Ophthalmology
CGC Mutation Panels
- Bardet-Biedl Syndrome
Molecular Diagnostics
- Alström Syndrome (gene ALMS1)
- Bardet-Biedl Syndrome (BBS1 gene, M390R mutation)
- Bardet-Biedl Syndrome (BBS1 gene, M390R mutation), Prenatal
- Leber’s Hereditary Optic Neuropathy (sequence analysis of hot-spots)
- Pharmacogenetics of anti-angiogenics
- Retinitis Pigmentosa
