Table 1 Summary of studied individuals and diagnostic yield.
Category | Number of cases (%) | Number of diagnosed cases | Diagnostic rate (%) | P-Value | |
|---|---|---|---|---|---|
MLPA | |||||
Gender | Fetus | 3 (0.5) | 3 | 3/3 (100) | |
Male | 330 (60) | 91 | 91/330 (28) | 0.99 | |
Female | 214 (39) | 59 | 59/214 (28) | ||
Age at report | Childhood (< 18 years) | 139 (25) | 28 | 28/ 139 (20) | NA* |
Adulthood (≥ 18 years) | 405 (74) | 122 | 122/405 (30) | ||
Total | 547 | 153 | 153/547 (28) | ||
NGS | |||||
Gender | Male | 872 (57) | 395 | 395/872 (45) | 0.28 |
Female | 666 (43) | 320 | 320/666 (48) | ||
Age at report | Childhood (< 18 years) | 513 (33) | 273 | 273/513 (53) | NA* |
Adulthood (≥ 18 years) | 1025 (67) | 442 | 442/1025 (43) | ||
Consanguinity | Yes | 989 (64) | 515 | 515/989 (52) | < 0.05 |
No | 549 (36) | 200 | 200/549 (36) | ||
Family history | Yes | 414 (27) | 232 | 232/414 (56) | < 0.05 |
No | 1124 (73) | 483 | 483/1124 (43) | ||
Test | WES | 1382 (90) | 626 | 626/1382 (45) | < 0.05 |
GPS | 156 (10) | 89 | 89/156 (57) | ||
Total | 1538 | 715 | 715/1538 (46) | ||
Total MLPA and NGS | 2009 | 868 | 868/2009 (43) | ||
