Genotyping

The genotyping laboratory at the Pharmacogenomics Centre operates under Good Laboratory Practice/ Good Clinical Laboratory Practice (GLP/GCLP) standards and provides services to clients in the academic, industrial, and pharmaceutical communities. All operations are conducted following Standard Operating Procedures (SOP) and all experiments are documented in a Laboratory Information Management System (LIMS). The Centre offers different technologies for genotyping of SNPs (Single Nucleotide Polymorphisms), Indels (Insertion and deletion polymorphisms) and CNVs (Copy Number Variation).

Agena Bioscience CSP Logo

Having been a close collaborator to the pharmaceutical industry for many years, the Pharmacogenomics Centre has developed a thorough expertise in assay validation respecting the highest quality standards required by regulatory agencies (CAP-CLIA, ISO). The validation level of custom and commercially available assays can be modulated on the nature and requirements of individual projects. As part of its core expertise, the Pharmacogenomics Centre also offers genotyping project evaluation and planning. The Pharmacogenomics Centre is a Agena Bioscience Certified Service Provider (CSP) in the area of genotyping on the Agena Bioscience platform.

Genotyping Core Expertise

  • MassArray Custom Assay Development, Genotyping, Data Analysis and Complete Data Reporting (up to 400 loci) (link).
    • iPLEX Chemistry
  • LightCycler Custom Assay Development, Genotyping, Data Analysis and Complete Data Reporting (Up to 3 loci)
    • TaqMan assay (link)
  • Assay Validation
    • Basic Validation (Global Assay Accuracy and Limit of Detection)
    • Clinical grade assay validation (Accuracy, sensitivity, specificity, limit of detection, reproducibility, reportable range and reference range)
  • ADME (Absorption, Distribution, Metabolism and Excretion) genes genotyping, interpretation and detailed reporting on ADME genes activities
    • MHI-ADME iPLEX Pro Panel V2.0 (link to Panel Content)
        • Panel Content :
      Gene SNP Variant
      Gene SNP Variant
      ABCB1 rs1045642 3435C>T
      ABCG2 rs2231142
      ANKK1 rs1800497 Taq1A
      APOE rs429358 ε4
      APOE rs7412 ε2
      COMT rs4680 472G>A
      CYP1A2 rs12720461 *1K
      CYP1A2 rs2069514 *1C
      CYP1A2 rs56107638 *7
      CYP1A2 rs72547513 *11
      CYP1A2 rs762551 *1F
      CYP2B6 rs2279343 *4
      CYP2B6 rs28399499 *18
      CYP2B6 rs3745274 *6
      CYP2C19 rs12248560 *17
      CYP2C19 rs28399504 *4
      CYP2C19 rs41291556 *8
      CYP2C19 rs4244285 *2
      CYP2C19 rs4986893 *3
      CYP2C19 rs56337013 *5
      CYP2C19 rs72552267 *6
      CYP2C19 rs72558186 *7
      CYP2C8 rs10509681 *3
      CYP2C8 rs1058930 *4
      CYP2C8 rs11572080 *3
      CYP2C8 rs11572103 *2
      CYP2C9 rs1057910 *3
      CYP2C9 rs1799853 *2
      CYP2C9 rs2256871 *9
      CYP2C9 rs28371685 *11
      CYP2C9 rs28371686 *5
      CYP2C9 rs56165452 *4
      CYP2C9 rs72558187 *13
      CYP2C9 rs72558190 *15
      CYP2C9 rs7900194 *8
      CYP2C9 rs869277704 (rs72558188) *25
      CYP2C9 rs9332130 *10
      CYP2C9 rs9332131 *6
      CYP2C9 rs9332239 *12
      CYP2D6 rs1065852 *10
      CYP2D6 rs1135840 *2
      CYP2D6 rs16947 *2
      CYP2D6 rs201377835 (rs5030863) *11
      CYP2D6 rs28371706 *17
      CYP2D6 rs28371725 *41
      CYP2D6 rs28371735 *36
      CYP2D6 rs35742686 *3
      CYP2D6 rs3892097 *4
      CYP2D6 rs5030655 *6
      CYP2D6 rs5030656 *9
      CYP2D6 rs5030862 *12
      CYP2D6 rs5030865 *14
      CYP2D6 rs5030865 *8
      CYP2D6 rs5030867 *7
      CYP2D6 rs59421388 *29
      CYP2D6 rs72549353 *19
      CYP2D6 rs72549354 *20
      CYP2D6 rs774671100 (rs72549357) *15
      CYP2D6 CYP2D6CNV CNV
      CYP2D6 CYP2D6 Hybrid *36
      CYP3A4 rs35599367 *22
      CYP3A4 rs4987161 *17
      CYP3A4 rs55785340 *2
      CYP3A4 rs67666821 *20
      CYP3A4 rs2740574  *1B
      CYP3A5 rs10264272 *6
      CYP3A5 rs28365083 *2
      CYP3A5 rs41303343 *7
      CYP3A5 rs776746 *3
      CYP4F2 rs2108622 *3
      DPYD rs1801265 *9A, (*9B)
      DPYD rs3918290 *2A, (*2B)
      DPYD rs55886062 *13
      DPYD rs67376798 rs67376798A
      F2 rs1799963 46739505G>A
      F5 rs6025 FVL, 1691G>A (Arg506Gln or Arg534Gln)
      GGCX rs11676382
      IFNL3 rs12979860 rs12979860T
      IFNL3 rs8099917 rs8099917
      MTHFR rs1801131 1286A>C
      MTHFR rs1801133 665C>T
      MT-RNR1 rs267606617
      NAT2 rs1799930 *6
      NAT2 rs1799931 *7
      NAT2 rs1801279 *14
      NAT2 rs1801280 *5
      NAT2 rs1805158 *19
      NUDT15 rs116855232 *2;*3
      NUDT15 rs147390019 *4
      NUDT15 rs869320766 *2;*6
      NUDT15 rs186364861 *5
      OPRM1 rs1799971 118 A>G
      SLCO1B1 rs11045819 *14
      SLCO1B1 rs2306283 *1b
      SLCO1B1 rs34671512 *35
      SLCO1B1 rs4149056 *5
      SLCO1B1 rs59502379 *9
      TPMT rs1142345 *3C
      TPMT rs1800460 *3B
      TPMT rs1800462 *2
      TPMT rs1800584 *4A
      UGT1A1 rs4124874 *60
      UGT1A1 rs4148323 *6
      UGT1A1 rs887829 *80
      VDR rs2228570
      VKORC1 rs17708472 *4
      VKORC1 rs7294 *3
      VKORC1 rs9923231 1639 G>A
  • Genome-Wide Assaociation (GWAS) Genotyping, Data Analysis and Complete Data Reporting
    • Illumina®Infinium HD (from 3,000 to 5M loci) (link)

Contact

Ian Mongrain, M.Sc.
Chef des opérations/Head of operations

Beaulieu-Saucier Pharmacogenomics Centre
Montreal Heart Institute, office S-2050
5000, Belanger East, Montreal
Qc, Canada, H1T1C8

Office: 514-670-7670, 7716
CA/USA: 1-855-670-7670, 7716
Fax: +1-514-670-7671

ian.mongrain@pharmacogenomics.ca