Genetics & Genomics

Programs

Genetics & Genomics is a provincial service supporting the diagnosis and management of both acquired and inherited genetic disease in Alberta.  This essential service operates from sites in Calgary and Edmonton.  It provides cutting edge diagnostic services and is the backbone of a personalized medicine strategy for the effective use of therapies for disease.

Biochemical Genetics

The function of the Biochemical Genetics Laboratory is to assess metabolic pathways to identify individuals affected with inborn errors of metabolism, to monitor their treatment and determine carrier status.  They assay metabolites and enzymes in body fluids and tissues to identify imbalances in metabolic profiles leading to the identification of where defects in a metabolic pathway have occurred.

Cytogenetics

The focus of the Cytogenetics Laboratory is the analysis of chromosome structure to show genomic losses or gains, chromosome rearrangements and loss of chromosomal integrity in congenital disorders and cancer. In addition to tissue culture and multiple chromosome banding techniques, the laboratory offers fluorescent in situ hybridization (FISH) for a broad range of disorders and chromosomal microarray studies.

Molecular Genetics

The Molecular Genetics Laboratory uses DNA or RNA to confirm a diagnosis, identify a predisposition or carrier status for disease or predict response to treatment.    A wide variety of traditional (e.g. PCR-based assays) and advanced (next generation sequencing) techniques are used to detect sequence and dosage changes.

Newborn Screening

This provincial program screens approximately 55,000 newborns annually for 21 disorders, including 16 metabolic disorders, two endocrine disorders, sickle cell anemia, severe combined immunodeficiency and cystic fibrosis (CF). The newborn screen is carried out on a blood sample collected between 24 hours and 72 hours of age. The screen identifies newborns at high risk of having one of the disorders included in the testing menu. The condition is confirmed by clinical examination and by diagnostic testing.

Genetic Resource Centre

The Genetic Resource Centre (GRC) provides funding pre-approval and facilitates sample send out for the majority of clinical molecular genetic testing performed outside of Alberta.