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Assay validation on amniotic fluid and CVS samples
| Description | Normal samples | Abnormal samples |
|---|---|---|
| Normal | 109/109 | – |
| Aneuploidies of 13, 18, 21, X and Y | – | 70/70 |
| Microdeletion syndromes | – | 6/6 |
| Single gene diseases | – | 15/15a |
aSamples were found to be heterozygous (carriers) for targeted mutations
