[PDF][PDF] Clinical utility gene card for: Achromatopsia-update 2013

S Kohl, C Hamel - European Journal of Human …, 2013 - blueconemonochromacy.org
S Kohl, C Hamel
European Journal of Human Genetics, 2013blueconemonochromacy.org
2.3 Clinical sensitivity (proportion of positive tests if the disease is present) The clinical
sensitivity can be dependent on variable factors such as age or family history. In such cases
a general statement should be given, even if a quantification can only be made case by
case. It is 75–90%(refs 2–4) depending on the population—there is evidence for further
genetic heterogeneity. 2.4 Clinical specificity (proportion of negative tests if the disease is
not present) The clinical specificity can be dependent on variable factors such as age or …
2.3 Clinical sensitivity (proportion of positive tests if the disease is present) The clinical sensitivity can be dependent on variable factors such as age or family history. In such cases a general statement should be given, even if a quantification can only be made case by case. It is 75–90%(refs 2–4) depending on the population—there is evidence for further genetic heterogeneity.
2.4 Clinical specificity (proportion of negative tests if the disease is not present) The clinical specificity can be dependent on variable factors such as age or family history. In such cases a general statement should be given, even if a quantification can only be made case by case. Above 95%.
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