Table 2.
Nominal and actual results of the mutation analyses of KIT exons 9 and 11 and PDGFRA exon 18 performed in trial 2.
| sample | exon | nominal result | Lab A | Lab B | Lab Ca | Lab D | Lab Ea | Lab F |
|---|---|---|---|---|---|---|---|---|
| T2.1 | 11 | c.IVS10(-5)_(-1); | ||||||
| 1648_1672del30 | p.Q567_577Pdel | |||||||
| p.K550_558del | ||||||||
| T2.2 | 18 | c.2528_2539del12 | c.2530_2538del9 | |||||
| p.I843T; | p.I843_S847insT | p.I843_S847del | ||||||
| M844_S847del | ||||||||
| T2.3 | 11 | c.1669T>A | ||||||
| p.W557R | ||||||||
| T2.4 | 11 | c.1712_1738dup27 | c.b | c.b | c.wild-type | c.b | ||
| p.H580L; | p.b | p.b | p.wild-type | p.insLDPTQLPYD | p.D572_H580ins | p.b | ||
| D572_H580dup | ||||||||
| T2.5 | 11 | c.1727T>C | ||||||
| p.L576P | ||||||||
| T2.6 | c.wild-type | |||||||
| p.wild-type | ||||||||
| T2.7 | 11 | c.1669T>A | p.W557_R558del | c.wild-type | ||||
| p.W557R | p.wild-type | |||||||
| T2.8 | 11 | c.1679T>A | c.wild-type | c.1811T>A | ||||
| p.V560D | p.wild-type | p.V604D | ||||||
| T2.9 | 11 | c.c | c.1693_1716del24; | c.1693_1720del28; | c.1692_1720del | |||
| 1720del | insC | p.G565P; | p.G564_D572del | p.G565_D572del | ||||
| p.c | p.G565_D572del; | p.G565_T574delinsP | N566_T574del | p.G565_P573del | ||||
| T774del | ||||||||
| T2.10 | 11 | c.1668_1723del57d | c.1679T>A | c.1672_1716del45 | c.wild-type | c.wild-type | c.wild-type | |
| p.W557_Q575deld | p.V560D | p.K558_D572del | p.wild-type | p.wild-type | p.wild-type | |||
| T2.11 | 11 | c.1669_1674del6 | ||||||
| p.W557_K558del | p.W557_R558del | |||||||
| T2.12 | 11 | c.1676T>A | ||||||
| p.V559D | p.W557_R558del | |||||||
Only the nominal results of the relevant exons are given, other exons are wild-type; for the individual panel labs only the results differing from the nominal results are denoted on DNA and protein level, matching results are not shown.
a changes in DNA sequence were not specified in Lab C and E
b in Lab A and Lab F the DNA was not amplifiable; in Lab B mutation was detected from frozen tissue
c complex deletion, different specifications are possible (see Lab A, Lab B and Lab C)
d mutation could not be detected from FFPE material in the second trial; in Lab E mutation was detected from frozen tissue