About Genetic Testing

Getting diagnosed for CHD2 typically involves a combination of genetic testing, medical history review, and a physical examination.

  1. Genetic testing: A blood sample will be taken and sent to a laboratory for genetic analysis. This test can confirm the presence of a CHD2 mutation.
  2. Medical history review: A healthcare professional will review your medical history, including any previous seizures or neurological symptoms you may have experienced.
  3. Physical examination: A healthcare professional will perform a physical examination to check for any signs or symptoms of CHD2.
  4. Neurological examination: A healthcare professional will perform a neurological examination to check for any neurological symptoms, such as seizures or developmental delays.
  5. Imaging studies: Imaging studies like MRI or CT scan may be done to check for any structural abnormalities in the brain.
  6. EEG: An EEG (electroencephalogram) may be done to check for any abnormal electrical activity in the brain.

It is important to note that a diagnosis of CHD2 can only be confirmed through genetic testing, and that other tests are used to support the diagnosis and understand the effects of the mutation.

Invitae Genetic Testing*

Genedx Genetic Testing*

* A patient would need a referral to get genetic testing in order to test for a genetic abnormality.

About Genetic Testing and Epilepsy

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Ongoing Studies

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RARE-X Study

Participating in a data collection program is one of the most important things that families with a child with CHD2-related neurodevelopmental disorders can do.

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CHD2 In Adults

This study aims to understand seizures, communication and daily living of adults with CHD2 mutations.

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Natural History Studies (NHS) are critical to the drug development process. Ciitizen has developed a new method to make this process easier.

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