TABLE 3.
Diagnostic accuracy at the codon level: results of initial and repeat hybridizations compared to sequencing (validation at external sites)
| 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 | 39 | 34 | 3 | 2 | 11 | 0 | 0 | 0 | 0 | 50 |
| V/G173L | 44 | 41 | 3 | 0 | 5 | 0 | 0 | 1 | 0 | 50 |
| L180M | 32 | 14 | 18 | 0 | 18 | 0 | 0 | 0 | 0 | 50 |
| A181T/V | 49 | 48 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 50 |
| M204V/I/S | 32 | 10 | 21 | 1 | 14 | 0 | 3 | 1 | 0 | 50 |
| N236T | 48 | 48 | 0 | 0 | 2 | 0 | 0 | 0 | 0 | 50 |
| Total | 244 (81.3) | 195 (65.0) | 46 (15.3) | 3 (1.0) | 51 (17) | 0 (0) | 3 (1.0) | 2 (0.7) | 0 (0) | 300 (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.