Short Description

This test is useful for elucidation of mitochondrial mutations linked to the mitochondrial disease MELAS. Symptoms typically begin in childhood and may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. MELAS can be inherited from the mother as only females pass mitochondrial DNA to their children. Rarely MELAS can result from a new mutation not inherited from the mother.

PreTest Information

Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Detail Description

MITOCHONDRIAL ENCEPHALOMYOPATHY LACTIC ACIDOSIS AND STROKE-LIKE EPISODES (MELAS) MUTATION DETECTION Test Cost INR 7500: Symptoms and Diagnosis

MELAS, or Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like Episodes, is a rare genetic disorder that affects the body's energy production system. It is caused by a mutation in the DNA of mitochondria, which are the energy-producing structures in our cells. This mutation affects the way our bodies produce energy, leading to a range of symptoms that can be severe and debilitating.

Symptoms of MELAS

The symptoms of MELAS can vary widely from person to person, but they typically begin in childhood or early adulthood. The most common symptoms include:

• Seizures
• Headaches
• Muscle weakness and pain
• Difficulty speaking and swallowing
• Vision and hearing problems
• Stroke-like episodes
• Lactic acidosis

These symptoms can be progressive, meaning they get worse over time. In some cases, the symptoms may be mild and manageable, while in others they can be severe and disabling.

Diagnosis of MELAS

Diagnosing MELAS can be challenging because the symptoms are so varied and can resemble other conditions. However, there are several tests that can be used to help diagnose the condition:

• Blood tests to check for high levels of lactic acid
• Genetic testing to look for the specific mutation that causes MELAS
• Muscle biopsy to look for abnormalities in the mitochondria
• Brain imaging to look for stroke-like episodes

MELAS Mutation Detection Test Cost

The MELAS mutation detection test is a genetic test that looks for the specific mutation that causes MELAS. This test can be done using a blood sample or a cheek swab, and it typically costs around INR 7500 in India.

If you or a loved one is experiencing symptoms of MELAS, it is important to speak with a doctor as soon as possible. Early diagnosis and treatment can help manage symptoms and improve quality of life.

At DNA Labs India, we offer a range of genetic tests, including the MELAS mutation detection test. Our tests are accurate, reliable, and affordable, and our team of experts is dedicated to providing the highest quality care to our patients. Contact us today to learn more about our services and how we can help.