| ASD | Autism spectrum disorder |
| CGT | Clinical genetic testing |
| CMA | Chromosomal microarray |
| CNV | Copy number variant |
| DS | Down syndrome |
| ESHG | European Society of Human Genetics |
| FX | Fragile X |
| FXS | Fragile X syndrome |
| ICD | International Statistical Classification of Diseases and Related Health Problems |
| REC | Regional Committee for Medical and Health Research Ethics |
| VPHI | Voluntary private health insurance |
| WHO | World Health Organization |
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