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Newborn Screening Ontario
Diagnostic Testing

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.

NSO also offers diagnostic testing for screen positive babies and monitoring for patients with metabolic diseases (e.g. Phe monitoring for PKU, SUAC monitoring for Tyrosinemia). These tests are performed on dried blood spot samples. Please view the requisition for diagnostic and/or monitoring analysis or the collection guide for monitoring samples for additional information