Official websites use .gov
A
.gov website belongs to an official
government organization in the United States.
Secure .gov websites use HTTPS
A lock (
) or https:// means you've safely
connected to the .gov website. Share sensitive
information only on official, secure websites.
Number of WES tested family members and detection rate
| Family members WES tested | Total number of families | Molecular diagnosis established | Total detection rate |
|---|---|---|---|
| One individual onlya | 192 | 70 (36%) | 36% |
| Proband + 1 healthy parent or other unaffected relativesb | 25 | 7 (28%) | 43% (17/40) |
| Proband + affected relatives | 15 | 10 (67%) | |
| Trio: Proband + both parents | 39 | 17 (44%) | 42% (23/55) |
| Trio + affected relatives | 6 | 2 (33%) | |
| Trio + unaffected relatives | 10 | 4 (40%) | |
| Sum all family WES studies | 287 | 110 | 40% |
