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Selective contract according to §140a SGB V
for genome-wide diagnostics in patients with a suspected rare monogenic disease
The aim of this special care is to increase the diagnostic rate for patients with rare diseases and thus enable as many affected patients as possible to receive a clear diagnosis. This is the prerequisite for ending the diagnostic odyssey of those affected, better assessing the course and possible targeted therapies/studies and being able to determine the likelihood of recurrence. In addition to the individual examination, the results of the analyses and their phenotype-based interpretation are documented, jointly evaluated and reanalyzed in the course of all German Centers for Clinical Genomedicine.
At the ZSE of the MHH, patients can also be offered such a comprehensive genetic examination as part of clinical genomic medicine. After informing and obtaining the consent of outpatients with a suspected rare monogenic disease that could not be clearly diagnosed as part of standard care, the indication for genome-wide diagnostics is reviewed as part of an interdisciplinary case conference at the ZSE. After genetic analysis at the Institute of Human Genetics, the results are discussed and interpreted in the context of the clinical phenotype at the ZSE and then communicated to the patient by the attending physician.
Prerequisites for inclusion
- The MHH patient is insured with a health insurance company with a valid selective contract (see below)
- There is a suspicion of the presence of a rare disease with a monogenic cause, without a diagnosis from regular care and
- Further differential diagnostic examinations are not possible in regular care
Documents required for patient enrollment (internal MHH links, as of 05.02.2024)
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Declarations of participation and information letters (per participating SHI)
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Single/trio examination request including declaration of consent according to GenDG
Please note the overview of the patient pathway and the information on registering for the interdisciplinary conferences below.
Additional information and notes (internal MHH links)
Contact person
Dr. med. Tim Ripperger, PhD
Institute of Human Genetics, MHH
ripperger.tim@mh-hannover.de
Tel: 0511 - 532 1984 2