Diagnostic Medical Genetics

Cytogenetics

The cytogenetic laboratory uses the highest standard of care to diagnose prenatal and perinatal conditions in pregnancies that are complicated by fetal anomalies. Accurate prenatal diagnosis is crucial for effective obstetric management, delivery planning and neonatal care. It is also important for assessing the risk of a recurrence of genetic conditions.

Our diagnostic capabilities include quantitative fluorescence polymerase chain reaction and chromosomal microarray analysis, which detect large-scale copy number variations. These tests can identify an underlying genetic cause in up to 40 per cent of fetuses with structural abnormalities.

In addition to these services, our laboratory specializes in diagnosing molar diseases with an improved precision that leads to better patient outcomes.

Our laboratory also offers classical karyotyping services that play a vital role in evaluating infertility and recurrent pregnancy loss. These services help physicians understand the genetic factors that contribute to these conditions. This, in turn, helps them provide more effective patient care. 

Advanced molecular diagnostics

We offer clinical molecular diagnostic services for the Greater Toronto Area, the rest of Ontario and across various jurisdictions in Canada. Our laboratory specializes in a diverse array of tests covering hereditary cancer, tumour biomarkers and polycystic kidney disease. Many of these tests use next-generation sequencing and sophisticated data analysis.  

Our testing and reporting are done by a highly skilled team of certified medical laboratory technologists, genetic counselors, genetic analysts, bioinformaticians, molecular pathologists and clinical molecular geneticists. This collaborative approach ensures the highest standards of accuracy and expertise in every aspect of our services.