| EX1612 Nx GEN SEQUENCING: CANAVAN DISEASE |
| Specimen: |
Submit 10 mL (5 mL min.) of whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. |
| Stability: |
| Room |
Refrigerated |
Frozen |
| 6 hrs |
72 hrs |
NA |
|
| Method: |
NGS, Sanger sequencing |
| Comment: |
|
| Report: |
Contact us to know the TAT. |
| Usage: |
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. The 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 the ASPA gene cause Canavan disease. |
| Doctor Specialty: |
Neurologist, Pediatrician |
| Disease: |
Genetic Disorders-Multiple genetic defects |
| Components: |
*ASPA |
| Courier Charges: |
|
| Home Collection: |
Available (*T&C Apply) |
| Department: |
MOLECULAR DIAGNOSTICS |
| Pre Test Information: |
A duly filled Whole Exome Sequencing Consent Form is mandatory. |
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