Disorders of the nervous system
Numerous disorders of the nervous system such as developmental delay, intellectual disability, epilepsy, autism, neuromuscular and neurodegenerative diseases may be due to genetic causes. Neurological manifestations with a wide spectrum of symptoms and severity are observed in many of the 8.000 diseases with assumed monogenic inheritance, and they may be part of a syndrome that affects organs outside the nervous system.
Neurogenetic disorders often display extensive genetic heterogeneity, i.e. hundreds or even thousands of genes have to be taken into account. Hence, making a clinical diagnosis may be difficult.
For the patients, a genetic diagnosis may avoid stressful and expensive further examinations (e.g. imaging, repeated hospitalizations, extensive laboratory analyses) and pave the way for an anticipatory disease management (also in cases, where no possibilities for a causal therapy are available).
In addition, the results provide important information about the recurrence risk that play a pivotal role for further family planning. In some cases, like certain defects of metabolism, ion channel and mitochondrial diseases, genetic diagnosis may also enable therapeutic options.
Further special expertise
Hearing loss is the most common sensory deficit in humans, affecting approximately 1 in 500 newborns. Deafness has a genetic basis in two-thirds of patients.
Inherited eye diseases
Many eye diseases have a genetic basis. The knowledge of the underlying gene defect has far-reaching consequences for the individual medical care and guidance of patients and their families.
Familial clustering of cancers may indicate that hereditary factors play an important role for cancer development in such families. Genetic counselling and molecular genetic diagnostics may enable targeted preventive screening measures and might be important for individual treatment in some tumour entities.
Malignant hyperthermia (MH) is a hereditary metabolic myopathy triggered by certain anaesthetics. The molecular genetic testing in patients with suspected MH and the predictive genetic testing of at-risk asymptomatic family members enables an accurate diagnosis with just a blood sample.