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Cytogenetics Laboratory - Patient Requisition Form 2006 marked the 50th anniversary of the publication of the human chromosome number 46. It was also a year of exciting changes for the Calgary Cytogenetics Laboratory. In March, Dr. Mary Ann Thomas joined the Department of Medical Genetics as a clinical geneticist and part-time cytogeneticist. Dr. Shashirekhi Shetty completed her training and was recruited as the Assistant Laboratory Director in June. Both Dr. Shetty and Dr. Thomas successfully completed the CCMG practical examinations in cytogenetics in the Fall and are a welcome addition to the Cytogenetics laboratory. In October 2006, several years of planning and hard work culminated in the relocation of the cytogenetics laboratory into the new Alberta Children's Hospital facility. The Laboratory continues to be the Southern Alberta referral centre for providing prenatal and postnatal constitutional karyotyping and molecular cytogenetic analyses for patients with suspected genetic conditions. Interphase molecular cytogenetics or "rapid karyotyping" for detection of selected aneuploidy is provided for prenatal or postnatal cases where rapid diagnosis is critical for medical management. The laboratory participates in the College of American Pathologists (CAP) external quality assessment program for karyotyping and fluorescence in situ hybridization (FISH). In May 2007, Dr. Tanya Gillan joined the laboratory as a CCMG Cytogenetics fellow-in-training. She completed six months of training before being recruited to the Vancouver General Hospital Cytogenetic laboratory. Service delivery volumes have continued to grow, both in terms of numbers of patients referred for testing and the complexity of testing performed. Abnormality detection rates are a measure of quality of laboratory testing. By routine karyotyping, about 9% of specimens showed a chromosomal abnormality over the reporting period. Interphase FISH analyses showed a trend of increased detection rates, from 19% in 2006 to 29% in 2007, which may be a reflection of improved prenatal screening protocols. Post-natal FISH testing (mainly microdeletions and subtelomere analysis) picked up abnormalities in approximately 11-14% of samples. By specimen type, in 2007, approximately 6% of blood specimens, 7.4% of amniotic fluid samples,30% of CVS and 27% of other tissues (many of which are confirmatory studies) demonstrated an abnormal karyotype. The laboratory continues to provide clinical practicum training for students in the Genetics Technology training programs of the Michener Institute in Toronto and the British Columbia Institute of Technology in Vancouver. Four students successfully fulfilled their practical requirements in cytogenetics during 2006-2007. Dr. Judy Chernos
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