Molecular genetics

A simple molecular genetic investigation can lead to early diagnosis of a few mitochondrial syndromes with clear indications. However, an extensive molecular genetic screening is costly and frequently insufficient due to the numerous candidate genes involved. Furthermore, newly discovered mutations are often unclear as normal genetic variants (polymorphisms) are also discovered. Mutation diagnostics are therefore only usually indicated where there is a clear biochemical diagnosis.

back to

• Diagnosis

• Diagnostic work up

• Ergometry

• Apparative diagnostics

• Biopsy

• Biochemical investigations

• Morphology