Fragile-X Syndrome (FMR1) screening, whole blood

Result format Modification

Test code: 3140

Nemonic code: 3140

Effective update from 12/05/2022

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Result format: R1: (CGG)n triplet R2: Allels of n repetitions            Reference values:          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

See the attached report                                                                                                               Version of Test: 20

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