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Visual of a checklist. Genetic testing with next-generation sequencing
Download this PDF to learn how next-generation sequencing can help diagnose specific neuromuscular diseases

Genetic testing can help determine whether you or someone you know has a neuromuscular disease

Many neuromuscular diseases have a genetic origin, meaning they are caused by a change (or mutation) in your genes.

These mutations can lead to a number of problems, depending on what is affected and how crucial it is in the body. In the case of genetic neuromuscular diseases, mutations usually affect the cells in the nerves or muscles.

What is genetic testing?

Genetic testing is a type of medical test used to examine genes. This can help identify any genetic changes that relate to a specific disorder.

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Why do I need genetic testing?

Genetic testing can help explain why you are experiencing certain symptoms and can be used to diagnose a specific disorder. It can also be used to predict whether a genetic disorder will occur – even if you are not yet experiencing any symptoms.

A diagnosis from genetic testing can also provide answers on which treatment or management plan might be most effective for your disorder or your symptoms.

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What does genetic testing involve?

In most cases, only a blood sample is needed.

Ask your doctor for a referral to a neuromuscular specialist and/or neurologist who can order panels of genetic testing based on your symptoms.

Your doctor may refer you to a regional neurologist. There are also several neuromuscular clinics across Canada that may be located close to where you live.

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Do I need to pay for genetic testing?

There may be coverage for some types of genetic testing, but not all tests are covered.

In many cases, genetic testing is covered if it has been ordered by a specialist. You may also qualify for coverage under certain circumstances.

Be sure to ask your doctor and/or specialist about genetic testing.

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Health information contained herein is provided for general educational purposes only. Your healthcare professional is the single best source of information regarding your health. Please consult your healthcare professional if you have any questions about your health or treatment.