Molecular diagnostics and clinical genetics - for care providers
We conduct both laboratory and patient-orientated activities. We offer expertise in the prevention, diagnosis and follow-up of various genetic diseases. We serve the Uppsala-Örebro region and, for certain diagnoses, the whole country, and we are a medical service discipline for all specialities where genetic issues arise.
Molecular diagnostics and clinical genetics - for care providers
We conduct both laboratory and patient-orientated activities. We offer expertise in the prevention, diagnosis and follow-up of various genetic diseases. We serve the Uppsala-Örebro region and, for certain diagnoses, the whole country, and we are a medical service discipline for all specialities where genetic issues arise.
About our services
We carry out research and development, as well as training, for example of future doctors, biomedical analysts and genetic counsellors. Within the laboratory activities, different types of genetic analyses are performed for congenital and acquired (cancer) genetic conditions. The clinic has laboratories for cytogenetic diagnostics (chromosome analysis), molecular cytogenetic diagnostics (FISH analysis) and DNA and RNA diagnostics. For example, genetic analyses are carried out in prenatal diagnosis, diagnosis of various monogenic diseases, suspected chromosomal abnormalities and syndromes, infertility, as well as diagnosisof genetic abnormalities in leukaemia and bone marrow diseases.
The patient-oriented services consist of reception and consultation services and include assessment of genetic, or suspected genetic diseases, management of genetic investigations and genetic counselling. We see patients and families with various congenital genetic diseases and syndromes, and where familial cancer is suspected.
Research groups
At present, around 70 of us work in healthcare and another 15 or so work in research and development. Integration with Uppsala University Hospital and Uppsala University makes us a central part of translational research. An overarching goal is to clarify the function of genes and molecules in different disease mechanisms. Active participation in all relevant national working groups such as Rare Diagnoses (CSD), Cancer Genetics and Cardiogenetics within the Swedish Society for Medical Genetics, (SFMG), as well as haematological diagnosis groups within the Swedish Society for Haematology (SFH), is one of our highest priorities, so that research results with clinical impact can be confidently introduced into clinical reality and help optimise diagnosis and treatment.
Contact us
Telephone: 018-611 59 40
Telephone hours: Monday-Thursday 8am - 11am and 1pm-3pm, Fridays 8am - 11am
Fax: 018-55 40 25
Visiting address:
Rudbecklaboratoriet
Dag Hammarskjöldsväg 20 1tr
GPS coordinates:
Latitud: 59,845262
Longitud: 17,639815
Postal address:
Akademiska sjukhuset
Molekylär diagnostik och klinisk genetik
751 85 Uppsala
Referral information
All our referral information is in Swedish. You can contact us for help with referrals.
Range of analyses and sampling
If the requested analysis is not in the list below, please contact us. We can also forward samples to other laboratories for analysis if required.
- Analysutbud förvärvade sjukdomar -hematologi (pdf) (Range of analyses acquired diseases - haematology)
- Analysutbud konstitutionella sjukdomar (pdf) (Range of analyses on constitutional diseases)
- Hudbiopsi för fibroblastodling (pdf) (Skin biopsy for fibroblast culture)
Response procedures
You give the test results to the referring doctor or healthcare centre. In the first instance, test results are sent by letter or tube mail internally, but in urgent cases the laboratory can call or fax test results by arrangement.
You can also connect to our lab portal. You can then read the test results digitally as soon as we have signed them.
The laboratory does not normally release test results to patients. Exceptions are results of placental or amniocentesis tests, where results are normally sent to the mother, if requested. Patients requesting test results are referred in the first instance to the referring doctor/health unit. The laboratory's data are confidential, so information on test results is not shared with others.
Related information on external sites
Education and training
We are involved in the training of future doctors, biomedical scientists and biomedical analysts (BMA)
Biomedical Analyst Programme at Uppsala University (uu.se)
The medical programme at Uppsala University (uu.se)
Development
Development of new genetic diagnostics often takes place in collaboration with Clinical Genomics Uppsala, which is a collaboration between Uppsala University and Uppsala University Hospital, and part of the SciLifeLab research infrastructure.
Read more about Clinical Genomics Uppsala (uu.se).
Centre for Rare Disorders Central Sweden
Today, our main focus is on raising awareness in the field of rare diagnoses.
Find out more about CSD (csdsamverkan.se ).
Other
SciLifeLab (scilifelab.se )