TABLE 2.
Diagnostic accuracy at the codon level: results of initial and repeat hybridization compared to sequencing (Innogenetics internal validation)
| Codon | No. (%) of tests with indicated resulta |
|||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Full concordanceb |
Partial concordance |
IND on LiPA | Complete discordance | Total | ||||||
| Total | WT | MUT | MIX | MIX LiPA no MIX Seq | MIX Seq no MIX LiPA | Different MIX | ||||
| L80V/I | 44 | 39 | 3 | 2 | 31 | 0 | 0 | 0 | 2 | 77 |
| V/G173L | 70 | 70 | 0 | 0 | 12 | 0 | 0 | 2 | 0 | 84 |
| L180M | 57 | 31 | 21 | 5 | 28 | 1 | 0 | 0 | 0 | 86 |
| A181T/V | 72 | 68 | 1 | 3 | 12 | 1 | 1 | 0 | 0 | 86 |
| M204V/I/S | 50 | 16 | 34 | 0 | 30 | 1 | 3 | 1 | 1 | 86 |
| N236T | 83 | 82 | 0 | 1 | 3 | 0 | 0 | 0 | 0 | 86 |
| Total | 376 (74.5) | 306 (60.6) | 59 (11.7) | 11 (2.2) | 116 (23.0) | 3 (0.6) | 4 (0.8) | 3 (0.6) | 3 (0.6) | 505 (100) |
WT, wild type; MUT, mutant; MIX, wild type and mutant both present with respect to codons 80, 173, 180, 181, 204, and 236; Mix LiPA no MIX Seq, detection of both wild type and mutant by LiPA versus either wild type or mutant detected by sequencing; MIX Seq no MIX LiPA, detection of both wild type and mutant by sequencing versus either wild type or mutant detected by LiPA; Different MIX, different mixture between LiPA and sequencing of both wild type and mutant present with at least one shared amino acid by both methods; IND on LiPA, indeterminate result with LiPA.
The data for full concordance between LiPA and direct sequencing are divided into three groups: the WT group, MUT group, and MIX group.