About 80% of rare diseases, corresponding to some 8.000 entities, have a genetic – monogenic – basis. In recent years, high-throughput sequencing technologies, collectively termed next-generation sequencing (NGS), have revolutionized genetic diagnostics. Virtually all inherited diseases, and in particular those that may result from mutations in one of many genes, have now become accessible to genetic diagnostics.
We offer genetic testing to patients and their family members who decide to opt for this after genetic counselling in our centre, but we also analyse samples from external patients sent to us by physicians from all medical disciplines. We primarily apply NGS, but where appropriate, we also use conventional methods such as Multiplex Ligation-dependent Probe Amplification (MLPA) and Sanger sequencing.
We provide the necessary information on the options of molecular genetic analysis to patients and their physicians, taking into account their individual situation and the coverage of the costs by their health insurers.
Evaluation and interpretation of genetic data are conducted by our experienced scientists and medical geneticists, following international guidelines.
- Single-gene analysis
- Gene-panel analysis
- Exome sequencing, either "clinical exome" (coding sequences/cds of known disease genes) or whole-exome sequencing (cds of all human genes), WES
Whole-genome sequencing (WGS) can be useful in selected cases where no mutations could be detected by any the aforementioned methods.
- Exclusion of differential diagnoses, avoiding expensive and stressful diagnostic odyssees (e.g. imaging, hospitalizations, biopsies)
- Personalized medicine: individual selection of prophylactic or therapeutic strategies
- Precise determination of recurrence risks; option of prenatal testing or preimplantation diagnosis
- Targeted molecular testing for those with an increased risk to have inherited a familial mutation (carriers for recessive or X-linked mutation; carriers for late onset disorders such as neurodegeneration or tumor predisposition)
Our team has long-term experience and extensive expertise in molecular genetic diagnostics, and we offer analyses for virtually all organ systems that may be affected by inherited diseases, for example:
- Tumor predisposition, e.g. familial breast-, ovarian and colon cancer
- Neurosensory disorders, in particular syndromic and non-syndromic hearing impairment and eye diseases (like retinal dystrophies)
- Neuromuscular disorders, e.g. malignant hyperthermia, myopathies, muscular dystrophies
- Mental retardation/psychomotor developmental delay
- Dysmorphology syndromes
- Disorders of connective tissue, such as Marfan and Ehlers Danlos syndrome
- Cardiogenetic disorders: Congenital heart disease, cardiomyopathies, arryhthmias
- Pulmonary diseases, e.g. cystic fibrosis
- Kidney diseases, e.g. polycystic kidney disease, Alport syndrome
- Neurogenetic disorders, e.g. epilepsy, ataxia, hereditary motor and sensory neuropathy (HMSN)
Whenever required for the benefit of your patients, we can draw on close links with many clinical and research colleagues worldwide, each of them an expert in their own field.
Our team at the Senckenberg Centre for Human Genetics conducts genetic counselling and diagnostic analyses for virtually every genetic disorder. However, there are areas of special expertise concerning particular disease groups - namely deafness, eye diseases, neurogenetic disorders (including developmental delay/mental retardation), congenital malformation syndromes and genetic tumour predisposition. There has been long-standing diagnostic and scientific activity of our physicians and scientists, and the latter is reflected by the identification of several new genes associated with isolated and syndromic hearing impairment, retinal degeneration and various syndromes.
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.