AS Diagnostic Testing

               AS diagnostic testing can be intricate.  When AS is suspected, a diagnosis begins with a DNA methylation analysis.  If this test turns out positive, then a large common deletion, uniparental disomy, or defects in the imprinting center has occurred.  Usually, the next step is to identify if the commom deletion has occurred by performing a FISH (fluorescent in situ hybridization) chromosome test.  If this is normal, then UPD (uniparental disomy) is ruled out by molecular testing involving parental bloods.  If both of the tests turn out negative, then an imprinting defect is assumed.^[1]

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