Kristy Dastur

The Cancer Genetics and Genomics Laboratory (CGL) at BC Cancer has designed and validated a custom small gene panel to interrogate genes relevant in the clinical management of patients with chronic lymphocytic leukemia (CLL)/small lymphocytic lymphoma (SLL).

Any patient with a new diagnosis of CLL/SLL or with relapsed/refractory CLL/SLL requiring treatment qualifies for testing, in addition to the current FISH panel.

This Next Generation Sequencing (NGS) panel includes the sequence analysis of selected coding regions of the following genes: TP53, BCL2, PLCG2, BTK, SF3B1, NOTCH1, BIRC3 and MYD88. This NGS panel does not detect copy number or structural variants, so FISH analysis is still necessary to identify copy number changes of 17p (TP53), 11q (ATM), 13q and chromosome 12. Further details of the methods and the genes and regions covered can be found here.

CLL NGS Panel can be ordered using the CGL Lymphoid Requisition found on our Requisitions page. Additional information can be found in our memo.

The Cancer Genetics and Genomics Laboratory (CGL) at BC Cancer will be offering Next Generation Sequencing (NGS) based UBA1 mutation testing for patients with suspected VEXAS* syndrome.

Individuals who are suspected to have VEXAS syndrome based on a combination of clinical and morphologic criteria are eligible for testing, as determined by a hematologist, rheumatologist, and/or hematopathologist.

This NGS test enables the accurate assessment of genomic variants (SNVs and small indels only) over the entire coding region of UBA1. Further details of the methods can be found here.

UBA1 Mutation Testing can be ordered using the CGL Myeloid Requisition found on our Requisitions page. Additional information can be found in our memo.

*VEXAS: Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic

The Cancer Genetics and Genomics Laboratory (CGL) at BC Cancer is offering a droplet digital PCR-based assay for rapid detection of the majority of the common 4bp-insertion mutations within NPM1, facilitating the timely treatment with menin inhibitors.

NPM1 will now be included with the FLT3 ITD/TKD rapid mutation test for newly diagnosed patients with Acute Myeloid Leukemia (AML). This testing will automatically be performed for all patients undergoing FLT3 testing. There are no changes to myeloid panel testing.

Most 4bp insertions of NPM1 between positions c.863 and c.864 are detected (including NPM1 Types A, B and D). Other mutations in NPM1 are not targeted but can be detected by the more comprehensive myeloid panel. The myeloid panel is required to identify the specific type of NPM1 mutation. Further details of the methods and the genes and regions covered can be found here for the NPM1 Mutation Screen and found here for the Myeloid Panel.

Rapid AML Mutation panel for NPM1 mutations can be ordered using the CGL Myeloid Requisition found on our Requisitions page. Additional information on this testing can be found in our memo.