The Cancer Genetics and Genomics Laboratory (CGL) at BC Cancer Vancouver has recently received full accreditation from the Diagnostic Accreditation Program (CPSBC) for Optical Genome Mapping (OGM) using the Bionano platform. In addition to performing a karyotype, when the appropriate specimens are received (see sample requirements in the attached PDF), OGM will also be performed for all hematological malignancies where karyotype is indicated, allowing for a higher resolution whole genome analysis.
This means that two CGL reports – one for karyotype and one for OGM – will be issued for a comprehensive chromosomal analysis in acute myeloid leukemia, myelodysplastic disorders, and myeloproliferative disorders. This technology does not detect sequence-level DNA mutations and so a Myeloid Panel is still necessary for these patients when indicated.
Since OGM has a higher resolution, more abnormalities may be reported than those identified by karyotype analysis. Copy number variants (CNVs) > 5Mb will be reported within all areas of the genome, while smaller CNVs will be reported within a panel of genes relevant to the disease in question. All variants will be interpreted and tiered using the same classification system as our Myeloid Panel. Important details regarding this testing are in the attached PDF.