For doctors
The Institute of Human Genetics at the Medical University of Innsbruck, as the Centre of Medical Genetics Innsbruck (ZMGI), assumes all tasks of medical-genetic patient care for the west of Austria and, in the case of special questions, beyond. This includes:
- Extensive outpatient services for people with (questionable) genetic diseases or affected relatives;
- Medical-genetic consultations in Innsbruck, Feldkirch, Zams, Lienz and other clinics;
- All diagnostically relevant genetic laboratory analyses, mostly in our own laboratories or by dispatch to national and international partners.
Here you will find information on:
Clinical questions and diagnostic range
Referral of a patient to our outpatient clinic
Information on how to request a laboratory analysis
If you would like to refer a patient to our outpatient clinic:
The medical-genetic consultation serves to recognise and understand genetic causes of diseases as well as hereditary disease risks, to make a diagnosis and to draw the individually correct consequences for therapy and management. It usually takes place in our own outpatient department. Further information can be found here.
The following documents are necessary for the presentation in our outpatient clinic.
- Medical referral (form from a panel doctor, if necessary our request form)
- If possible, complete preliminary reports, doctor’s letters, etc.; it helps us if we receive the documents by post before the appointment.
The appointment for the outpatient clinic is usually made by the patients themselves by telephone (0512-9003-70531).
All contents of the outpatient clinic presentation are summarised after the appointment in a generally comprehensible counselling letter to the person seeking advice and usually in a separate doctor’s letter.
If you would like to request a consultation:
Medical-genetic consultations are typically carried out for inpatients at Innsbruck University Hospital or other hospitals. They are carried out at the request of the attending physicians. The main focus is the physical examination with a view to dysmorphia as an indication of possible genetic diseases and the short-term planning of further analyses. Genetic counselling of those affected is not part of a consil; a separate referral to our outpatient clinic is necessary for this.
Documents for the consultation request:
- You can find the form for requesting a consultation here. Please send by fax to 73510; external consults should be discussed by telephone (0512-9003-70531).
If you would like to request a laboratory analysis:
In genetic laboratory diagnostics, cytogenetics is traditionally distinguished from molecular genetics. With the introduction of new genetic analysis methods, the boundaries between these fields are becoming blurred. The term cytogenetics refers to the study of chromosomes, their structure and the associated inheritance mechanisms. The main methods are classical chromosome analysis, fluorescence in situ hybridisation (FISH) and DNA array analysis. Molecular genetics deals with the genetic text at the level of the nucleic acids DNA and RNA. The most important current analytical method is massively parallel sequencing (Next Generation Sequencing, NGS); in addition, there is a wide range of special analyses for the most diverse questions. Tumour genetics refers to the analysis of tumours, traditionally cytogenetics and molecular genetics of haematological neoplasms, but also genetic analyses in solid tumours in close cooperation with pathology. Biochemical genetics performs metabolic analysis for diagnosis and management of inherited diseases.
Information on the diagnostic laboratory areas can be found here:
The following documents are usually necessary for genetic laboratory diagnostics:
- Completed request form with information on the indication for the analysis as well as on the assumption of costs
- Completed consent form of the person to be examined with details of the specialist genetic counselling required for the analysis, etc.
- If possible, comprehensive preliminary reports, doctor’s letters, etc.
Special request forms as well as specialist medical information on various topics of medical-genetic diagnostics can be found here.
Please note our manual on primary sample collection!
- For constitutional molecular genetic analyses (incl. DNA array), EDTA whole blood is usually used!
- Heparin whole blood is necessary for classical cytogenetics and FISH analyses!
- Special acceptance conditions apply for special questions!
You can find more detailed information on medical genetics as a medical subject here.