OVERVIEW
Our laboratory offers germline panel testing via a Hereditary Cancer Multi-Gene Panel and a Pediatric Cancer Predisposition Panel. These multi-gene next-generation sequencing panel tests are available for patients known or suspected to be at risk of a cancer predisposition syndrome. For eligibility, indications, and ordering information, see our Hereditary Cancer page.
TEST REQUIREMENTS
For eligible patients:
- Completed requisition form
- 5mL EDTA peripheral blood (see Specimen Guidelines, DNA molecular test type)
For all other patients, please initiate a referral to the Hereditary Cancer Program.
TURN-AROUND TIME
Approximately 42 days from receipt of specimen and completed and signed requisition form.
RESULTS REPORTING
Germline variants are classified according to ACMG Guidelines (Richards (2015) PMID: 25741868) as one of:
- Pathogenic
- Likely Pathogenic
- Variant of Uncertain Significance (VUS)
- Likely Benign
- Benign
Please see our Variant Classification Guidelines for additional details. Benign and Likely Benign variants are not routinely reported. Only Pathogenic or Likely Pathogenic variants are reported for a subset of targeted genes (see below).
GENES TARGETED
Single nucleotide variants, small insertions and deletions, and copy number variants in the entire coding region (+/-10bp adjacent intron) in the following genes:
Hereditary Cancer Multi-Gene Panel
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.
Pediatric Cancer Predisposition Panel
Entire coding region:
AIP:NM_003977; ALK:NM_004304; ATM:NM_000051; BLM:NM_000057; BRCA1:NM_007294 (incl. Intron 13 and 23 hotspots); BRCA2:NM_000059; BRIP1:NM_032043; BUB1B:NM_001211†; CD27:NM_001242†; CD70:NM_001252†; CSF3R:NM_000760†; CTLA4:NM_005214†; CTR9:NM_014633†; DIS3L2:NM_152383; DNAJC21:NM_001012339†; EGLN1:NM_022051†; EGLN2:NM_080732†; ELANE:NM_001972†; ELP1:NM_003640†; ERCC2:NM_000400†; ERCC3:NM_000122†; ERCC4:NM_005236†; ERCC5:NM_000123†; ETV6:NM_001987†; FANCA:NM_000135†; FANCB:NM_001018113†; FANCC:NM_000136†; FANCD2:NM_001018115†; FANCE:NM_021922†; FANCF:NM_022725†; FANCG:NM_004629†; FANCI:NM_001113378†; FANCL:NM_018062†; FANCM:NM_020937†; FAS:NM_000043†; FASLG:NM_000639†; FBXW7:NM_001349798†; FH:NM_000143; GATA2:NM_032638 (incl. intron 4 hotspot); GPC3:NM_004484; GPR161:NM_001375883†; HAVCR2:NM_032782†; HAX1:NM_006118†; ITK:NM_005546†; L2HGDH:NM_024884†; LIG4:NM_206937†; MAD2L2:NM_006341†; MBD4:NM_001276270†; MDH2:NM_005918†; MEN1:NM_000244; MLH1:NM_000249 (incl. 5’ UTR and Intron 12 hotspots); MSH2:NM_000251 (incl. 5’ UTR and promoter); MSH6:NM_000179; PALB2:NM_024675; PAX5:NM_016734†; PHOX2B:NM_003924; POLH:NM_006502†; PTEN:NM_000314 (incl. promoter); RAD51C:NM_058216; RB1:NM_000321; REST:NM_005612†; RET:NM_020975; SAMD9:NM_017654†; SAMD9L:NM_152703†; SBDS:NM_016038†; SH2D1A:NM_002351†; SLX4:NM_032444†; SMARCA4:NM_001128849; SMARCB1:NM_003073; SMARCE1:NM_003079; SUFU:NM_016169; TP53:NM_000546 (incl. Intron 1, 6, and 10 hotspots); TRIM28:NM_005762†; TSC1:NM_000368; TSC2:NM_000548; UBE2T:NM_014176†; VHL:NM_000551; WT1:NM_024426; XPA:NM_000380†; XPC:NM_004628†; XRCC2:NM_005431†
Partial genes:
CDKN1C:NM_000076 (excl. soft masked region in 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); RUNX1:NM_001754 (excl. soft masked region in exon 9); TP53:NM_001126113 (exon 10); TP53:NM_001126114 (exon 10)
Reduced sensitivity targets:
Due to low mapping quality, this assay has reduced sensitivity and may not be able to call variants in the following targets: SLX4:NM_032444 (exon 13); FANCD2:NM_001018115 (exons 1-14, exon 17, exon 22)
* For patients presenting with solid tumours, variants not presumed by nature or already known to be (likely) pathogenic are not reported for these genes.
** For patient presenting with a hematologic malignancy, variants not presumed by nature or already known to be (likely) pathogenic are not reported for these genes.
† The target space for these genes includes both the 5′ and 3′ UTRs. In these regions, only variants already known or presumed to be (likely) pathogenic are reported.
Hematologic Malignancy Predisposition Panel – Adult (Q4 – 2026)
Entire coding region:
ACD:NM_001082486†; ANKRD26:NM_014915 (incl. 5’ UTR); ATG2B:NM_018036†; ATM:NM_000051; BRCA1:NM_007294 (incl. Intron 13 and 23 hotspots); BRCA2:NM_000059; CHEK2:NM_007194; CSF3R:NM_000760†; CTC1:NM_025099†; DDX41:NM_016222†; DKC1:NM_001363†; ELANE:NM_001972†; ERCC6L2:NM_020207†; ERG:NM_182918†; ETV6:NM_001987†; G6PC3:NM_138387†; GATA1:NM_002049†; GATA2:NM_032638 (incl. intron 4 hotspot); GFI1:NM_005263†; GSKIP:NM_016472†; HAX1:NM_006118†; JAGN1:NM_032492†; MBD4:NM_001276270†; NAF1:NM_138386†; NHP2:NM_017838†; NOP10:NM_018648†; PARN:NM_002582†; POT1:NM_015450; RECQL4:NM_004260†; RPA1:NM_002945†; RPA2:NM_002946†; RTEL1:NM_001283009†; SAMD9:NM_017654†; SAMD9L:NM_152703†; SBDS:NM_016038†; SRP72:NM_006947†; TERC:NR_001566; TERT:NM_198253; TINF2:NM_001099274†; TP53:NM_000546 (incl. Intron 1, 6, and 10 hotspots); VPS45:NM_007259†; WAS:NM_000377†; WRAP53:NM_001143992†; ZCCHC8:NM_017612*†
Partial genes:
CEBPA:NM_004364 (excl. soft masked region in exon 1); RUNX1:NM_001754 (excl. soft masked region in exon 9); TP53:NM_001126113 (exon 10); TP53:NM_001126114 (exon 10)
*Variants not presumed by nature or already known to be (likely) pathogenic are not reported for these genes.
† The target space for these genes includes both the 5′ and 3′ UTRs. In these regions, only variants already known or presumed to be (likely) pathogenic are reported.