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MT-TK Gene MERRF syndrome, MT-TK related NGS Genetic DNA Test Cost 20000 Rs
MT-TK Gene MERRF syndrome, MT-TK related NGS Genetic DNA Test Details
MT-TK Gene MERRF Syndrome: Symptoms, Diagnosis and NGS Genetic DNA Test Cost
MT-TK gene MERRF syndrome is a rare mitochondrial disease that affects the muscle and nervous system. It is caused by mutations in the MT-TK gene, which provides instructions for making a protein called tRNA lysine. This protein is essential for the production of energy in the body. When mutations occur in the MT-TK gene, it can lead to a reduction in tRNA lysine production and cause the symptoms associated with MERRF syndrome.
Symptoms
The symptoms of MERRF syndrome can vary from person to person and may include:
- Muscle weakness
- Seizures
- Ataxia (loss of coordination)
- Hearing loss
- Vision problems
- Cognitive impairment
- Cardiac abnormalities
The onset of symptoms can occur at any age, but they typically appear in childhood or adolescence.
Diagnosis
Diagnosing MERRF syndrome can be challenging, as the symptoms can be similar to other neurological disorders. However, there are several tests that can help confirm the diagnosis, including:
- Genetic testing: This involves analyzing the MT-TK gene for mutations.
- Electromyography (EMG): This test measures the electrical activity in the muscles.
- Muscle biopsy: This involves taking a small sample of muscle tissue to examine under a microscope.
If MERRF syndrome is suspected, it is important to see a doctor who specializes in mitochondrial disease.
NGS Genetic DNA Test Cost
Next-generation sequencing (NGS) is a powerful tool for genetic testing that can analyze multiple genes at once. The cost of an NGS genetic DNA test for MT-TK related disorders in India is approximately INR 20,000.
It is important to note that genetic testing may not always be covered by insurance, so it is important to check with your provider before undergoing testing.
Conclusion
MERRF syndrome is a rare mitochondrial disease that can cause a range of symptoms, including muscle weakness, seizures, and cognitive impairment. Diagnosing MERRF syndrome can be challenging, but genetic testing, EMG, and muscle biopsy can help confirm the diagnosis. The cost of an NGS genetic DNA test for MT-TK related disorders in India is approximately INR 20,000.
If you suspect you or a loved one may have MERRF syndrome, it is important to seek medical attention from a doctor who specializes in mitochondrial disease.
At DNA Labs India, we offer NGS genetic testing for MT-TK related disorders. Our tests are performed in a state-of-the-art laboratory using the latest technology to ensure accurate and reliable results. Contact us today to learn more about our testing services.
Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for MT-TK Gene MERRF syndrome, MT-TK related NGS Genetic DNA Test
