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Lab Test

Mitochondrial Mutation Panel-2

Mitochondrial Mutation Panel-2

The Mitochondrial Mutation Panel-2 is an advanced diagnostic tool used to identify certain mutations in the mitochondrial DNA that are known to cause a range of mitochondrial disorders. Mitochondria are the powerhouses of the cell, responsible for generating most of the cell's supply of adenosine triphosphate (ATP), used as a source of chemical energy.


  • Profile NameMitochondrial Mutation Panel-2 (LHON, NARP, CPEO, SNHL, DEAF, AMDF)
  • Sample TypeBlood
  • Preparations RequiredNo special preparation is required for this test. However, be sure to inform your healthcare provider of any medications, supplements, or therapies you are currently using.
  • Report Time9 Days

The mutations tested in this panel include those associated with Leber's Hereditary Optic Neuropathy (LHON), Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP), Chronic Progressive External Ophthalmoplegia (CPEO), Sensorineural Hearing Loss (SNHL), Sudden Deafness (DEAF), and Aged Macular Degeneration (AMDF).

This test is crucial for patients who exhibit symptoms of these disorders or have a family history of mitochondrial diseases. The results can aid in the diagnosis and treatment plan, offering a clearer understanding of the patient's condition.

Home Sample Collection Process

1
Book your convenient slot
Book your convenient slot
2
Sample Collection by Phlebotomist
Sample Collection by Phlebotomist
3
Reporting of the sample at lab
Reporting of the sample at lab
4
Download Reports
Download Reports

Note: Home Sample Collection is only for Pathology lab tests.

Frequently Asked Questions

This panel is used to detect specific mutations in the mitochondrial DNA associated with a variety of mitochondrial disorders. If you exhibit symptoms of these disorders, this test can assist in the diagnosis and guide subsequent treatment plans.

This test requires a blood sample, which is usually taken from a vein in your arm. A healthcare provider will clean the site with an antiseptic, then insert a small needle to collect the sample. It is a quick and relatively painless procedure.

No, fasting is not required for the Mitochondrial Mutation Panel-2. However, it's important to stay hydrated and eat normally in the days leading up to the test.

The risks associated with this test are minimal and similar to those of a typical blood draw. These may include slight pain or bruising at the puncture site or light-headedness during or after the blood draw.

Positive results indicate the presence of one or more of the mutations tested in the panel. However, the manifestation and severity of symptoms may vary between individuals, even those with the same mutation. Your healthcare provider can help you understand what these results mean for you.

While this test can detect the presence of certain mutations, it is just one part of the diagnostic process. Other tests, symptoms, and family history are also taken into account when diagnosing a mitochondrial disorder.

While there's currently no cure for mitochondrial disorders, treatments can help manage symptoms and improve quality of life. Treatment plans are personalized and may include dietary adjustments, medication, physical therapy, and regular medical monitoring.

You should consult a geneticist or a specialist in metabolic disorders if your test results are abnormal. They can provide a comprehensive evaluation and guide your treatment plan.

While lifestyle changes can't cure mitochondrial diseases, they can help manage symptoms. Regular exercise, a healthy diet, avoiding exposure to toxins, and maintaining a healthy weight can contribute to overall health and wellness.

No, this test requires a blood sample to be taken by a healthcare professional and should be done in a clinical setting.

This test is not a predictive tool but is used to detect mitochondrial diseases in individuals who are already presenting symptoms.

Coverage depends on your health insurance policy. You should check with your provider to understand what costs you may need to cover.

Having a mutation does not guarantee you will develop symptoms. It is possible to carry a mutation and never develop any symptoms.

Yes, this test can be performed on both adults and children. If a child is showing symptoms suggestive of a mitochondrial disorder, the test can help in diagnosis.

Yes, this panel tests for multiple mutations, and it's possible to have more than one mutation.

The Mitochondrial Mutation Panel-2 offers an effective way to detect the presence of mutations linked to a range of mitochondrial disorders. By understanding the genetic root of these disorders, healthcare providers can deliver a more accurate diagnosis and more effective treatment plan. If you have any concerns about your health, speak with your healthcare provider to see if this test is right for you.

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