Fragile-X Syndrome (FMR1) screening, whole blood

Method and Reference values Modification

Test code: 3140

Effective update from 12/09/2019

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Method: Tri-Primer Polymerase Chan Reaction (mTP-PCR) Normal range : 5-44 repetitions Twilight Zone : 45-54 repetitions Premutation range : 55-200 repetitions Mutation : > 200 repetitions       (Genetics in Medecine 2001, 3:200-205) (*) The specific methodology applied to this study is: DNA extraction and subsequent bisulfite conversion. Expansion of the flanking region of the triplet (CGG)n by methylation-specific fluorescent PCR (MSF-PCR). Direct Amplification of triplet (CGG)n by TP-PCR. Fragment analysis by capillary electrophoresis             Version of Test: 18

Method: Multiplex PCR fluorescent Normal range : 5-44 repetitions Twilight Zone : 45-54 repetitions Premutation range : 55-200 repetitions Mutation : > 200 repetitions       (Genetics in Medecine 2001, 3:200-205) (*) The specific methodology applied to this study is: DNA extraction. Direct amplification of the triplet (CGG) n and the flanking region by fluorescent PCR (CGG RP PCR). Fragment analysis by capillary electrophoresis.       Version of Test: 19

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