Monday, May 9, 2022

Fragile-X Syndrome (FMR1) screening, whole blood

Result format Modification

Test code: 3140
Nemonic code: 3140

Effective update from 12/05/2022


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

   Find the record of the test by clicking here

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