- Alcohol intolerance, differential diagnosis
- Malignant hyperthermia, susceptibility; differential diagnosis
- Malignant hyperthermia/central core disease/multiminicore disease
- Myopathy, nemaline; differential diagnosis
- Myopathy, tubular aggregated; differential diagnosis
- Myotonia congenita
- Myotonia congenita, differential diagnosis
- Paralyse, hypokaliämische, periodische
- Paralysis, hypocaliaemic periodic; differential diagnosis
- Pierre-Robin sequence, differential diagnosis
Here you will find the disease-related gene panels available for the clinical area specified above.
If you cannot find the disease you are looking for, please use a known synonym in the search (also in English).
Molecular genetic diagnostics are used to clarify the hereditary causes of many diseases. The aim here is to identify deviations from the reference genome ("wild type") and then, if necessary, to distinguish between neutral variants and pathogenic mutations that are important for the physiological development and undisturbed functioning of the organism.
The inheritance patterns of genetically caused diseases are the basis of genetic counselling for patients, persons at risk and affected families. In the last 30 years, several thousand genes have been characterised which cause genetic diseases or contribute to the development of genetic disorders. Current results of genetic research have a direct impact on the diagnostic procedures in the laboratory and genetic counselling.
To what extent do genetic disorders play a role in anaesthesiology? Clearly, anatomical disorders and constrictions of the airway are directly relevant, such as cleft lip and palate, micrognathia, Apert and Coffin-Siris syndrome, Seckel and Treacher-Collins syndromes and many other rare anatomical changes. Congenital heart defects pose problems for anaesthesia, and pulmonary fibrosis and hepato-renal disorders can complicate perioperative management. Appropriate DNA diagnostic procedures are listed, for example, under the complex congenital developmental disorders.
The development of malignant hyperthermia (MH) incidents is generally feared as a veritable emergency in anesthesia. MH develops on the basis of a mostly subclinical myopathy with then disturbed calcium homeostasis. In everyday life, patients are usually completely symptom-free. Under general anaesthesia, certain trigger substances (volatile anaesthetics, succinylcholine) can trigger a crisis due to increased intracellular calcium, which manifests itself in skeletal muscle contractions and energy-metabolic derailment and might end fatally. The genetic predisposition exists in about 1/10 000 patients, severe MH crises are rare with 1/250 000-500 000 general anaesthesias. Special care should be exerted in all muscle diseases with disturbed neuromuscular transmission such as myotonic syndromes and myopathies. These possibilities are taken into account by compiling corresponding gene panels especially for the field of anaesthesiology.