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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  
  1. NE not evaluated
  2. ++ significant improvement
  3. + improvement
  4. = no variations
  5. - worsening
  6. -- significant worsening