A lifesaving DNA test for critically ill children with unexplained diseases is being rolled out on the NHS.
Many genetic illnesses can leave babies disabled if undiagnosed.
The new “whole exome sequencing” blood test will boost diagnosis rates by screening for a range of mutations all at once.
Lauren Dunn’s son Henry was diagnosed with Costello syndrome after months in hospital.
Lauren, of Exeter, said: “Without the exome sequencing, Henry’s diagnoses and treatment of rhabdomyosarcoma and liver cancer would likely have been delayed.”
So far 80 young patients have had the test, developed by the South West Genomic Laboratory Hub in Exeter, with plans to expand to around 700 children per year.
The test costs £2,000 a time. Simon Stevens, head of NHS England, said: “Once again, the NHS is at the forefront of the genomic revolution, with patients in England the first to be routinely offered this cutting-edge treatment.”
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