NX GEN SEQ, CANAVAN DISEASEÂ
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.
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- Nx GEN SEQ CANAVAN DISEASE