Diagnostics

Apart from our research projects, we offer genetic diagnostic services for a number of hereditary disorders of the retina (Retinitis Pigmentosa, Achromatopsia, Blue cone monochromacy) and of the optic nerve (Lebers Hereditary Optic Neuropathy LHON, Optic Atrophy Type Kjer ADOA).

Molecular Genetic Diagnostics

We offer molecular genetic analysis for the following disorders.

• Retinitis pigmentosa, autosomal dominant
  Gene: RHO, RDS, RP1, RP13



• Achromatopsia, autosomal recessive
  Gene: CNGA3, CNGB3



• Blue Cone monochromatism, X-chromosomal
  Gene: OPN1LW / OPN1MW



• Optic Atrophy Type Kjer, autosomal dominant
  Gene: OPA1



• Lebers hereditary Optic Neuropathy, mitochondrial
  Point mutations of the mitochondrial DNA (mtDNA): G11778A (MTND4-Gene), T14484C (MTND6-Gene), G3460A (MTND1-Gene)

For the analysis we need 2 X 10 ml EDTA-blood (small children: 2-5 ml) of the index patient and of the patient's parents if available. If you have any questions, please contact Dr. Susanne Kohl (Tel.: +49 7071 2980702, Fax.: +49 7071 295725, e-mail: susanne.kohl@uni-tuebingen.de) or Dr. Bernd Wissinger.