MERRF (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED RED FIBRES) MUTATION DETECTION Test in Agra

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    Test Recommended For:

    Male

  • Report Frequency :

    Sample Daily by 11 am; Report 10 Working days

  • view report
  • parameter icon

    Parameters :

    1

  • ₹ 14100
Special Instruction :
Physician prescription is mandatory.

Overview

MERRF (Myoclonic epilepsy associated with ragged red fibres) is a very rare disorder that can appear in childhood or adolescents or adulthood. The disease arises due to a mutation in mitochondria which are structures present inside your cells. It is inherited from the mother. MERRF syndrome affects the nervous system, muscles & other body systems. Symptoms include muscle jerks, muscle weakness, seizures, ataxia, problems of vision, hearing loss and heart disease. This is associated with appearance of ragged red muscle fibres under the microscope.

Parameters

Doctor Information

Code

Pre-test Information

Physician prescription is mandatory.

Code

Report Delivery

Sample Daily by 11 am; Report 10 Working days

Code

Code

OS163

Category

Category

Disorders of Nervous System

Stability Room

Stability Room

NA

Stability Refrigerated

Stability Refrigerated

1 week

Stability Frozen

Stability Frozen

NA

Method

Method

PCR

Specimen

Usage

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.

Specimen

Specimen

4 mL (2 mL min.) Whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Physician prescription is mandatory.

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