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.
Click here for our molecular requisition (Last updated 2023-11-22)
Click here for a list of the genes on the panels we offer (Last updated 2022-11-09)
Click here for the billing form to use for out-of-province requests (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.
Contact Us
E-mail: NSOmolecular@cheo.on.ca
Phone : 613-738-3222 or 1-877-NBS-8330
Fax : 613-738-4801
Please ship samples to: NSO Specimen Hub, 415 Smyth Road, Ottawa (Ontario), K1H 8M8