Table 7 Appropriateness of the requests for genetic testing in seven rare disorders and 2007–2011 trend
From: Survey of medical genetic services in Italy: year 2011
Disorder | No. of clinically evaluated individuals | No. of cases confirmed by genetic testing | % of positive test (2011) | % of positive test (2007) | Trend from last survey |
|---|---|---|---|---|---|
Williams Syndrome | 610 | 149 | 24 | 3 | ++ |
DiGeorge/Velocardiofacial Syndrome | 2260 | 736 | 33 | 3 | ++ |
Fragile X Syndrome | 8240 | 353 | 4 | 4 | = |
Achondroplasia | 186 | 84 | 45 | 36 | + |
Noonan Syndrome | 968 | 267 | 28 | NE | |
Angelman Syndrome | 713 | 49 | 7 | 9 | - |
Prader-Willi Syndrome | 927 | 78 | 8 | 18 | - - |
Ankylosing spondylitis | 2826 | 418 | 15 | NE | |
Celiac diseases | 6748 | 3488 | 52 | NE |