| ASD | Autism spectrum disorder |
| CCS | Circular consensus sequencing |
| FXS | Fragile X syndrome |
| FM | Full mutation |
| LOD | Limit of detection |
| LR-PCR | Long-range polymerase chain reaction |
| LRS | Long-read sequencing |
| PM | Premutation |
| tLRS-FMR1 | Targeted long-read sequencing assay for comprehensive FMR1 characterization |
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