Table 1 Patient demographics
Number of individuals (n = 543) | Proportion of total cohort (%) | |
|---|---|---|
Reported sex | ||
Male | 244 | 44.9 |
Female | 228 | 42.0 |
Not reported | 71 | 13.1 |
Age at time of testing | ||
Fetus | 88 | 16.2 |
Infant (birth-age 2) | 160 | 29.5 |
Childhood (ages 3–10) | 132 | 24.3 |
Puberty (ages 11–18) | 67 | 12.3 |
Young adult (ages 19–40) | 68 | 12.5 |
Adult (ages 41–66) | 28 | 5.2 |
Panel received | ||
Skeletal dysplasias core (up to 113 genes) | 65 | 12.0 |
Comprehensive skeletal dysplasias and disorders (up to 251 genes) | 269 | 49.5 |
Comprehensive growth disorders/skeletal dysplasias and disorders (up to 374 genes) | 209 | 38.5 |