Multisystem diseases
Aniridia, WAGR syndrome, dominant
| Gene | OMIM | Method |
| PAX6 | 607108 | Sequencing MLPA |
Aorta enlargement, aortic aneurysm
Cystic fibrosis, recessive
| Gene | OMIM | Method |
| CFTR | 602421 | Sequencing MLPA OLA |
Ehlers-Danlos syndrome
| Gene | OMIM | Method |
| COL3A1 | 120180 | Sequencing MLPA |
Pancreatitis, dominant
| Gene | OMIM | Method |
| PRSS1 | 276000 | Sequencing |
Marfan syndrome, dominant
| Gene | OMIM | Method |
| FBN1 | 134797 | Sequencing |
Lipodystrophy
Loeys-Dietz syndrome, dominant
MODY diabetes, dominant
Methylmalonic acidemia, homocysteinuria, recessive
Porphyria, recessive
| Gene | OMIM | Method |
| ALAD | 125270 | Sequencing |