Table 3.
Concordance for the highest priority pharmacogenes.
| Genes | Number of variants on DMET passing QC (call rate + HWE) | Median of call rates for all variants in gene | Methods used in addition to DMET Plus | Number of samples typed by at least 1 orthogonal method | Total Number of SNP-patient samples typed | Number of discordant genotypes | % Concordant |
|---|---|---|---|---|---|---|---|
| TPMT | 8 | 99.9 | Sanger Sequencing, Prometheus, Golden Gate | 67, 215, 32 | 906 | 2 | 99.8% |
| CYP2D6 | 26 | 99.8 | Sanger Sequencing | 67 | 268 | 0 | 100.0% |
| CYP2C19 | 15 | 98.1 | Sanger Sequencing, Golden Gate | 67, 32 | 431 | 0 | 100.0% |
| CYP2C9 | 16 | 98.4 | Sanger Sequencing, Golden Gate | 67,32 | 230 | 0 | 100.0% |
| VKORCI | 21 | 99.2 | SNP6/500K, Sanger Sequencing, Golden Gate | 88, 67, 32 | 608 | 0 | 100.0% |
| DPYD | 15 | 98.5 | Sanger Sequencing, Golden Gate | 67, 32 | 165 | 0 | 100.0% |
| UGT1A1 | 30 | 99.3 | SNP6/500K, Sanger Sequencing, Golden Gate | 88, 67, 32 | 626 | 1 | 99.8% |
| SLCO1B1 | 17 | 99.5 | SNP6/500K, MassARRAY, Golden Gate | 88, 31, 32 | 565 | 0 | 100.00% |