Screening for Fragile X Syndrome - Nature PDF gim2003360.pdf

Purpose: This study examined the attitudes and beliefs of 442 parents of children with fragile X syndrome (FXS) regarding different screening options for FXS

Testing for the fragile X mutation is based primarily on measuring the length of the FMR1 gene region containing the CGG repeat stretch and then calculating the CGG repeat number Analysis of the gene's methylation status (i e whether the gene is turned 'off' or 'on') is often performed simultaneously

[PDF] Genetic test for fragile X syndrome - Medical Services Advisory

Fragile X testing is most accurate if a combination of both techniques are employed, depending on the exact fragile X genotype The fragile X mutation involves an

[PDF] Fragile X Syndrome

Fragile X syndrome: Diagnostic and carrier testing Stephanie Key Words: fragile x syndrome, genetic testing, FMR1, X-linked mental retardation Disclaimer:

[PDF] Molecular genetic testing for fragile X syndrome: laboratory

Purpose: The College of American Pathologists offers biannual proficiency testing for molecular analysis of fragile X syndrome The purpose of this study was to