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Mitochondrial Mutation Detection Comprehensive Panel

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  • MITOCHONDRIAL MUTATION DETECTION COMPREHENSIVE PANEL

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About

blood sample
Sample

BLOOD

Gender
Gender

Both

users
Age group

7 years & above

The mitochondria are considered to be the energy factory of the body. The primary role of mitochondria is to process oxygen and convert the food ingested into energy. Since this organelle is responsible for about 90% of the body's energy production, mitochondrial mutations can be detrimental.

These mutations usually lead to mitochondrial disorders that may occur due to the disruption in the mitochondria's function. Due to this, the body receives less energy, and organ dysfunctions might occur. These dysfunctions may be prevalent in organs like the heart, muscles, and brain, which require high energy to function effectively.

Furthermore, mitochondrial disorders are usually born due to mutations in the mitochondrial DNA (mtDNA) or the nuclear DNA. Additionally, these disorders can also be caused by environmental toxins. 

Some of the most common diseases that are a result of mitochondrial mutations are:

  • Myoclonic epilepsy with ragged red fibres (MERRF)

  • Neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome

  • Leber hereditary optic neuropathy (LHON)

  • Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome

The mitochondria mutation detection comprehensive panel test is used to identify the alterations in the genomic and mitochondrial DNA. It is a standard blood test where the clinical lab technician draws blood from the patient's arm, usually at the bend of the elbow. This blood is stored and analysed to detect the presence of mitochondrial mutations. 

The test is usually done using molecular DNA testing and biochemical methods, depending on factors like age of onset and family history, among others. Additionally, this test is generally targeted at newborns or infants since they are at a higher risk of having mitochondrial disorders. However, this test is for every age group, especially if the following symptoms plague them:

  • Muscle issues like weakness, pain, and intolerance to exercise
  • Learning disabilities
  • Respiratory ailments
  • Increased risk of infection
  • Neurological problems like seizures, migraines, or strokes
  • Vision or hearing problems
  • A build-up of lactate, leading to lactic acidosis
  • Dementia

If untreated, mitochondrial disorders may also lead to severe conditions like diabetes, Alzheimer's, cancer, and muscular dystrophy. However, there is no known treatment for mitochondrial disorders at the moment. This disease is kept in check using supportive therapy. This may include nutritional management, exercise, or vitamin or amino acid supplements.

Moreover, long-term care may require appointments with various neurologists, endocrinologists, ophthalmologists, audiologists, and cardiologists. It is important to consult a doctor as soon as one or more of the mentioned symptoms appear. If left untreated, they can cause life-threatening conditions. As a result, yearly follow-ups with the doctor are advisable to handle this condition better.
 

faqFrequently Asked Questions (FAQs)

A mitochondrial mutation detection comprehensive panel test is used to detect mitochondrial mutations in the patient. It is a standard blood test, and the results are available quickly. Based on the results, the doctor can devise a treatment plan.
The mitochondrial mutation detection comprehensive panel test is a blood test considered to be one of the tests with the least number of complications. At most, there would be slight swelling at the spot where the technician draws blood. However, this swelling fades away without any intervention.
Primary mitochondrial disorders are usually associated with any changes in the genetic material, including mutations or deletions. This genetic information is usually found within the mitochondrial DNA (mtDNA) or in the nuclear DNA. Primarily, it affects the skeletal muscle.
These disorders are usually caused by changes in the mitochondrial DNA or nuclear DNA. Additionally, environmental factors can also contribute to mitochondrial disorders.
Mitochondrial disorders often result in the improper working of the mitochondria, which may increase the risk of various neurodegenerative disorders. Among these, Alzheimer's is one of the most prominent, along with other psychiatric disorders like Parkinson's.
Since mitochondrial mutation detection comprehensive panel test is a detailed procedure, the reports usually take a while. Although the duration of the reports varies according to the lab, most of them have it ready within a period of 12 days.

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The information mentioned above is meant for educational purposes only and should not be taken as a substitute to your Physician’s advice. It is highly recommended that the customer consults with a qualified healthcare professional to interpret test results