We provide high throughput, targeted and whole genome sequencing in a CAP, DAP and ISO27001 certified laboratory. Our combination of scientific, technical, informatic and clinical expertise means  you can be confident that our data and diagnostics are of the highest quality and stored in Canadian servers.

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Clinically accredited germline whole genome available for

  • Alignment deliverable for collaborator to analyze
  • Gene panel subsetting for small and copy number variant reporting (see Hereditary Cancer Program panel)
  • Additional analysis types or sub set panels can be validated, please contact SOW@bcgsc.ca to discuss

In collaboration with the Cancer Genetics and Genomics Laboratory  https://cancergeneticslab.ca/hereditary/ the Hereditary Cancer Program panel is available to people across Canada.

Target Space:

Single nucleotide variants, small insertions and deletions, and copy number variants in the entire coding region (+/-10bp adjacent intron) in the following genes.

Entire coding region:

AIP:NM_003977*; ALK:NM_004304*; APC:NM_000038 (incl. promoter 1A); ATM:NM_000051; AXIN2:NM_004655; BAP1:NM_004656*; BARD1:NM_000465*; BLM:NM_000057*; BMPR1A:NM_004329; BRCA1:NM_007294 (incl. Intron 13 and 23 hotspots); BRCA2:NM_000059; BRIP1:NM_032043; CASR:NM_000388*; CDC73:NM_024529*; CDH1:NM_004360; CDK4:NM_000075; CDKN1B:NM_004064*; CDKN2A:NM_000077; CHEK2:NM_007194; CTNNA1:NM_001903*; DICER1:NM_177438*; DIS3L2:NM_152383*; EGFR:NM_005228*; FH:NM_000143*; FLCN:NM_144997*; GATA2:NM_032638 (incl. intron 4 hotspot)*; GPC3:NM_004484*; HOXB13:NM_006361; HRAS:NM_005343*; KIT:NM_000222*; MAX:NM_002382*; MEN1:NM_000244*; MET:NM_000245 (incl. Intron 13)*; MLH1:NM_000249 (incl. 5’UTR and Intron 12 hotspots); MSH2:NM_000251 (incl. 5’ UTR and promoter); MSH6:NM_000179; MUTYH:NM_001128425; NF1:NM_001042492; NF2:NM_000268*; NTHL1:NM_002528; PALB2:NM_024675; PDGFRA:NM_006206*; PHOX2B:NM_003924*; POT1:NM_015450*; PRKAR1A:NM_002734*; PTCH1:NM_000264*; PTEN:NM_000314 (incl. promoter); RAD51C:NM_058216; RAD51D:NM_002878; RB1:NM_000321*; RET:NM_020975*; SDHAF2:NM_017841*; SDHB:NM_003000*; SDHC:NM_003001*; SDHD:NM_003002*; SMAD4:NM_005359 (incl. promoter); SMARCA4:NM_001128849*; SMARCB1:NM_003073*; SMARCE1:NM_003079*; STK11:NM_000455; SUFU:NM_016169*; TERC:NR_001566*; TERT:NM_198253*; TMEM127:NM_017849*; TP53:NM_000546 (incl. Intron 1, 6, and 10 hotspots); TSC1:NM_000368*; TSC2:NM_000548*; VHL:NM_000551*; WT1:NM_024426*

Partial Genes:

APC:NM_001127511 (promoter 1B and exon 1); CDKN1C:NM_000076 (excl. soft masked region in exon 1)*; CDKN2A:NM_058195 (exon 1); CEBPA:NM_004364 (excl. soft masked region in exon 1)*; MITF:NM_000248 (codon 318; CNVs not called)*; MSH3:NM_002439 (excl. soft masked region in exon 1); PMS2:NM_000535 (exons 1-11); POLD1:NM_001256849 (exons 8-13; CNVs not called); POLE:NM_006231 (exons 9-14; CNVs not called); RUNX1:NM_001754 (excl. soft masked region in exon 9)*; SDHA:NM_004168* (excl. exon 14; CNVs not called); TP53:NM_001126113 (exon 10); TP53:NM_001126114 (exon 10)

Copy-number only:

EPCAM:NM_002354; GREM1:NM_013372

* Variants not presumed by nature or already known to be (likely) pathogenic are not reported for these genes.

A list of ACMG 1, 2 and 3 variants with clinical interpretation will be reported.

Referrals for this assay must be requested through BC Cancer's Hereditary Cancer Program.

If ordering from outside of British Columbia, please contact us for details and requisition forms.

The Myeloid Panel detects small mutations associated with acute myeloid leukemia, myeloproliferative neoplasms and myelodysplastic syndromes, in the following 51 genes:

ASXL1, BCOR, BRAF, CALR, CBL, CEBPA, CSF3R, DDX41, DKC1, DNMT3A, ETV6, EZH2, FLT3, GATA2, HRAS, IDH1, IDH2, JAK2, KDM6A, KIT, KRAS, MPL, NF1, NPM1, NRAS, PHF6, PIGA, PRPF40B, PTEN, PTPN11, RAD21, RTEL1, RUNX1, SETD2, SF1, SF3A1, SF3B1, SH2B3, SMC1A, SMC3, SOCS3, SRSF2, STAG2, TERC, TERT, TET2, TP53, U2AF1, U2AF2, WT1, ZRSR2.

Copy number variants are detected in the following 2 genes:

FLT3, KMT2A (MLL)

If ordering within British Columbia, please refer to the Cancer Genetics Lab website for details including turn around times.

If ordering from outside of British Columbia, please contact us for details and requisition forms.

The development of our next-generation sequencing assay is described in Bosdet et al. 2013.

The Oncopanel detects mutations with known occurrence in the development of solid tumours within the following 73 genes:

AKT1, ALK, APC, AR, ARID1A, ATM, AXIN2, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, CDH1, CDK12, CDK4, CDKN2A, CHD1, CHEK1, CHEK2, CIC, CTNNB1, EGFR, ERBB2 (HER2), ERBB3 (HER3), ERCC2, FBXW7, FOXA1, FUBP1, GNA11, GNAQ, HOXB13, HRAS, HSD3B1, IDH1, IDH2, KIT, KMT2D, KRAS, MAP2K1 (MEK1), MED12, MET (HGFR), MLH1, MSH2, MSH3, MSH6, MUTYH, MYC, NF1, NKX3-1, NRAS, NTHL1, PALB2, PDGFRA, PIK3CA, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, ROS1, SDHA, SDHB, SDHC, SDHD, SMAD4, SPOP, STK11, TP53, ZFHX3.

If ordering within British Columbia, please refer to the Cancer Genetics Lab website for details including turn around times.

If ordering from outside of British Columbia, please contact us for details and requisition forms.

The development of our next-generation sequencing assay is described in Bosdet et al. 2013.

The GSC is currently validating the TSO500 panel. Once validated, the TSO500 panel will replace the oncopanel.

The Prostate Cancer circulating tumour DNA (ctDNA) Panel detects small mutations and copy number variants in the following 3 genes:

ATM, BRCA1, BRCA2.

Germline small mutations affecting these genes are also detected in constitutional blood.

If ordering within British Columbia, please refer to the Cancer Genetics Lab website.

If ordering from outside of British Columbia, please contact us for details and requisition forms.

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