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Newborn Screening Ontario
Diagnostic Testing

Molecular Diagnostics

Newborn Screening Ontario (NSO) is now offering two new molecular diagnostic testing panels using next-generation sequencing (NGS) technology. As part of a repatriation initiative to reduce costs and expand genetic testing in the province of Ontario, health care providers will now have access to diagnostic testing services from NSO. Please note that these tests are not part of the newborn screening process.

Diagnostic testing for targets of newborn screening  

This panel looks at genes related to the primary and secondary targets of the provincial newborn screening program. 

Please send us the requisition with the the target genes specified.

Please note that we accept samples from patients of all ages.

Diagnostic testing for mitochondrial disorders - Visit the Ontario Mitochondrial Laboratories website

The second NGS panel that NSO has introduced covers nuclear genes linked to mitochondrial disorders. There are also 6 subpanels, taken from the larger panel, available for various observable genetic traits.

Full panel:406 genes associated with mitochondrial disease

  1. Mitochondrial Encephalopathy/Leigh Disease – 119 genes
  2. Complex I deficiency – 35 genes
  3. Complex IV deficiency – 21 genes
  4. Complex II + III + V + Coenzyme Q + PDH deficiencies – 26 genes
  5. mtDNA Depletion and Deletion Panel – 21 genes
  6. Progressive External Ophthalmoplegia (PEO)/Optic Atrophy – 23 genes

This panel has created partnerships between three laboratories in Ontario. The collaborating labs are NSO in Ottawa, London Health Science Centre, and Hamilton Health Sciences. Between all three labs, testing can now be done for nuclear and mitochondrial DNA, and will cover pediatric and adult mitochondrial disorders. The website contains more details for the test available for the 3 sites.  Depending on the test required, samples can be sent to different labs.

Our gene list may change over time. Please visit our website regularly to be aware any changes in our panels!

Please note that our turnaround time is 12 weeks for all tests. Samples from newborns sent for diagnostic testing for Targets Newborn Screening are automatically expedited and our turnaround time is 6 weeks. 

Please send samples to: Newborn Screening Ontario (NSO), 415 Smyth Road, Ottawa (Ontario), K1H 8M8.

For more information about our diagnostic testing or more detailed price list, please contact us at or call 613-738-4209.