Short Description

NGS genetic DNA test detecets for variant and mutation detection in MT-TL1 gene for MELAS syndrome, MT-TL1 related

PreTest Information

Clinical History of Patient who is going for MT-TL1 Gene MELAS syndrome, MT-TL1 related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MT-TL1 Gene MELAS syndrome, MT-TL1 related NGS Genetic DNA Test gene MT-TL1

Detail Description

MT-TL1 Gene and MELAS Syndrome: Symptoms, Diagnosis and Genetic Testing Cost in India

MT-TL1 gene is a mitochondrial gene that is responsible for the production of a protein called tRNA. This protein is involved in the production of energy in the cells. MT-TL1 gene mutations are associated with several mitochondrial disorders, including MELAS syndrome.

What is MELAS Syndrome?

MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes) syndrome is a rare mitochondrial disorder that affects multiple body systems, including the brain, muscles, and heart. It is caused by mutations in the MT-TL1 gene, which leads to the dysfunction of the mitochondria and the production of energy in the cells.

The symptoms of MELAS syndrome can vary widely, but some common ones include:

• Stroke-like episodes
• Seizures
• Muscle weakness and wasting
• Visual and hearing problems
• Difficulty swallowing
• Heart abnormalities

Diagnosing MELAS Syndrome

Diagnosing MELAS syndrome can be challenging because the symptoms can be similar to those of other conditions. However, there are some diagnostic tests that can help confirm a diagnosis, including:

• Genetic testing: This involves testing for mutations in the MT-TL1 gene.
• Blood and urine tests: These tests can help identify abnormalities in the body's chemistry that are associated with MELAS syndrome.
• Brain imaging: Imaging tests such as MRI can help identify changes in the brain that are associated with MELAS syndrome.

MT-TL1 Related NGS Genetic DNA Test Cost in India

In India, the cost of MT-TL1 related NGS genetic DNA test can vary depending on the laboratory and the location. However, on average, the cost of this test is around INR 20,000.

Conclusion

MT-TL1 gene mutations can lead to several mitochondrial disorders, including MELAS syndrome. Diagnosing this condition can be challenging, but genetic testing and other diagnostic tests can help confirm a diagnosis. If you suspect that you or a loved one may have MELAS syndrome, it's important to talk to a doctor and get a proper diagnosis.

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-TL1 Gene MELAS syndrome, MT-TL1 related NGS Genetic DNA Test