Mitochondrial Diseases
OVERVIEW
Hereditary mitochondrial diseases are a group of conditions that affect the mitochondria (structures in each cell responsible for making energy). Mitochondrial disorders are present at any age affecting different body systems, including brain, muscles, heart, liver, nerves, eyes, ears and kidneys with varied severity. Symptoms include developmental delay, weak muscles, diabetes, heart, liver, and/or kidney disease. They are caused by pathogenic variants in the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate energy production. Conditions can involve mitochondrial respiratory chain and thus of oxidative phosphorylation and, in addition, by conditions of other biochemical mechanisms, such as beta-oxidation, mitochondrial fusion and division, and many others. Early identification of individuals at risk can help establish the right clinical management plan.
We offer comprehensive and syndrome-specific panels testing for mitochondrial diseases. The test can offer a molecular genetic diagnosis of a mitochondrial disorder that is observed or predicted in you/your child or a family member.
IMPORTANCE OF GETTING TESTED
If you or a family member has a risk of a mitochondrial disease, identifying the cause can help to take actions to improve the outcome of the disorder. Additionally, family members can be informed and encouraged to also get tested. Our genetic counsellors can provide medical advice.
You have a family history
of mitochondrial diseases
You/your child has a clinical diagnosis
and want to confirm
You/your child has symptoms
that affect multiple, unrelated
systems of the body
POSSIBLE OUTCOMES OF THE TEST
A molecular genetic diagnostic report outlining the results of the sequencing analysis is provided. Changes in DNA sequences (variants) can be detrimental and lead to the development of a cardiac or aortic disorder, including asymptomatic disorders that develop later in life. We will report pathogenic and likely pathogenic variants as well as variants of unknown significance.
Pathogenic and likely pathogenic variants mean the genetic cause of the observed symptoms has been identified and may help determine the right treatment and management plan.
Variants of unknown significance means there was not enough evidence to classify the variant as either pathogenic or neutral. Annual variant reclassification and testing family members is recommended.
It is important to note that a negative result does not guarantee the absence of a disorder or that the disorder does not have a genetic cause. Genetic testing is an evolving field and may not detect all variants or there may not currently be enough evidence to classify all variants that lead to an inherited disease.
