Table 4.
Discrepant CYP2D6 Genotypes Listed by Platform†
| Coriell cell line number | Consensus result‡ | Roche Amplichip® | LDT | AutoGenomics INFINITI® | Luminex XTag™ V2 | ParagonDx§ |
|---|---|---|---|---|---|---|
| GM17289 | *2/*4 | *2/*4 | *2/*4 | *2 (*29)/*4,*10 | *2A/*4 | *2A/*4 |
| GM17084 | *1/*10 | NC¶ | *2/*10 | *2/*10 | *1/*10 | *1/*10 |
| GM17252 | *4/*5 | NC∥ | *4/*5 | *4,*10/*5, | *4/*5 | *4/*5 |
| GM17244 | DUP/*4/*2A | NC** | NA¶ | *2/*4,*10, XN | DUP/*4/*2A | NA |
| GM17287 | *1/*1 (*36/?) | NC†† | NA | *1/*1 | *1/*1 | NA |
| GM09301 | Duplication | *1/*41XN | *2/*X2 (DUP) | *2/XN | DUP/*2 | *1/*1XN |
| GM17218 | *2/*2 (*35) | *2/*35 | NA | *2/*2 | *2A/*2A | NA |
| GM17213 | *1/*2 (*35) | *1/*35 | NA | *1/*2 | *1/*2A | NA |
| GM17256 | *2 (*35)/*2 (*35) | *35/*35 | NA | *2/*2 | *2A/*2A | NA |
| GM17243 | *2 (*35)/*4 | *4/*35 | NA | *2/*4,*10 | *2A/*4 | NA |
| GM17261 | *2 (*35)/*4 | *4/*35 | NA | *2/*4,*10 | *2A/*4 | NA |
| GM17119 | *1/*2 | *1/*41 | *1/*2 | *1/*2 | *1/*2 | *1/*1 |
Where no mutation is detected,
1 is assumed.
Genotypes in parentheses were detected by assays performed in only one laboratory. The results were not verified because no other assays designed to detect the allele were included in this study.
NA, not applicable, as platform was not used to test DNA from the cell line.
NC, No call (*10; Haplotype: c.100C>T, c.1039C>T, c.1661G>C, c.2850C>T, c.4180G>C).
NC, No call [*4/*5; Haplotype: c.100C>T(mut), c.1039C>T, c.1661G>C(mut), c.1846G>A(mut), c.4180G>C(mut); deletion detected].
NC, No call [*2/*4 duplication identified; Haplotype: c.-1584C>G, c.100C>T, c.1661G>G(mut), c.1846G>A, c.2850C>T, c.4180G>C(mut); duplication positive].
NC, No call (*36/?; Haplotype: *36 gene conversion, c.4180G>C).