Description
| Specimen: | Whole blood |
| Stability: | |
| Method: | NGS, Sanger sequencing |
| Comment: | Samples received on holidays will be reported in next schedule / next working day. |
| Price: | 20000.00 |
| Report: | Sample Daily by 9 am; Report 40 Working days |
| Usage: | Megaloencephalic Leukoencephalopathy with Subcortical cysts (MLC) is characterized by early-onset macrocephaly, often in combination with mild gross motor developmental delay and seizures; gradual onset of ataxia, spasticity and sometimes extrapyramidal findings along with late onset of mild mental deterioration. MLC type 1 which accounts for 75% of cases is due to mutations in the MLC1 gene. The gene MLC1 codes for protein found in astroglial cells. Mutations in the HEPACAM gene cause MLC types 2A and 2B, together which account for 20% of all cases. The gene HEPACAM codes for a protein called GlialCAM which primarily functions in the brain, particularly in glial cells. |
| Doctor Specialty: | Neurologist |
| Disease: | Genetic Disorders-Macrocephaly |
| Components: | MLC1, HEPACAM |
| Courier Charges: | |
| Home Collection: | Available |
| Department: | MOLECULAR DIAGNOSTICS |
| Pre Test Information: |
