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