Abbreviate lengthy diagnostic paths
There are more than 8,000 rare diseases. Most of them are genetically determined and already occur in childhood. In most cases their symptoms are diverse and unspecific. This makes diagnosis a major challenge. With the help of our genetic testing, disease triggers can be found more quickly and the diagnostic odyssey can be shortened.
With knowledge of the causal genetic change, doctors can initiate preventive measures at an early stage, find therapies and plan accompanying medical care. Even if only a few therapies are available so far, a diagnosis is often a relief for patients and their families. This opens the doors to self-help groups and patients no longer feel labelled as simulators.
It is decisive to have a sensitive intuition to think of a genetic cause in a specific patient case. For example,
- when peculiarities accumulate
- for facial abnormalities
- if genetic diseases are already suspected or known in a family
- for an unexplained muscle disease
- for diseases of the nervous system
- familial accumulation of tumours
- after a strained pregnancy.
In complex and rare diseases, the interdisciplinary exchange between experts from different disciplines is essential for diagnostic success.
Our wide range of diagnostic services and methods covers all medical disciplines. We are happy to assist you in advance with the appropriate use of genetic diagnostics. Thanks to many years of experience in examination and consultation, we are familiar with many genetic rare diseases. We offer our personal and detailed genetic counselling at four locations in Germany to people seeking advice, patients and their relatives.
Even though the individual diseases are rare, many people are affected in total. Every day we get to know new patient cases that confirm this. Together, we can ensure that more patients are diagnosed in the future.
Do you have a suspicion? Then get us involved: 06132 781 240. We would be pleased if you contact us.
Rare Disease Day
Since 2008, the Rare Disease Day has been used to raise public awareness of the needs of those affected by rare diseases. The rarest day of the year, 29 February, was deliberately chosen. In non-leap years, Rare Disease Day falls on 28 February. You can find out more at www.rarediseaseday.org/