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Lab Test

MELAS-Mutation Detection

MELAS, an acronym for Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes, is a rare genetic disorder that predominantly affects the nervous system and muscles. The MELAS-Mutation Detection test is a genetic test used to confirm a diagnosis of MELAS. It identifies mutations in mitochondrial DNA, specifically the m.3243A>G mutation in the MT-TL1 gene that is most commonly associated with MELAS.

  • Profile Name: MELAS-Mutation Detection
  • Sample Type: Blood
  • Preparations Required: There are no specific instructions for this test. Normal eating and drinking habits can be maintained. No fasting is required.
  • Report Time: 9 Days

MELAS is part of a larger group of disorders known as mitochondrial myopathies, characterized by a deficiency in the energy production within the body's cells. Since mitochondria are responsible for over 90% of the energy needed by the body to sustain life and support organ function, any mutations affecting these organelles can lead to a range of symptoms and complications.

The clinical manifestations of MELAS often begin in childhood, with features including recurrent headache, loss of appetite, vomiting, and seizures. Over time, individuals with MELAS may experience muscle weakness (myopathy), nervous system impairment leading to problems with movement and balance (ataxia), hearing loss, and abnormalities affecting multiple organ systems.

Home Sample Collection Process

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2
Sample Collection by Phlebotomist
Sample Collection by Phlebotomist
3
Reporting of the sample at lab
Reporting of the sample at lab
4
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Frequently Asked Questions

The MELAS-Mutation Detection test identifies specific genetic mutations in the mitochondrial DNA associated with MELAS syndrome. The most common mutation is m.3243A>G in the MT-TL1 gene.

Individuals who show signs and symptoms suggestive of MELAS or have a family history of the syndrome should consider getting tested.

The test is generally performed on a blood sample.

No special preparation is required for the test. Normal eating and drinking habits can be maintained.

The test involves DNA sequencing to detect mutations in the MT-TL1 gene.

A positive result indicates the presence of a MELAS mutation, confirming the diagnosis.

Yes, the test can be performed during pregnancy. However, you should discuss this with your healthcare provider.

Yes, if you or your partner carries a MELAS mutation, you may wish to consult a genetic counselor to understand the implications for future pregnancies.

There is currently no cure for MELAS. However, treatments can help manage symptoms and slow the progression of the disease.

As a genetic disorder, MELAS cannot be prevented. However, understanding your genetic risk can help in managing the condition.

Other tests that might be used include muscle biopsy, genetic testing for other mitochondrial diseases, and imaging studies.

There's minimal risk associated with taking this test. It requires a simple blood draw, similar to routine blood tests.

Genetic tests are highly accurate. However, a negative result does not completely rule out the possibility of MELAS if clinical symptoms suggest the disorder.

Yes, not everyone who carries a MELAS mutation will show symptoms. This is referred to as "reduced penetrance."

MELAS is a mitochondrial disorder, meaning it's passed down from mother to child. If a father carries the mutation, he cannot pass it on. However, all children of a mother who carries a MELAS mutation can inherit the mutation.

MELAS is a complex disorder with a wide range of potential symptoms and impacts. Understanding the role of genetic mutations in MELAS and their detection is crucial in managing this disorder. If you or your loved ones exhibit signs of MELAS, it is essential to consult a healthcare provider for advice and potential genetic testing. Early diagnosis and intervention can help manage symptoms and improve the quality of life for those affected by this syndrome.

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