Genetic testing

Genetic testing examines a person’s DNA from a sample of his or her blood.

  • DNA makes up the genes, which are found on chromosomes. Chromosomes are tiny, thread-like structures inside the nucleus of every cell.
  • DNA has the code for a “master plan” of the body. DNA provides instructions for how the body will develop, grow and function.

Genetic testing also refers to a careful study of a person’s family history to find out how certain characteristics and conditions are inherited (passed on from parent to child).

Genetic testing may be able to identify a genetic mutation for Mitochondrial disease and where that abnormal gene came from. Testing can confirm or exclude a suspected diagnosis of Mitochondrial disease or rule out certain other disorders.

When a genetic mutation is identified, we may be able to tell you the probability for passing the disease to future generations. This can help you make decisions about family planning.

Once a genetic mutation is discovered in a family,other family members may be tested.

The doctor will discuss genetic testing with you. You will need to carefully consider:

  • the potential benefits and harms of genetic testing
  • whether your child is capable of making his or her own decisions
  • what is in the best interests of your child

The main goal of genetic testing is to promote the well-being of your child.

If you have a family history of Mitochondrial disease, you may question whether or not to test your child for the disorder. It is important to weigh the pros and cons.

Children under the age of 16 are not usually tested unless they are having problems with their health or growth and development. At this young age, they may not fully understand or be able to make decisions for themselves. It is likely that nothing that can be done to prevent someone from getting Mitochondrial disease, and it is unclear whether giving treatment before symptoms appear will be of benefit.

Therefore, genetic testing is usually put on hold for children without symptoms, until they are old enough to make their own informed decision.

As many mitochondrial mutations are not yet known, genetic testing can sometimes leave you without answers and with more questions.

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