The following recommendations are currently being worked on and will be published as soon as possible:
- Tay Sachs disease
- Bloom syndrome
- Fibromuskular dysplasia
- Gorlin-Goltz syndrome
- Non-ketotic hyperglycinemia
- Long QT
- Cystic hygroma
- Retinoblastoma
- Retinoblastoma
- Very long chain acetyl co enzyme dehydrogenase deficiency
- Hypophosphatasia
- Immunodeficiency, centromeric instability and facial anomalies (ICF)
- Patau Syndrom
- Mowat Wilson Syndrome
- Trisomy 21