Pathology and Laboratory Medicine Annual Report 2005-2006

Laboratory Genetics
An active collaboration in Genetics has been established with the Lakeridge Health Centre. In Cytogenetics,
this has resulted in rearrangement of workload between Lakeridge Health Centre and Mount Sinai Hospital to
enhance services at both sites. Dr. Elena Kolomietz has been cross-appointed to Lakeridge Health Centre to be the
Laboratory Director of Cytogenetics.
Planning is underway to upgrade the software workstations for Cytogenetics. As well, Dr. Elena Kolomietz has
started exploration on the deployment of gene-based microarrays in Cytogenetics. This technology, comparative
genomic hybridization (CGH), has promise to identify genetic diseases not detectable by conventional Cytogenetics.
Gene probes using fluorescence in situ (FISH techniques) are used to identify genes in both Antenatal Cytogenetics
and in tumour tissues. Mount Sinai Hospital has received a grant from Roche Diagnostics to advance this
technology, with the goal of making the technique more robust and less time consuming.
In Molecular Genetics, an ABI-3130XL automated DNA sequencer was deployed together with DNA sequence and
fragment analysis software from Applied Biosystems, complemented by the Mutation Surveyor and Gene Marker
software packages from SoftGenetics. This equipment has accelerated the diagnosis of genetic abnormalities,
particularly in the Predictive Genetics of Cancer Program.
Pathology and Laboratory Medicine is collaborating with the Hospital for Sick Children and with Solutions by
Sequence, a company associated with Dr. Brenda Gallie, to provide retinoblastoma gene testing throughout
Ontario.
The implementation of Laboratory Information System Module “SoftGene” for Molecular Genetics is underway
with a “go live” schedule for late 2007.
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