The new world-first NHS service should lead to earlier diagnosis and treatment for thousands.
Seriously ill babies in England will be able to be diagnosed and treated for rare conditions more quickly, thanks to a ground-breaking genetic testing service.
His dad, Atsushi, said: "When the doctor came out and told us that they were doing everything they could to keep him alive, what we were facing really dawned on us.By analysing Reuben's genome - looking at billions of letters of DNA code in his body - it was found that mutations in the CSP1 gene meant he could not break down nitrogen and that was causing toxic levels of ammonia in his blood to build up.
His mum, Eleanor, said: "All the care Reuben received would not have happened as quickly and his early diagnosis meant we knew what to expect."There are thought to be thousands of other children who could benefit from the life-saving gene testing.
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