Our international portfolio is currently in development.

Molecular Genetics

• Achondroplasia
• Alport syndrome
• CADASIL (autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1)
• Catecholaminergic polymorphic ventricular tachycardia (CPVT)
• Congenital adrenal hyperplasia (CAH)/adrenogenital syndrome
• Cystic fibrosis (Mucoviscidosis)
• Deafness, non-syndromic
• Dravet syndrome (Severe myoclonic epilepsy of infancy)
• Duchenne/Becher muscular dystrophy
• Fabry disease
• Fragile X syndrome, FXPOI, FXTAS
• Glucose-6-phosphate dehydrogenase deficiency (Favism)
• Glucose transporter type 1 deficiency syndrome
• Hemophilia A
• Hypercholesterolemia, familial
• Hypochondroplasia
• Hyperoxaluria
• Kabuki syndrome
• Langer Mesomelic Dysplasia (LMD)
• Léri-Weill Dyschondrosteosis (LWD)
  
• Marfan syndrome
• Myotonic dystrophy type 1 (Curschmann-Steinert disease)
• Noonan syndrome
• Porphyrias
• Rett syndrome
• SHOX-related short stature (Idiopathic short stature)
  
• Spherocytosis, hereditary (including elliptocytosis/poikilocytosis)
• Spinal muscular atrophy type I-III (IV) (SMA1,2,3,4)
• Thanatophoric dysplasia (TD)
• Thoracic aortic aneurysms and dissection (Thoracic aortic diseases)
  
• Tuberous sclerosis complex (TSC)
• Usher syndrome

Immunogenetics

• Congential neutropenia
• Hereditary periodic fever syndromes
  
  

Molecular Oncology

• Acute myeloid leukemia (AML)
• Breast and ovarian cancer, familial
  
• Chronic lymphocytic leukemia (CLL)
• Chronic myeloid leukemia (CML)
• Hereditary nonpolyposis colorectal cancer (HNPCC)/ Lynch syndrome
• Multiple endocrine neoplasia type 2A and B (MEN2)
• Myelodysplastic syndromes (MDS)
• Polycythemia vera (PV)