A new way of conducting DNA testing for rare diseases and critically ill babies and children is being provided by the NHS as part of its Long Term Plan.
Whole Exome Sequencing
Known as ‘whole exome sequencing’ the new technique looks to use world-leading technology to improve care for the sickest infants. So far, 80 babies and children have received the new test, with almost half of them being given a rare disease diagnosis.
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