Pharmacogenomics

The ACCDL offers two pharmacogenomic tests
1) a small 2-gene panel consisting of just TPMT and NUDT15 genotyping, and
2) a larger 11-gene panel (Actionable Pharmacogenomics Panel).

Both tests utilize probe-based PCR genotyping to detect the most frequent pharmacogenomic variants in the genes listed. Predicted metabolic phenotypes and potential gene-drug interactions are assigned following CPIC Guidelines.

Results are reported within Epic with Genomic Indicator summaries providing clinical decision support. E-consults with pharmacy are available at any time for interpretation and guidance and can be ordered within the 11-gene panel order.

The 11-gene pharmacogenomic panel is based on CPIC Level A Guidelines. This test detects variants in the following genes: ABCG2, CYP2B6, CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, NUDT15, SLCO1B1, TPMT, and VKORC1.

The 2-gene TPMT and NUDT15 panel detects the same variants in TPMT and NUDT15 as those detected in the larger panel. Only TPMT and NUDT15 genes are tested.

Epic Test Codes:
Actionable Pharmacogenomics Panel (LAB53627)
TPMT and NUDT15 Genotyping (LAB54603)

Specimens: Whole Blood in EDTA tube (lavender top), send to JHH Core Lab at room temp

Test Set-Up: Testing is performed weekly at a minimum. Typical turn-around times are 3-7 days.

Helpful Links

Questions?

Contact Dr. Mark Marzinke ([email protected]) or Dr. Claire Knezevic ([email protected])

Genes/Tests included:

  • ABCG2: rs2231142
  • CYP2B6: *6 (rs3745274), *18 (rs28399499)
  • CYP2C9: *2 (rs1799853), *3 (rs1057910), *5 (rs28371686), *6 (rs9332131), *8 (rs7900194), *11 (rs28371685)
  • CYP2C19: *2 (rs4244285, rs12769205), *3 (rs4986893), *5 (rs56337013), *9 (rs17884712), *17 (rs12248560), *35 (rs12769205)
  • CYP2D6: *2 (rs16947, rs1135840), *3 (rs35742686), *4 (rs3892097), *6 (rs5030655), *9 (rs5030656), *10 (rs1135840, rs1065852), *12 (rs16947, rs1135840, rs5030862), *17 (rs16947, rs1135840, rs28371706), *29 (rs16947, rs1135840, rs59421388), *41 (rs16947, rs1135840, rs28371725), deletions (*5), duplications/multiplications
  • CYP3A5: *3 (rs776746), *6 (rs10264272), *7 (rs41303343)
  • DPYD: c.2846A>T (rs67376798), c.1129-5923C>G, c.1236G>A (HapB3, rs75017182), c.1905+1G>A (*2A, rs3918290)
  • NUDT15: *3 (rs116855232)
  • SLCO1B1: *5 (rs4149056), *15 (rs2306283)
  • TPMT: *2 (rs1800462), *3B (rs1800460), *3C (rs1142345), *3A (rs1800460, rs1142345)
  • VKORC1: rs9923231

Note: Results may reflect donor DNA if patient has received a non-leukoreduced blood transfusion within the past 6 weeks or an allogenic hematopoietic stem cell transplant. Results may not reflect patient’s drug metabolism status if they have received a liver transplant.