The AmplideX™ FMR1 PCR Kit (CE IVD) is an in vitro diagnostic device for use in clinical laboratories to amplify and detect the CGG repeat region in the 5′-untranslated region of the fragile X mental retardation-1 (FMR1) gene. This product is intended as an aid in diagnosis of fragile X syndrome and associated disorders, e.g. tremor and ataxia syndrome (FX-TAS) and primary ovarian insufficiency (FXPOI), through determination of CGG repeat length up to 200 CGG and detection of alleles greater than 200 CGG. The test consists in a polymerase chain reaction (PCR) of genomic DNA purified from whole blood followed by fragment sizing on a capillary electrophoresis and conversion of product size to the number of CGG repeats.
- All expansions detected
- Detects interrupting AGG sequences
- Great sensitivity
- Resolves female zygosity
Fast reporting and reduced manipulation time
Theradiag presents the new AmplideX® FMR1 mPCR reagents which employs an innovative PCR-only approach for the detection of methylation status in the FMR1 gene. These reagents reveal the extent of methylation of each individual allele in both male and female samples, and thus definitively eliminate the need to run tedious and time consuming Southern blots.