FRAGILE X MENTAL RETARDATION 1 ANALYSIS (FMR1)

Fragile X syndrome is a trinucleotide-repeat disorder caused by the expansion of CGG triplet repeat in the FMR1 (fragile X mental retardation 1) gene. The disease is characterized by developmental problems including learning disabilities, communication problems, social interactions, and cognitive impairment.

Amplexa Genetics performs genetic testing for FMR1 gene mutation in women who like to undergo a pregnancy with a sperm donor. 

TEST SPECIFICATIONS

Fragment length analysis. The reagents provide a PCR-only approach based on Triplet Repeat Primed PCR (TP-PCR) design to amplify and detect all alleles including full mutations.

Chemistry: AmplideX PCR/CE FMR1 Reagents, Asuragen

Hardware: SeqStudio Genetic Analyzer

Data processing: Data is analyzed in GeneMarker Software. A standard sample mixed by four samples from Coriell Institute, with 20, 29/31, 53, 118 repeats, is used.   

Metrics: >95% sensitivity