MERRF (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED RED FIBRES), MUTATION DETECTION
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 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.
Parameter(s) covered : 1
Report Frequency: Sample Daily by 11 am; Report 10 Working days
Special Instruction: Physician prescription is mandatory.
Price : ₹ 14100.00
Parameters
- MERRF (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED R