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Diagnostic Testing

In addition to performing routine ‘screening’ tests for newborns in Ontario, Newborn Screening Ontario (NSO) also offers ‘diagnostic’ testing in the following areas.

  • Molecular testing: NSO offers next-generation sequencing (NGS) panels to look at genes related to targets of the provincial newborn screening program and to examine nuclear genes involved in mitochondrial disorders.
  • Biochemical testing: NSO offers a comprehensive set of diagnostic biochemical tests on a variety of sample types.

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