Table 2.
HD samples used for this validation and corresponding genotypes obtained using fluorescent repeat-flanking PCR.
| LAB ID | Categorical Bin | “In House” PCR | AmplideX PCR/CE HTT Kit | ||
|---|---|---|---|---|---|
| Allele 1 | Allele 2 | Allele 1 | Allele 2 | ||
| MGM17-1760 | Normal | 17 | 17 | 17 | 17 |
| MGM18-1250 | Normal | 17 | 17 | 17 | 17 |
| MGM17-0052 * | Intermediate | 15 | 29 | 15 | 29 |
| MGM17-0089 | Intermediate | 19 | 32 | 19 | 32 |
| MGM16-0689 | Reduced penetrance | 17 | 37 | 17 | 37 |
| HD157-02 | Reduced penetrance | 17 | 37 | 17 | 37 |
| MGM16-0828 | Reduced penetrance | 17 | 37 | 17 | 37 |
| MGM17-1738 | Reduced penetrance | 17 | 39 | 17 | 39 |
| MGM15-1651 | Reduced penetrance | 24 | 39 | 24 | 39 |
| HD23-05 | Reduced penetrance | 33 | 39 | 33 | 39 |
| MGM16-0607 | Full penetrance | 20 | 40 | 20 | 40 |
| MGM18-0177 | Full penetrance | 14 | 41 | 14 | 41 |
| CTRL-DNA_S0162119 * | Full penetrance | 17 | 41 | 17 | 41 |
| MGM16-0196 | Full penetrance | 17 | 41 | 17 | 41 |
| MGM18-0239 | Full penetrance | 40 | 40 | 40 | 40 |
| CTRL-DNA_S0162120 * | Full penetrance | 15 | 42 | 15 | 42 |
| MGM16-0086 | Full penetrance | 18 | 42 | 18 | 42 |
| MGM17-1838 | Full penetrance | 17 | 43 | 17 | 43 |
| HD672-01 | Full penetrance | 17 | 44 | 17 | 44 |
| MGM16-0250 | Full penetrance | 17 | 46 | 16 | 46 |
| MGM18-0181 | Full penetrance | 40 | 47 | 40 | 47 |
| HD423-02 | Full penetrance | 22 | 50 | 22 | 50 |
| HD09-08 | Full penetrance | 18 | 59 | 18 | 59 |
| HD87-07 | Full penetrance | 17 | 62 | 17 | 62 |
| MGM17-1716 | Full penetrance | 17 | 63 | 17 | 63 |
| MGM17-0054 * | Full penetrance | 22 | 63 | 22 | 63 |
| MGM18-0054 | Full penetrance | 22 | 63 | 22 | 63 |
| MGM18_0054 | Full penetrance | 22 | 63 | 22 | 63 |
| HD438-01 | Full penetrance | 17 | 66 | 17 | 66 |
| MGM17-1387 | Full penetrance | 20 | 74 | 20 | 74 |
| HD09-11 | Full penetrance | 20 | 74 | 20 | 74 |
| MGM16-1030 | Full penetrance | 26 | 76 | 26 | 76 |
| HD315-01 | Full penetrance | 26 | 78 | 26 | 78 |
| MGM16-1033 | Full penetrance | 17 | 80 | 17 | 81 |
| MGM16-1032 | Full penetrance | 33 | 86 | 33 | 87 |
| HD636-01 | Full penetrance | 17 | 86 | 17 | 86 |
| HD09-12 | Full penetrance | 18 | 86 | 18 | 86 |
| MGM16-1031 | Full penetrance | 19 | 88 | 19 | 89 |
| HD379-05 | Full penetrance | 18 | 89 | 18 | 89 |
| MGM16-1034 | Full penetrance | 18 | 96 | 18 | 96 |
| HD130-05 | Full penetrance | 25 | 98 | 25 | 98 |
| MGM16-1035 | Full penetrance | 17 | 84 | 17 | >200 |
| MGM18-1332 | Full penetrance | 26 | 95 | 26 | >200 |
Acceptable error limits are ±1 repeat for alleles ≤42 and ±3 repeats for alleles >42 [31]. * Samples tested in other HD reference laboratories. Underlined and in bold is the difference between the two methodologies.