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Condition Specific Fact Sheets

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GeneFacts condition-specific fact sheets provide information about the clinic features, diagnostic approach, management, risk assessment approach, screening and genetics of each condition.  Each fact sheet also has a list of resources useful for the patient and/or provider and a list of references used to develop the sheet.  While there is an option to look at each factsheet in a single document, they were developed to be used to answer specific questions by clicking on the appropriate section in the right hand menu.  

Available Fact Sheets


Alpha-1 Antitrypsin Deficiency

Down Syndrome

Familial Adenomatous Polyposis

Familial Hypercholesterolemia

Factor V Leiden-Associated Thrombosis

Fragile X Syndrome

Lynch Syndrome

Spina Bifida

Fact Sheets in Progress

The following fact sheets have been started but have not been fully vetted by primary care experts and/or the editorial board.  We are posting them now to allow access while NCHPEG and the GeneFacts team undergoes restructuring, which is starting September 2013.  We provide these draft fact sheets for informational purposes and do not endorse specific facts or structure contained within; please use them with caution.