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Clinical Genomics (DRAFT)

The Clinical Genomics Laboratory provides full-service molecular testing for inherited conditions as well as and cytogenetic testing for constitutional and acquired chromosome abnormalities.

We provide genetic testing services for the Maritime Provinces and act as a referral site for institutions outside the region.

Our team of professionals consists of board certified (ABMG/CCMG) Clinical Laboratory Scientists, Genetic Counsellors, Medical Laboratory Technologists, and Technicians.

Molecular Genetics – Our lab offers molecular tests that identify changes in genes associated with disease. This service tests prenatal and postnatal samples.

  • Next Generation Sequencing (NGS) to test for panels and single genes
  • Sanger sequencing for known variants
  • Multiplex Ligation-Dependent Probe Amplification (MLPA) for small deletions, duplications and abnormal methylation
  • Fluorescent PCR (fPCR) for nucleotide repeat disorders
  • Rapid Aneuploidy Detection (RAD)
  • Microarray analysis for detecting copy number variants (CNVs)

Cytogenetics – Our lab offers cytogenetic tests aiming at looking at the structure and function of chromosomes. This service tests prenatal, postnatal and cancer samples.

  • Chromosomal karyotyping for constitutional genetic disorders and cancer
  • Fluorescence in situ hybridization (FISH) testing for further investigation of complex karyotype analysis
  • Additionally, the Clinical Genomics Division is the only site in the Maritimes accredited by the Children’s Oncology Group (COG) to perform chromosome analysis on pediatric leukemia samples

Our laboratory works closely and collaborates with the Medical Maritime Genetics Service to develop genetic tests aimed to improve patient care. In addition, the Clinical Genomics service has built partnerships with many research groups and provides teaching opportunities for Dalhousie University medical school students, residents and fellows, as well as clinical placements for students from the Michener Genetic Technology program.

Additionally, our lab refers out tests that are not available in-house to other genetic testing laboratories in Canada and other countries.

For more information about how to order genetic tests and sample requirements, please refer to our Testing Menu. If there are additional questions, please contact our lab at: clinicalgenomics@iwk.nshealth.ca