TABLE 4.
Diagnostic accuracy at the codon level: results of initial and repeat hybridizations compared to sequencing (overall internal and external site validation)
| Codon | No. (%) of tests with indicated resulta |
|||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Full concordanceb |
Partial concordancec |
IND on LiPA | Complete discordanced | Totale | ||||||
| Total | WT | MUT | MIX | MIX LiPA no MIX Seq | MIX Seq no MIX LiPA | Different MIX | ||||
| L80V/I | 83 | 73 | 6 | 4 | 42 | 0 | 0 | 0 | 2 | 127 |
| V/G173L | 114 | 111 | 3 | 0 | 17 | 0 | 0 | 3 | 0 | 134 |
| L180M | 89 | 45 | 39 | 5 | 46 | 1 | 0 | 0 | 0 | 136 |
| A181T/V | 121 | 116 | 2 | 3 | 13 | 1 | 1 | 0 | 0 | 136 |
| M204V/I/S | 82 | 26 | 55 | 1 | 44 | 1 | 6 | 2 | 1 | 136 |
| N236T | 131 | 130 | 0 | 1 | 5 | 0 | 0 | 0 | 0 | 136 |
| Total | 620 (77.0) | 501 (62.2) | 105 (13.0) | 14 (1.7) | 167 (20.7) | 3 (0.4) | 7 (0.9) | 5 (0.7) | 3 (0.4) | 805 (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. 95% CI, 74.0 to 79.9 (Total), 58.8 to 65.6 (WT), 10.8 to 15.6 (MUT), 1.0 to 2.9 (MIX).
95% CI, 18.0 to 23.7 (MIX LiPA no MIX Seq), 0.1 to 1.1 (MIX Seq no MIX LiPA), 0.4 to 1.8 (Different MIX). The partial concordance results are expanded in Table 5 below.
95% CI, 0.1 to 1.1.
95% CI, 99.6 to 100.0.