Genetics and Genomics
Genetics & Genomics in Saskatchewan is a provincial service that supports the diagnosis and management of both acquired and inherited genetic disease. This essential service operates from sites in Regina (RRPL) and Saskatoon (RUH) with some services sent out of province as needed.
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Genetic Resource Centre (GRC), Roy Romanow Provincial Lab (RRPL) Regina
- The GRC provides funding pre-approval and facilitates sample send out for all clinical molecular genetic testing performed outside of Saskatchewan.
- RRPL handles molecular genetic testing for the province including germline cancer genetics.
- All communications with the GRC will be by email at GRC@saskhealthauthority.ca or phone with the lab genetic counsellor at 306-491-9038.
- Requisitions must be completed in FULL, including the ordering physicians name and clinic contact information. If the requisition has a place for a physician signature, you must sign the requisition. Failure to do so will result in the sample not being sent. Blood will be banked until the proper requisition is completed and sent to the Genetics Resource Centre.
- Prior to ordering a genetic test, you may wish to review the Pretest Counselling Information with your patient and ordering approvals (links below).
- Ordering physicians are responsible for disclosing and discussing the results of tests they order with their patients. The Medical Genetics Clinic does not disclose results for tests that we have not ordered. If additional genetic counselling or family testing of pathogenic variants is required, please refer the patient to the Division of Medical Genetics and they will be triaged appropriately.
- Additional testing in other family members (i.e. variant of unknown significance (VUS) testing in parents) may be needed to clarify the proband's genetic test results and is the responsibility of the ordering physician. Performing this follow-up testing in the appropriate family members may expedite their priority to be seen by the Medical Genetics team
- For DNA Banking FAQ, Genetic Resource Centre FAQ, Pretest Counselling Information or Ordering Approvals see RRPL Requisitions and Completion Aids
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Genomics Laboratory, Royal University Hospital (RUH) Saskatoon
- Provides comprehensive genomic testing services in integrated clinical Cytogenetics and Molecular Genetics labs for acquired and inherited genetic disorders including prenatal, postnatal and oncology. Genomics laboratories offer testing services for the whole province of Saskatchewan.
- The Genomics Laboratory at RUH is accredited by the College of Physicians and Surgeons of Saskatchewan (CPSS), directed by board-certified Laboratory Geneticists, and staffed with licensed Clinical Genetics Technologists, Medical Laboratory Technologists and Assistants.
- Cytogenetics section offers screening and diagnostic services for prenatal and postnatal genetic conditions such as congenital anomalies, developmental delay, autism spectrum disorders, infertility etc. Diagnosis and prognosis of hematological malignancies. The techniques utilized include Karyotype, Fluorescence In Situ Hybridization (FISH), Chromosomal Microarray (CMA), and related Molecular techniques such as Rapid Aneuploidy Detection (RAD) by QF-PCR, Maternal Cell Contamination (MCC), and qPCR for Copy Number Variant (CNV).
- Molecular Genetics section provides diagnosis for prenatal and postnatal inherited disorders and rare genetic conditions, utilizing technologies such as qPCR, Sanger sequencing, Multiplex Ligation-dependent Probe Amplification (MLPA), and Next-Generation Sequencing (NGS). Clinical genetic testing services include venous thromboembolism (VTE) – related SNP testing, Duchenne/Becker Muscular Dystrophy (DMD/BMD), Inherited Cardiovascular diseases (Cardiomyopathies, Arrhythmias, and other vascular, lipid disorders), and also rare inherited disorder diagnosis using genome-wide sequencing.