Optical Genome Mapping

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.

Panel Testing result delay

September 11, 2024 – There have been some run quality failures that are currently under investigation, leading to delays in some patient reports.

In the meantime, cases received with indications including Colon Cancer, GIST, or Melanoma will be reflexed to the Focus Panel testing which covers many of the clinically actionable gene mutations.

For Prostate and Ovarian cases Oncopanel cases, and for Myeloid Panel cases, an alternative assay is not currently available that assesses the clinically actionable genes, however these patients will be prioritized once routine testing resumes.

All mainstream hereditary multi-gene testing will be tested at Ambry Genetics (California, USA). Impacted cases are expected to be completed within standard turnaround times. For questions or concerns related to mainstream genetic testing please email [genetic.counsellor at bccancer.bc.ca].

The Cancer Genetics and Genomics Laboratory is committed to reporting quality results and will issue patient results as soon as the data becomes available. For questions or concerns about specific patient testing, please email [cancergeneticslab at bccancer.bc.ca]. Updates on the status of panel testing will be posted on this page.

Dr. Stephen Yip, MD, PhD, FRCPC
Medical Director

Cancer Genetics and Genomics Laboratory reports are now viewable in CareConnect!

Reports have been uploaded dating back to Dec 2023

How to view reports in CareConnect:

  • Click “LABS” tab
  • Click “REGIONAL LABS” tab
  • Result Headings
    • COLLECTION DATE = Date report is issued
    • TEST TYPE = BCCA Cytogenetics or BCCA Molecular Genetics
    • SPECIMEN and OUT-OF-RANGE = blank
    • ORDERING PROVIDER = provider who requested the test
    • REPORTING LAB = BC Cancer Agency
    • TEST STATUS = Completed

For information on CareConnect and how to request access, please visit: http://www.phsa.ca/health-professionals/clinical-tools-applications/careconnect

Should you wish to receive reports exclusively through CAIS/CST Cerner/CareConnect and discontinue receipt of a mailed paper copy, please complete this form.

PREDiCTm study changes

CLOSED – Focus panel testing for pancreatic and biliary tract tumours will no longer be accepted after April 26, 2024

OPEN – Sarcoma and head & neck squamous cell carcinoma will still be funded through PREDiCTm, and can be requested on the updated PREDiCTm study requisition found here

Standard of Care – Thyroid and all salivary cancers are standard of care and can be requested on the CGL Solid Tumour Molecular requisition found here

DPYD Screening

The Cancer Genetics and Genomics Laboratory (CGL) at BC Cancer will begin offering DPYD testing for the entire province effective March 1, 2023. DPYD screening is recommended for patients whose treatment plans include 5-fluorouracil (5FU) or capecitabine. Additional details regarding this new test can be found in the memo

Acute Myeloid Leukemia MRD testing

The Cancer Genetics and Genomics Laboratory (CGL) at BC Cancer will begin offering minimal/measurable residual disease (MRD) testing for select patients with Acute Myeloid Leukemia (AML) starting the week of April 11, 2022. Key points regarding this new testing are outlined in the memo below.