Friday 3 January 2020

New DNA tests mean babies and children can be diagnosed with rare diseases in just days

New DNA tests mean babies and children can be diagnosed with rare diseases in just days The NHS is promising a “genomic revolution,” with rare child diseases diagnosed in days, with far more accuracy than has previously possible.
Up to 700 babies and children a year will be offered a new form of DNA test, which can rapidly identify mutations in critically ill patients.
The Health Secretary said the new technology was “game changing” for the NHS, with experts saying the tests could double the chance of an accurate diagnosis and ensure swift treatment.
The technique, known as “whole exome sequencing” can reveal what is wrong with patients in days rather than weeks, reducing waits for worried families. The Telegraph

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