Short Description

NGS genetic DNA test detecets for variant and mutation detection in MT-TR gene for Encephalomyopathy, mitochondrial, MT-TR related

PreTest Information

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

Detail Description

MT-TR Gene Encephalomyopathy: Symptoms, Diagnosis, and Cost of NGS Genetic DNA Test

Encephalomyopathy is a rare genetic disorder that affects the brain and muscles. It is caused by mutations in the mitochondrial DNA (mtDNA) and can be inherited from the mother. The MT-TR gene is one of the genes in mtDNA that is associated with encephalomyopathy. In this blog, we will discuss the symptoms, diagnosis, and cost of the NGS Genetic DNA Test for MT-TR related encephalomyopathy.

Symptoms of MT-TR Gene Encephalomyopathy

The symptoms of MT-TR gene encephalomyopathy can vary from person to person. Some common symptoms include:

• Weakness in the muscles
• Difficulty in walking
• Loss of motor skills
• Seizures
• Developmental delays
• Learning disabilities
• Visual and hearing problems

The symptoms usually begin in childhood, but can also appear in adulthood. They may worsen over time and can be life-threatening.

Diagnosis of MT-TR Gene Encephalomyopathy

The diagnosis of MT-TR gene encephalomyopathy is based on a combination of clinical symptoms and genetic testing. A physical exam and medical history can help identify the symptoms and assess their severity. Genetic testing can confirm the presence of mutations in the MT-TR gene.

The NGS Genetic DNA Test is a comprehensive test that can detect mutations in the MT-TR gene and other genes associated with encephalomyopathy. This test uses Next-Generation Sequencing (NGS) technology to analyze the entire mtDNA sequence and identify any mutations that may be present. The NGS Genetic DNA Test is a non-invasive test that requires only a blood sample.

Cost of NGS Genetic DNA Test for MT-TR Gene Encephalomyopathy

The cost of the NGS Genetic DNA Test for MT-TR gene encephalomyopathy in India is approximately INR 20,000. This test is not covered by insurance and is an out-of-pocket expense. However, the cost may vary depending on the laboratory and location.

Conclusion

MT-TR gene encephalomyopathy is a rare genetic disorder that can cause severe symptoms and affect the quality of life. Early diagnosis and genetic testing can help identify the mutations and provide appropriate treatment and management options. The NGS Genetic DNA Test is a comprehensive and reliable test that can detect mutations in the MT-TR gene and other genes associated with encephalomyopathy. The cost of this test may be a barrier for some patients, but it is a valuable investment in their health and well-being.

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-TR Gene Encephalomyopathy, mitochondrial, MT-TR related NGS Genetic DNA Test