TABLE 2.
Comparison of sequence data and LiPA results: overview of results obtained at the four participating centers
| Codon | No. (%) of samples showing full concordance | No. of samples showing full concordance
|
No. of samples showing mix on LiPA but not sequencing (no. wild type/no. mutant) | No. of samples
|
Complete discordance | Total no. of codon results | |||
|---|---|---|---|---|---|---|---|---|---|
| Wild type | Mutant | Mix | Mix by sequencing but not by LiPA | Indeterminate by LiPA | |||||
| 528 [180] | 130 (81.8) | 95 | 33 | 2 | 25 (3/22) | 3a | 1 | 159 | |
| 552 [204] | 136 (85.5) | 72 | 62 | 2 | 15 (5/10) | 2 | 6 | 159 | |
| 555 [207] | 158 (99.4) | 158 | 1 (1/0) | 159 | |||||
| Total | 424 (88.9) | 325 | 95 | 4 | 41 (9/32) | 3 | 2 | 7 | 477 |
a
Upon retesting at Innogenetics, LiPA results were concordant with sequencing results.