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HGMD enables you to provide better care with better knowledge! – White Paper

By April 16, 2018News
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In 2016, a mother filed a lawsuit relating to the death of her son Christian against a diagnostic company. When Christian began experiencing a series of unrelenting seizures, the company performed a massive battery of tests, including the sequencing of a gene called SCN1A. At the time, the company reported that he had a variant of unknown significance (VUS) there. What the company did not realize was that there was a peer-reviewed study that had identified the same SCN1A mutation in an Australian family one year earlier. Christian received inappropriate treatment and died from a seizure months later.

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