Short Description

Canavan disease is an autosomal recessive degenerative disorder that causes progressive damage to the nerve cells. It is one of the leukodystrophies in which growth or maintenance of the myelin sheath gets disrupted and impeeds transmission of nerve impulses. Neonatal/infantile Canavan disease is the most common and more severe form in which affected infants appear normal for the first few months of life, but by age 3 to 5 months, problems with development become noticeable. These infants usually do not develop motor skills, they have hypotonia, macrocephaly, irritability, feeding and swallowing difficulties, seizures, and sleep disturbances. Mild/juvenile form of Canavan disease is less common. Affected individuals have mildly delayed development of speech and motor skills starting in childhood. TASPA gene codes for enzyme aspartoacylase which breaks down N-acetyl-L-aspartic acid (NAA), which is predominantly found in neurons in the brain. Mutations in ASPA gene cause Canavan disease.

PreTest Information

Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Detail Description

Nx GEN SEQUENCING: CANAVAN DISEASE Test Cost INR:23400 Symptoms Diagnosis

Canavan disease is a rare genetic disorder that affects the central nervous system. It is caused by a deficiency of an enzyme called aspartoacylase, which leads to a buildup of a compound called N-acetylaspartic acid in the brain. This buildup causes damage to the myelin sheath that covers nerve cells, leading to symptoms such as developmental delays, muscle stiffness, and seizures.

Diagnosing Canavan disease can be challenging, as the symptoms can be similar to those of other neurological disorders. However, advances in genetic testing have made it possible to identify the specific genetic mutations that cause Canavan disease.

Nx GEN SEQUENCING

Nx GEN sequencing is a type of genetic testing that uses next-generation sequencing technology to analyze a patient's DNA. This technology allows for the analysis of multiple genes at once, making it a powerful tool for diagnosing genetic disorders like Canavan disease.

Nx GEN sequencing is a highly accurate and reliable method of genetic testing. It can detect even small genetic mutations that may be missed by other types of genetic tests.

Canavan Disease Test Cost INR:23400

The cost of genetic testing for Canavan disease can vary depending on the type of test and where it is done. At DNA Labs India, the cost of Nx GEN sequencing for Canavan disease is INR:23400.

This cost includes the analysis of multiple genes, as well as consultation with a genetic counselor to help patients understand their results.

Symptoms of Canavan Disease

The symptoms of Canavan disease typically appear within the first few months of life. They can include:

• Developmental delays, such as delayed motor skills and speech
• Muscle stiffness
• Seizures
• Abnormal muscle tone, such as floppy or rigid muscles
• Difficulty feeding
• Vision and hearing problems

As the disease progresses, symptoms may worsen and additional complications may develop, such as swallowing difficulties and respiratory problems.

Diagnosis of Canavan Disease

Diagnosing Canavan disease typically involves a combination of physical exams, medical history, and genetic testing. Nx GEN sequencing is a highly accurate and reliable method of genetic testing for Canavan disease.

If you suspect that you or your child may have Canavan disease, it is important to seek medical attention as soon as possible. Early diagnosis and treatment can help manage symptoms and improve outcomes.

Conclusion

Nx GEN sequencing is a powerful tool for diagnosing genetic disorders like Canavan disease. At DNA Labs India, we offer highly accurate and reliable Nx GEN sequencing for Canavan disease at a cost of INR:23400. If you suspect that you or your child may have Canavan disease, it is important to seek medical attention and consider genetic testing to confirm a diagnosis.

Early diagnosis and treatment can help manage symptoms and improve outcomes for those with Canavan disease.

For more information on genetic testing and Canavan disease, contact DNA Labs India today.

Canavan disease is an autosomal recessive degenerative disorder that causes progressive damage to the nerve cells. It is one of the leukodystrophies in which growth or maintenance of the myelin sheath gets disrupted and impeeds transmission of nerve impulses. Neonatal/infantile Canavan disease is the most common and more severe form in which affected infants appear normal for the first few months of life, but by age 3 to 5 months, problems with development become noticeable. These infants usually do not develop motor skills, they have hypotonia, macrocephaly, irritability, feeding and swallowing difficulties, seizures, and sleep disturbances. Mild/juvenile form of Canavan disease is less common. Affected individuals have mildly delayed development of speech and motor skills starting in childhood. TASPA gene codes for enzyme aspartoacylase which breaks down N-acetyl-L-aspartic acid (NAA), which is predominantly found in neurons in the brain. Mutations in ASPA gene cause Canavan disease.