The test has been developed by the South West Genomic Laboratory Hub in Exeter. 80 young patients have had the test already and there are plans to expand it 700 per year
A lifesaving DNA test for critically ill children with unexplained diseases is being rolled out on the NHS.The new “whole exome sequencing” blood test will boost diagnosis rates by screening for a range of mutations all at once.Lauren, of Exeter, said: “Without the exome sequencing, Henry’s diagnoses and treatment of rhabdomyosarcoma and liver cancer would likely have been delayed.”
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