Table 1.
CentoMD® cohort characteristics
| Characteristics | % |
|---|---|
| Individuals from testing and systematic screening programs (Rolfs et al. 2013) | |
| Cases (genetically confirmed diagnosis) | 17.5 |
| Carriers (of a clinically relevant genetic variant) | 9.9 |
| No confirmation of a hereditary disorder | 72.6 |
| Gender | |
| Females | 51.8 |
| Males | 48.2 |
| Geographic distribution | |
| Europe | 58.3 |
| Middle East | 18.8 |
| South and Central America | 15.2 |
| North America | 5.2 |
| Other regions | 4.0 |
| Age at genetic diagnosis [years] (cases and carriers) | |
| Prenatal | 0.4 |
| <3 | 16.7 |
| 3–10 | 15.4 |
| 11–18 | 9.4 |
| 19–44 | 39.3 |
| 45–64 | 14.9 |
| >65 | 3.9 |