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DNA testing on the NHS to fast-track diagnosis for critically ill babies and children

 

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DNA testing on the NHS to fast-track diagnosis for critically ill babies and children

The NHS in England is providing a new form of DNA test capable of rapidly diagnosing rare diseases for critically ill babies and children.

Eighty babies and children have received this new test, with almost half being given a diagnosis for their rare disease. The technique, known as whole exome sequencing, doubles the chance of a diagnosis and can reveal what is wrong with patients in days rather than weeks, reducing waits for worried families.