Masking update: As of October 16, 2024, masks are required in patient care areas, patient rooms and waiting rooms. 

Diagnostic Medical Genetics

We perform tests to diagnose inherited conditions that can affect a patient’s own health or pregnancy.
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Our Diagnostic Medical Genetics team specializes in testing for a wide range of hereditary conditions, including prenatal, perinatal and adult-onset genetic conditions. 

Our testing helps physicians understand the genetic factors that contribute to these conditions and improves the care and management of these individuals.

Our testing and reporting are performed by a highly-skilled team of certified medical laboratory technologists, technicians, genetic counsellors, genetic variant analysts, bioinformaticians, molecular geneticists, and cytogeneticists. This collaborative approach ensures the highest standards of accuracy and expertise in every aspect of our services.

In addition to high-quality clinical testing, our team is dedicated to teaching, education, and training.

Cytogenetics

We are committed to upholding the highest standard of care in prenatal and perinatal testing in pregnancies complicated by various factors, including differences identified in a fetus by ultrasound. Accurate prenatal diagnosis contributes to providing the best possible care for each patient, which can include changing obstetric management, delivery planning, and neonatal care.  

Our diagnostic capabilities include quantitative fluorescence polymerase chain reaction (qfPCR) and chromosomal microarray analysis (CMA), which detect large-scale copy number variations and can identify an underlying genetic cause in up to 40 percent of fetuses with structural differences. 

We specialize in diagnosing molar pregnancies with significantly improved precision and also offer blood karyotyping for individuals experiencing infertility and recurrent pregnancy losses. 

Advanced molecular diagnostics

Our laboratory specializes in a diverse array of tests covering hereditary cancer syndromes, tumour biomarkers, and polycystic kidney disease. This testing helps identify affected individuals who may be eligible for targeted therapies and personalized treatments as well as at-risk individuals and families who have an inherited, increased risk for these conditions and would benefit from increased screening.  

Many of these tests use next-generation sequencing (NGS) and sophisticated data analysis. Our laboratory also utilizes technologies such as Sanger sequencing, methylation analysis, and multiplex ligation-dependent probe amplification (MLPA).