They include:
- biochemical tests on urine, blood and spinal fluid.
- a muscle biopsy to examine the mitochondria and test enzyme levels.
- magnetic resonance imaging (MRI) of the brain and spine.
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There's no single laboratory test that can diagnose a mitochondrial disease. This is why a referral to a medical facility with physicians who specialize in ...
Dec 11, 2014 · The initial evaluation in blood for mitochondrial disease should include complete blood count, creatine phosphokinase, transaminases, albumin, ...
Mitochondrial Disease | Children's Hospital of Philadelphia
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There are various methods to examine if an individual has mitochondrial disease. These include genetic diagnostic testing, genetic or biochemical tests in ...
Jul 29, 2021 · Mitochondrial dysfunction should be considered in the differential diagnosis of any progressive multisystem disorder. A full evaluation for a ...
Diagnostic tests in mitochondrial diseases A physical exam typically includes tests of strength and endurance, such as an exercise test, which can involve ...
For many patients with Mitochondrial Disease, doctors recommend a muscle biopsy. Muscle is in fact a very good tissue to investigate because it is commonly ...
According to the Mitochondrial Care Network, a correct diagnosis is difficult because many common conditions have been linked to unhealthy mitochondria.
The diagnostic process for mitochondrial disease may begin with a set of biochemical tests that, when abnormal, can be indicative of a metabolic disorder.
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