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  • MERRF (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED RED FIBRES), MUTATION DETECTION

MERRF (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED RED FIBRES), MUTATION DETECTION

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 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.

  • Test Type:
  • Pre-test Information:
    No Special preparation required
  • Report Delivery:
    Sample Daily by 11 am; Report 10 days
  • Components:
    0

myoclonic epilepsy associated with ragged-red fibers in other Cities