Table 2.
Overall diagnostic yield in 645 probands with suspected genetic conditions who underwent genetic testing in the NYCKidSeq study
| Variable | No./total No. | % (95% CI) | P value |
|---|---|---|---|
| Age group | .02 | ||
| < 3 years (infants/toddlers) | 21/73 | 28.8 (19.7 – 40.0) | |
| 3 to 12 years (preschool/school age children) | 57/334 | 17.1 (13.4 – 21.5) | |
| > 12 years (adolescents/young adults) | 35/238 | 14.7 (10.8 – 19.8) | |
|
| |||
| Population group | .31a | ||
| American Indian, Native American, or Alaska Native | 0/1 | - | |
| Asian | 3/35 | 8.6 (3.0 – 22.4) | |
| Black or African American | 13/105 | 12.4 (7.4 – 20.0) | |
| Hispanic/Latino(a) | 62/328 | 18.9 (15.0 – 23.5) | |
| Middle Eastern or North African/Mediterranean | 1/5 | 20.0 (3.6 – 62.4) | |
| White or European American | 25/126 | 19.8 (13.8 – 27.7) | |
| More than one population selected | 5/27 | 18.5 (8.2 – 36.7) | |
| Other | 1/4 | 25.0 (4.6 – 69.9) | |
| Prefer not to answer | 2/8 | 25.0 (7.1 – 59.1) | |
| Unknown/none of these fully describe my child | 1/6 | 16.7 (3.0 – 56.4) | |
|
| |||
| Recruitment site | .001 | ||
| Mount Sinai Health System | 55/401 | 13.7 (10.7 – 17.4) | |
| Montefiore Medical Center | 58/244 | 23.8 (18.9 – 29.5) | |
|
| |||
| Previous genetic testing | .001 | ||
| Yes | 48/192 | 25.0 (19.4 – 31.6) | |
| No | 65/453 | 14.3 (11.4 – 17.9) | |
|
| |||
| Primary phenotype | .31 | ||
| Cardiac | 9/33 | 27.3 (15.1 – 44.2) | |
| Immunologic | 7/38 | 18.4 (9.2 – 33.4) | |
| Neurologic | 97/574 | 16.9 (14.1 – 20.2) | |
|
| |||
| Neurologic phenotype category | <.001 | ||
| Epilepsy | 15/174 | 8.6 (5.3 – 13.7) | |
| Epilepsy and intellectual developmental disability | 37/205 | 18.0 (13.4 – 23.9) | |
| Intellectual developmental disability | 45/195 | 23.1 (17.7 – 29.5) | |
a
Chi squared test performed for population groups with ≥ 10 probands: Asian, Black or African American, Hispanic/Latino(a), White or European American, and More than one population