35A3 mutations.

NGS Genetic DNA Test Cost in India

The cost of an NGS genetic DNA test in India can vary depending on the testing facility and the number of genes being sequenced. For SLC35A3 gene testing, the cost can range from INR 15,000 to INR 20,000.

Conclusion

SLC35A3 gene mutations can cause a range of neurological disorders, including arthrogryposis, mental retardation, and seizures. Genetic testing, such as NGS sequencing, can help diagnose these disorders and provide insight into potential treatment options. If you or a loved one is experiencing symptoms associated with SLC35A3 gene mutations, speak to a healthcare professional about genetic testing options.

At DNA Labs India, we offer NGS genetic DNA testing services for a range of genetic disorders, including those associated with SLC35A3 gene mutations. Contact us today to learn more about our testing options.