The Importance of Genetic Testing 

A little intro, why is genetics testing important to our community?

Who can be tested?

Those with an unknown cause. It is NOT too late for adults with LGS to have testing.

Why would you get a genetic test?

One-quarter of those tested are found to have a cause. 12-50% of patients had their treatment changed when a genetic cause was found.

What are the types of tests?

An epilepsy panel looks at 300-500 genes. Whole exome sequencing can be reviewed and reinterpreted over a period of years as more epilepsy-related gene mutations are discovered.

Where do I go for genetic testing?

Start with a conversation with your loved one’s neurologist and/or speak with a geneticist or genetic counselor. 

 1.Structural- a gene associated with specific abnormalities of brain development such as Tuberous Sclerosis 1 & 2.

 2. Metabolic- a gene associated with underlying metabolic disorders such as creatine metabolism disorder.

 3. Genetic- a gene associated with neither of the above. The list is growing and they usually are de novo variants. De novo meaning ‘new’ or being seen for the first time in the family member.

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