9. Comparison of results obtained when using FISH or PCR‐based LOH as the reference standard.
| Test | Reference standard | Number of studies | Number people with disease | Number people without disease | Total people in meta‐analysis | Sensitivity (95% CrI) | Specificity (95% CrI) |
| Real‐time PCR | FISH | 2 | 17 | 23 | 40 | 0.81 (0.20 to 0.99) | 1.00 (0.95 to 1.00) |
| PCR‐based LOH | 1 | 10 | 0 | 10 | 1.00 (0.77 to 1.00) | N/A | |
| MLPA | FISH | 2 | 12 | 21 | 33 | 0.96 (0.44 to 1.00) | 0.68 (0.20 to 0.95) |
| PCR‐based LOH | 1 | 8 | 10 | 18 | 1.00 (0.74 to 1.00) | 1.00 (0.83 to 1.00) | |
| CGH | FISH | 4 | 25 | 50 | 75 | 0.95 (0.59 to 1.00) | 0.99 (0.90 to 1.00) |
| PCR‐based LOH | 6 | 70 | 81 | 151 | 0.94 (0.74 to 0.99) | 0.98 (0.91 to 1.00) | |
| aCGH | FISH | 3 | 18 | 21 | 39 | 1.00 (0.89 to 1.00) | 0.91 (0.55 to 0.99) |
| PCR‐based LOH | 4 | 30 | 27 | 57 | 1.00 (0.97 to 1.00) | 0.96 (0.75 to 1.00) | |
| SNP array | FISH | 6 | 46 | 65 | 111 | 0.90 (0.57 to 0.99) | 0.97 (0.84 to 1.00) |
| PCR‐based LOH | 2 | 16 | 17 | 33 | 0.97 (0.50 to 1.00) | 1.00 (0.92 to 1.00) | |
| NGS | FISH | 6 | 78 | 165 | 243 | 0.94 (0.75 to 0.99) | 1.00 (0.99 to 1.00) |
| PCR‐based LOH | 1 | 18 | 31 | 49 | 1.00 (0.86 to 1.00) | 0.98 (0.64 to 1.00) | |
| MS | FISH | 1 | 5 | 5 | 10 | 1.00 (0.60 to 1.00) | 1.00 (0.70 to 1.00) |
| PCR‐based LOH | 1 | 16 | 34 | 50 | 1.00 (0.85 to 1.00) | 1.00 (0.94 to 1.00) |
aCGH: array comparative genomic hybridisation; CGH: comparative genomic hybridisation; CrI: credible interval; FISH: fluorescence in situ hybridisation; LOH: loss of heterozygosity; MLPA: multiplex‐ligation‐dependent probe amplification; MS; mass spectrometry; N/A: not applicable; NGS: next‐generation sequencing; PCR: polymerase chain reaction; SNP: single nucleotide polymorphism.