International Portfolio
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
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)