What do my genetic test results mean?

A geneticist or genetic counsellor will explain what the results mean. Gene mutations are usually classified as:

Pathogenic (the mutation causes a disease)
Uncertain significance (meaning scientists are not yet sure whether they cause disease)
Benign (harmless, meaning they do not cause disease).

If you received a genetic test result of uncertain significance, follow-up testing or re-evaluation over time may give more clarity. If you are not sure where to start, contact us and we can help direct you.

How is LAMA2-RD diagnosed? What genetic tests are used? Is a muscle biopsy always necessary? What can a brain MRI show? What can a muscle MRI show? How long does it usually take to receive a diagnosis? Which specialists are involved in the diagnosis? Can LAMA2-RD be misdiagnosed? Which other conditions can resemble LAMA2-RD? What is a genetic variant or mutation? How can I obtain a second opinion?

What do my genetic test results mean?

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