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 |