Monday, September 9, 2019

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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