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Molecular Diagnostic Laboratory - Patient Requisition Form The Molecular Diagnostic Laboratory provides molecular genetic testing to Southern Alberta for the purpose of confirming genetic disorders, prenatal diagnosis, presymptomatic testing and risk assessment. It also serves as a national and international reference centre for tests uniquely offered at this site. Analysis is preformed by experienced laboratory scientists using classical and modern molecular technologies and software. The laboratory is accredited by the College of Physicians and Surgeons of Alberta and participates regularly in the molecular genetic proficiency surveys offered by the College of American Pathologists. 3813 requests for molecular testing were received in 2006 and 4082 in 2007. Testing is available for a large number of different genetic disorders, however, there is a constant demand to add new tests as the number of genetic disorders with known causes continues to grow. The laboratory strives to meet this demand through introduction of new commercial kits, referrals to other centres, and in-house development of diagnostic tests. In collaboration with the Cystic Fibrosis Clinic and the Alberta Children's Hospital and Calgary Laboratory Services, a pilot project to evaluate newborn screening for cystic fibrosis was successfully completed in 2006. A high-throughput mutation assay was developed by the TM Biosciences company that includes all the standard CFTR (Cystic Fibrosis) mutations as well as all rare mutations that had been previously detected in our population. Our protocols were accepted by Alberta Health and Wellness and became part of the newborn screening process in April 2007 which will allow rapid initiation of treatment to minimize or prevent lung damage. The laboratory continues to provide molecular training to a variety of trainees. This includes practicum training for the national Genetic Technology training centres, a rotation program for Clinical Genetic residents and training for the Canadian College of Medical Geneticists in Medical Genetics. Dr. Jillian Parboosingh
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