Medical genetics employee sits in front of computer

Offer

Medical genetics deals with the causes, diagnosis and risk assessment of genetic diseases.

Medical genetics offers patients and doctors a wide range of services. It deals with the causes, diagnosis and risk assessment of genetic diseases before and after birth.

Clinical genetics/genetic counseling consultation hours

In the consultation hours for clinical genetics and genetic counseling, congenital malformations and developmental disorders are diagnosed and assessed under specialist supervision and familial risks for genetic diseases and predispositions are determined.

In particular, we co-ordinate the Center for Rare Developmental Disorders and are involved in other disease-specific centers such as those for rare bone diseases, kidney diseases and neuromuscular diseases at UKBB/USB. Another focus is on tumor predispositions, also in collaboration with the Tumor Center of the University Hospital.

Contact and inquiries
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This consultation is a specialist service for anyone who has a congenital malformation or developmental disorder or a genetic disease themselves or fears this for themselves or their offspring. In addition to the clinical diagnosis and determination of the causes of congenital developmental disorders, genetic counseling can help to answer questions in connection with a possible hereditary disease and thus support decision-making.

  • Survey of your own health history (anamnesis) and that of family members (family tree)
  • Physical examination if necessary
  • Information on general genetic risks and an assessment of the specific risk
  • comprehensive information about the underlying developmental disorder, malformation or disease
  • if you wish to have children or if you are already pregnant, information about the possibilities, limits and risks of prenatal diagnostics and pre-implantation diagnostics
  • if necessary or possible, blood sampling for further genetic laboratory diagnostics
  • If necessary, further examinations by other specialists

  • Appointments for medical genetics consultations are made by appointment through the medical genetics office.
    Medical referrals can be made by letter, fax or encrypted e-mail (HIN) together with the relevant documents; urgent appointments can also be made by telephone:

  • Tel. secretariat +41 61 265 36 20
  • Fax secretariat +41 61 265 36 21
  • E-mail secretariat: anmeldung.genetik@usb.ch

Consultation hours are offered by the following specialists:

  • Prof. Isabel Filges (Medical Director)
  • Prof. Dr. med. Dr. phil. Karl Heinimann (Deputy Medical Director)
  • Dipl.-Med. Dorothea Wand (Specialist)
  • Dr. Julie De Geyter (Senior Physician)
  • Prof. Peter Miny (Consultant physician)

Contact

The diagnostic laboratory uses the latest molecular and cytogenetic methods with the approval of the Federal Office of Public Health. FAMH laboratory managers supervise comprehensive pre- and postnatal chromosome examinations as well as those for myelo- and lymphoproliferative diseases. DNA tests are offered for numerous diseases, especially familial cancer predispositions, or referred to other specialized laboratories.

A chromosome analysis can be used for various prenatal, pediatric and adult issues. It provides information on the number and structure of chromosomes and, depending on the clinical question, can be carried out microscopically or molecularly using high-resolution microarray technologies. More frequent reasons for a chromosome examination can include an unfulfilled desire to have children, repeated miscarriages, developmental disorders and malformations. The laboratory has many years of expertise, particularly in the prenatal diagnosis of pregnancies with a high risk of chromosomal abnormalities, and has successfully participated in a large number of external quality controls/interlaboratory comparisons for many years.



Detailed information on the risk assessment of chromosomal abnormalities in pregnancy, conventional and molecular methods of chromosome examination and the safety of prenatal chromosome examinations under the microscope can be found below:

The Molecular Genetics Laboratory has a broad spectrum of current molecular genetic methods at its disposal to clarify a large number of monogenic hereditary diseases. Diagnostic focuses include hereditary tumor diseases, congenital thyroid dysfunction, polyneuropathies, connective tissue diseases and malformation syndromes/developmental disorders. Detailed information can be found under the following link:

Other genes as well as the clinical exome and trio analyses can be clarified on individual request. In addition to the classic analysis methods, such as Sanger sequencing, MLPA and marker analyses, the range of methods also includes the latest high-throughput sequencing techniques ("next generation sequencing").

The laboratory has many years of expertise and has successfully participated in a large number of external quality controls/interlaboratory comparisons for many years.

The tumor cytogenetics laboratory focuses on the cytogenetic diagnosis of hematological neoplasms.

The range of methods includes microscopic or molecular chromosome analysis using high-resolution microarrays, as well as specific clarifications using fluorescence in situ hybridization technology. The use of the various methods depends primarily on the respective clinical question and is also carried out in close cooperation with pathological and hematological laboratory diagnostics. An overview of the methods currently used in the laboratory for the diagnosis of hematologic neoplasia can be found here:

The laboratory has many years of expertise and has participated in the obligatory interlaboratory tests as part of external quality control for many years.

About us

As a university diagnostics service provider, we offer highly specialized diagnostics and genetic counselling for your patients throughout Switzerland. We - Laboratory Medicine, Pathology and Medical Genetics - work according to the motto "We work together for you" so that you can continue to concentrate fully on your patients. Personal support for digital order and result transmission tailored to your needs or comprehensive, coordinated sample logistics are just two of the many services you can expect from us.