Short Description

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._x000D_ Many genes are involved which include MT-TK, MT-TL1, MT-TH, MT-TS1., MT-TS2, MT-TF etc.

PreTest Information

Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Detail Description

MERRF (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED RED FIBRES) MUTATION DETECTION Test: Cost, Symptoms, and Diagnosis

MERRF, or Myoclonic Epilepsy Associated with Ragged Red Fibres, is a rare genetic disorder that affects the muscles and nervous system. It is caused by mutations in the mitochondrial DNA, which is responsible for producing energy within cells.

The MERRF mutation detection test is a genetic test that can identify the presence of mutations in the mitochondrial DNA. This test can help diagnose MERRF and other mitochondrial disorders.

Cost of the MERRF Mutation Detection Test

The cost of the MERRF mutation detection test in India is approximately INR 16,000. The cost may vary depending on the laboratory and location.

Symptoms of MERRF

MERRF can cause a range of symptoms, including:

• Myoclonic seizures
• Muscle weakness and wasting
• Ataxia
• Hearing loss
• Vision problems
• Cognitive impairment
• Cardiac abnormalities

The symptoms of MERRF can vary from person to person and may appear at different ages. Some people may have milder symptoms, while others may experience more severe symptoms.

Diagnosis of MERRF

Diagnosing MERRF can be challenging, as the symptoms can be similar to those of other neurological disorders. A diagnosis of MERRF is usually based on a combination of clinical symptoms, family history, and genetic testing.

The MERRF mutation detection test is a genetic test that can identify the presence of mutations in the mitochondrial DNA. This test can help confirm a diagnosis of MERRF and other mitochondrial disorders.

Conclusion

The MERRF mutation detection test is a valuable tool for diagnosing MERRF and other mitochondrial disorders. While the cost of the test may vary, it is an important investment in identifying and treating this rare genetic disorder.

If you or a loved one is experiencing symptoms of MERRF or other mitochondrial disorders, it is important to seek medical attention and discuss the possibility of genetic testing with your healthcare provider.

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.