| EX1478 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS; VAN DER KNAAP AND NALBAND MLC GENE HOTSPOT MUTATION |
| Specimen: |
4 mL (2 mL min.) whole blood in 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. |
| Stability: |
| Room |
Refrigerated |
Frozen |
| 6 hrs |
1 week |
NA |
|
| Method: |
PCR, Sequencing |
| Comment: |
Samples received on holidays will be reported in the next schedule/next working day. |
| Report: |
Contact us to know the TAT. |
| Usage: |
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by macrocephaly, diffuse and swollen cerebral hemispheric white matter, progressive motor dysfunction, spasticity, recurrent episodes of ataxia often with or without mental retardation, and epileptic seizures. The onset of the MLC disease may be neonatal, in childhood, or very rarely in adulthood. Van der Knaap described the MLC1 pathogenic variant which has been identified in individuals from Japan, Finland, Turkey, Italy, and India. In India, major cases have been reported from the Bansal-Agarwal community in Agra and some cases from non-Agarwal communities. Accurate clinical diagnoses in most cases are difficult due to overlapping clinical manifestations with other leukodystrophies. The accurate diagnosis of the type of leukodystrophy is pivotal for the clinical management of the disease. |
| Doctor Specialty: |
Neurologist |
| Disease: |
Disorders of the Nervous system |
| Components: |
*MLC1 Gene |
| Courier Charges: |
|
| Home Collection: |
Available (*T&C Apply) |
| Department: |
MOLECULAR DIAGNOSTICS |
| Pre Test Information: |
A duly filled Genomics Clinical Information Requisition Form is mandatory. |
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