Table 1.
Demographics
| N | % | |
|---|---|---|
| Age | ||
| Prenatal | 2 | 3.2 |
| Age <5 year | 29 | 45.3 |
| Age 6–18 year | 22 | 33.8 |
| Adults | 11 | 17.7 |
| Gender | ||
| Male | 34 | 54.8 |
| Female | 28 | 45.2 |
| Primary reason for referral | ||
| Neurodevelopmental | 21 | 33.9 |
| Multiple congenital anomalies | 5 | 8.1 |
| Intellectual disability | 5 | 8.1 |
| Seizure | 5 | 8.1 |
| Cancer susceptibility | 4 | 6.5 |
| Brain abnormalities | 4 | 6.5 |
| Autism | 3 | 4.8 |
| Movement disorder | 3 | 4.8 |
| Cardiovascular | 3 | 4.8 |
| Neuromuscular | 2 | 3.2 |
| Skeletal | 2 | 3.2 |
| Ataxia/spasticity | 1 | 1.6 |
| Hematologic | 1 | 1.6 |
| Immune | 1 | 1.6 |
| Undergrowth/failure to thrive | 1 | 1.6 |
| Mixed phenotype: cancer, multiple congenital disorder | 1 | 1.6 |
| Primary results | ||
| Positive | 23 | 37.1 |
| Uncertain | 6 | 9.7 |
| Negative | 32 | 51.6 |
| Novel | 1 | 1.6 |
| Secondary findings | ||
| ACMG negative | 53 | 85.5 |
| ACMG positive | 2 | 3.2 |
| Not tested | 7 | 11.3 |