| EX1485 MERRF (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED RED FIBRES) MUTATION DETECTION |
| Specimen: |
4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. |
| Stability: |
| Room |
Refrigerated |
Frozen |
| NA |
1 week |
NA |
|
| Method: |
PCR |
| Comment: |
|
| Report: |
Contact us to know the TAT. |
| Usage: |
The MERRF syndrome is caused by a maternally-inherited mutation at position 8344 in the mitochondrial genome in over 80% of cases. This point mutation disrupts the mitochondrial gene for tRNA-Lys and so disrupts the synthesis of proteins essential for oxidative phosphorylation. Many genes are involved which include MT-TK, MT-TL1, MT-TH, MT-TS1., MT-TS2, MT-TF, etc. |
| Doctor Specialty: |
Neurologist |
| Disease: |
Disorders of the Nervous System |
| Components: |
|
| Courier Charges: |
0.00 |
| Home Collection: |
Available (*T&C Apply) |
| Department: |
MOLECULAR DIAGNOSTICS |
| Pre Test Information: |
A duly filled Genomics Clinical Information Requisition Form is mandatory. |
Reviews
There are no reviews yet.