| EX1626 Nx GEN SEQUENCING: MEGALOENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS |
| 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: |
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 a 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 (*T&C Apply) |
| Department: |
MOLECULAR DIAGNOSTICS |
| Pre Test Information: |
A duly filled Whole Exome Sequencing Consent Form is mandatory. |
Reviews
There are no reviews yet.