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Genetic sequencing

A new DNA test will look for 190 diseases in your newborn’s genetic code

But not all parents may want to know the results. Using a swab of saliva from a newborn’s cheek, a new DNA test will probe the baby’s genes to search for 193 genetic diseases, like anemia, epilepsy, and metabolic disorders.

New genetic test can predict adverse reactions to epilepsy drug

A study led by researchers at RCSI (Royal College of Surgeons in Ireland) has identified a new genetic test that can be used to predict if a patient with epilepsy will develop an adverse reaction to a common anti-epileptic drug. The finding will help inform doctors to prescribe the safest and most beneficial treatment for patients with epilepsy. The study is published in the current edition of the journal Neurology. The research has identified a genetic factor that can be used to predict whether a patient with epilepsy will develop a rash in reaction to a common anti-epileptic drug called phenytoin. Phenytoin is used worldwide and is the most commonly prescribed anti-epileptic drug in developing countries.

DNA test pinpoints cause of teenager’s epileptic seizures, allowing for proper treatment

After years of being told seizures were “just in her head”, a young Australian girl has finally learned what was causing her mystery illness.   DNA sequencing technology was able to confirm 17-year-old Teresa’s condition was due to a defective collagen gene.   But for years a number of doctors had diagnosed her with “mild cerebral palsy”. They didn’t think she had epilepsy and even suggested her attacks “might be psychological”.

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