Short Description

NGS genetic DNA test detecets for variant and mutation detection in MT-TS1 gene for MERRF/MELAS overlap syndrome, MT-TS1 related

PreTest Information

Clinical History of Patient who is going for MT-TS1 Gene MERRF/MELAS overlap syndrome, MT-TS1 related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MT-TS1 Gene MERRF/MELAS overlap syndrome, MT-TS1 related NGS Genetic DNA Test gene MT-TS1

Detail Description

MT-TS1 Gene MERRF/MELAS Overlap Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

MT-TS1 gene mutations are responsible for a range of mitochondrial diseases, including MERRF (myoclonic epilepsy with ragged red fibers) and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). In some cases, patients can present with a combination of symptoms from both syndromes, known as the MT-TS1 gene MERRF/MELAS overlap syndrome.

Symptoms of MT-TS1 Gene MERRF/MELAS Overlap Syndrome

The symptoms of MT-TS1 gene MERRF/MELAS overlap syndrome can vary from patient to patient, but typically include:

• Myoclonus (involuntary muscle jerking)
• Epileptic seizures
• Ataxia (lack of muscle coordination)
• Mitochondrial myopathy (muscle weakness)
• Lactic acidosis (high levels of lactic acid in the blood)
• Stroke-like episodes
• Migraine headaches
• Hearing loss
• Cognitive impairment

These symptoms can present at different ages and with varying severity. Some patients may only experience a few symptoms, while others may have all of them.

Diagnosis of MT-TS1 Gene MERRF/MELAS Overlap Syndrome

Diagnosis of MT-TS1 gene MERRF/MELAS overlap syndrome can be challenging, as the symptoms can overlap with other mitochondrial diseases and non-mitochondrial disorders. However, there are some tests that can help with the diagnosis:

• Genetic testing: A blood or saliva sample can be used to analyze the MT-TS1 gene for mutations. This can help confirm a diagnosis and identify carriers of the gene mutation.
• Electroencephalogram (EEG): This test records the electrical activity of the brain and can help identify seizures.
• Muscle biopsy: A small sample of muscle tissue can be taken and examined under a microscope for signs of mitochondrial disease.
• Blood lactate test: This test measures the level of lactic acid in the blood, which is often elevated in mitochondrial disease.
• Brain imaging: MRI or CT scans can help identify stroke-like episodes or other abnormalities in the brain.

NGS Genetic DNA Test Cost for MT-TS1 Gene MERRF/MELAS Overlap Syndrome

Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once. This can be useful for diagnosing mitochondrial diseases, as mutations can occur in many different genes. The cost of NGS genetic DNA testing for MT-TS1 gene MERRF/MELAS overlap syndrome in India is typically around INR 20,000.

It is important to note that genetic testing may not be covered by insurance, and out-of-pocket costs can vary. It is recommended to check with the testing facility and insurance provider for more information.

Conclusion

MT-TS1 gene mutations can cause a range of mitochondrial diseases, including MERRF, MELAS, and the overlap syndrome. Symptoms can vary and diagnosis can be challenging, but genetic testing and other diagnostic tests can help confirm a diagnosis. NGS genetic DNA testing for MT-TS1 gene MERRF/MELAS overlap syndrome in India typically costs around INR 20,000.

Early diagnosis and management of mitochondrial diseases can improve outcomes and quality of life for patients. If you or a loved one are experiencing symptoms, it is important to speak with a healthcare provider for further evaluation and testing.

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-TS1 Gene MERRF/MELAS overlap syndrome, MT-TS1 related NGS Genetic DNA Test