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Table 1 Patient demographics

From: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

  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