Fig. 2: Representative images of variants detected by different methods.

a Confirmation of FMR1 CGG repeats in three carriers with premutation using the Asuragen AmplideX™ FMR1 PCR Kit. The image showing hexachloto-Fluorescein (HEX) channel from capillary electrophoresis. b Analysis of CYP21A2 deletion by using HLPA. The shown columns are relative allele number of CYP21A2 exons. c Gap-PCR analysis was performed to analyze of HBA1 deletions. A representative gel image of banding pattern observed for HBA1 --(SEA) deletion is shown. WT wide type.