Short Description

NGS genetic DNA test detecets for variant and mutation detection in ASPA gene for Canavan disease

PreTest Information

Clinical History of Patient who is going for ASPA Gene Canavan disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ASPA Gene Canavan disease

Detail Description

ASPA Gene Canavan Disease NGS Genetic DNA Test Cost INR 20000: Symptoms and Diagnosis

Canavan Disease is a rare genetic disorder that affects the brain and nerve cells. It is caused by a mutation in the ASPA gene, which leads to a deficiency of the enzyme aspartoacylase. The buildup of a compound called N-acetylaspartic acid (NAA) in the brain causes the destruction of the myelin sheath that covers nerve fibers. This results in the progressive degeneration of the brain and leads to symptoms such as developmental delays, hypotonia, and seizures.

Canavan Disease is more common in individuals of Ashkenazi Jewish descent, but it can occur in any ethnic group. The disorder is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene for their child to develop the disease.

Symptoms of Canavan Disease

The symptoms of Canavan Disease usually appear within the first few months of life and may include:

• Developmental delays, including delays in motor skills and speech
• Hypotonia, or low muscle tone
• Seizures
• Macrocephaly, or an abnormally large head
• Difficulty feeding
• Abnormal eye movements
• Sleep disturbances

Diagnosis of Canavan Disease

Canavan Disease can be diagnosed through genetic testing. A sample of DNA is taken from the individual being tested, and the ASPA gene is analyzed for mutations. New Generation Sequencing (NGS) technology is used to identify variations in the DNA sequence of the gene.

The cost of the NGS Genetic DNA Test for Canavan Disease in India is INR 20000. The test is available at DNA Labs India, a leading provider of genetic testing services in the country.

If a child is diagnosed with Canavan Disease, genetic counseling is recommended for the parents and other family members. Genetic counseling can help individuals understand the risks of having children with the disorder and provide information on available treatments and support services.

Conclusion

Canavan Disease is a rare genetic disorder that affects the brain and nerve cells. It is caused by a mutation in the ASPA gene and can be diagnosed through genetic testing using NGS technology. The cost of the test in India is INR 20000. Early diagnosis and intervention can help improve the quality of life for individuals with the disorder and their families.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS Genetic DNA Test for Canavan Disease. Contact us today to learn more about our services and how we can help you.