Table 1 Results of fragile X testing performed by the Alberta Children’s Hospital’s Molecular Diagnostic Laboratory between 2012 and 2017.
From: Re-evaluating the first-tier status of fragile X testing in neurodevelopmental disorders
Result | Male | Female | Total |
|---|---|---|---|
Positive (n = 30) | |||
Full mutation | 18 | 4 | 22 |
Full mutation mosaic | 7 | 1 | 8 |
Negative (n = 2456) | |||
Premutation | 4 | 6 | 10 |
Normal | 1890 | 556 | 2446 |
Total | 1919 | 567 | 2486 |
