• Increased clinical accuracy compared to Southern Blot
  • Low abundance total mutations are detected
  • Increased resolution on female zygosity
  • Repeats of AGG interruptions are detected
  • Diagnostic Sensitivity of 100%; Diagnostic Specificity of 98.4% and Overall Accuracy of 99%


Chemistry:  CE IVD approvedAmplideX┬« PCR/CE from Asuragen
Hardware: SeqStudio GeneticAnalyzer

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

Metrics: >95%sensitivity 


By ordering an analysis at Amplexa Genetics A/S, the requester confirms to have obtained the necessary informed consent for the performance of the requested analyses and accepts Amplexa Genetics Terms and Conditions. A hard-copy requisition or an e-mail stating the specific study together with the receipt of a sample is considered an order to conduct the analysis.


From the day of order receipt, the turnaround time is five weeks.