Molecular Diagnostics

Newborn Screening Ontario (NSO) offers diagnostic molecular testing for genes associated with diseases targeted by newborn screening, as well as for nuclear genes associated with mitochondrial diseases. We accept samples for indications beyond follow up of newborn screening results, including symptomatic diagnosis, cascade family testing, and prenatal diagnosis.

Requisition and gene lists

Our gene lists may change over time, and we are also developing additional testing.  Please visit our website regularly for the most up to date requisition, and to be aware of any changes in our panels or new testing that may become available.

• Molecular requisition [1.36 MB] (Last updated 2023-05-10)
• List of genes on the panels we offer [179.26 KB] (Last updated 2022-11-09)
• Billing form to use for out-of-province requests [69.01 KB] (Last updated 2022-11-09)

Turnaround times

Target turnaround times are as follows:

• Routine requests: 12 weeks
• STAT requests: 6 weeks
• Variant reinterpretation: 2 weeks
• TREC: 1 week

We aim to report as soon as possible and to have all reports issued within the above times. Feel free to contact us for a status update on a report or if clinical circumstances change and issuing a report sooner is needed; we will accommodate to the best of our ability.

Price list

Click here for our price list [233.39 KB].

Contact us

• E-mail: NSOmolecular@cheo.on.ca
• Phone : 613-738-3222 or 1-877-NBS-8330
• Fax : 613-738-0853

Please ship samples to: NSO Specimen Hub, 415 Smyth Road, Ottawa (Ontario), K1H 8M8