Short Description

NGS genetic DNA test detecets for variant and mutation detection in MT-TP gene for MERRF syndrome, MT-TP related

PreTest Information

Clinical History of Patient who is going for MT-TP Gene MERRF syndrome, MT-TP related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with MT-TP Gene MERRF syndrome, MT-TP related

Detail Description

MT-TP Gene and MERRF Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

MERRF syndrome is a rare mitochondrial disease caused by mutations in the MT-TP gene. This gene encodes for transfer RNA, which is responsible for transporting amino acids during protein synthesis. When mutations occur in this gene, it can lead to a wide range of symptoms and complications.

Symptoms of MERRF Syndrome

The symptoms of MERRF syndrome can vary from person to person, but they typically include:

• Muscle weakness and wasting
• Myoclonus (involuntary muscle twitches)
• Seizures
• Ataxia (problems with coordination and balance)
• Dementia
• Hearing loss

These symptoms usually appear in childhood or early adulthood and progressively worsen over time. In some cases, the symptoms may be milder or more severe depending on the specific mutation in the MT-TP gene.

Diagnosis of MERRF Syndrome

The diagnosis of MERRF syndrome is based on a combination of clinical symptoms, family history, and genetic testing. A doctor may perform a physical examination to assess muscle strength, coordination, and reflexes. They may also order an electroencephalogram (EEG) to look for abnormal brain activity.

Genetic testing is the most reliable way to diagnose MERRF syndrome. A blood or saliva sample can be collected and analyzed using next-generation sequencing (NGS) technology. This allows for a comprehensive analysis of the MT-TP gene to identify any mutations or variations that may be present.

NGS Genetic DNA Test Cost for MT-TP Gene

The cost of an NGS genetic DNA test for the MT-TP gene can vary depending on the testing facility and location. In India, the average cost for this test is around INR 20,000.

It's important to note that genetic testing may not be covered by insurance, so it's important to check with your provider before undergoing testing. However, the cost of genetic testing may be worth it for those who have a family history of MERRF syndrome or other mitochondrial diseases.

Conclusion

MERRF syndrome is a rare mitochondrial disease caused by mutations in the MT-TP gene. Symptoms can vary but typically include muscle weakness, seizures, and ataxia. Diagnosis is based on a combination of clinical symptoms and genetic testing using NGS technology. The cost of an NGS genetic DNA test for the MT-TP gene in India is around INR 20,000. If you suspect you or a loved one may have MERRF syndrome or another mitochondrial disease, it's important to speak with a healthcare provider to discuss testing and treatment options.

At DNA Labs India, we offer comprehensive genetic testing services for a wide range of conditions, including MERRF syndrome. Our team of experts uses the latest technology and techniques to provide accurate and reliable results. Contact us today to learn more about our services and how we can help you.

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-TP Gene MERRF syndrome, MT-TP related NGS Genetic DNA Test