Tuberous sclerosis

Required sample material

Molecular genetic testing:
3-7 ml EDTA blood (for small children a smaller amount of blood 1-3 ml is usually sufficient)
or extracted DNA

Molecular genetic prenatal diagnostics:
15-20 mg chorionic villus tissue or
15-20 ml amniotic fluid
In addition, blood or DNA from the pregnant woman (to rule out maternal contamination)

Sample dispatch

EDTA blood samples and extracted DNA for molecular genetic analyses can usually be sent unrefrigerated by normal post, as the DNA extracted from the leucocytes is very stable. Intermediate storage (max. 7 days) should take place in the refrigerator.

Material for molecular genetic prenatal diagnostics and material for molecular cytogenetics (FISH diagnostics) should be sent unrefrigerated by express mail. The sample transport time is of great importance, as cell cultures almost always have to be created. The test material should reach the laboratory within 24 hours.

Please send the samples to the following address:

Heidelberg University Hospital
Institute of Human Genetics
Laboratory for Molecular Genetic Diagnostics
Im Neuenheimer Feld 366
69120 Heidelberg

Sample labelling

Please label each sample container clearly with the surname, first name and date of birth of the patient and use our request forms.

The request forms are structured in such a way that we have all the necessary information about the patient and the patient consent form (where required) for the examination order.

Please complete the request forms carefully to avoid unnecessary enquiries and please understand that we cannot accept unlabelled sample containers.

Please bear in mind that we can only carry out genetic analyses if we have the patient's written consent!

Request form for molecular genetics (German) (English)

Further information

OMIM: 605284, 191092

Test method:
Complete variant screening in the TSC1 and TSC2 gene (62 coding exons) using Sanger sequencing and MLPA or detection of the (probably) pathogenic variants known in the family.

Processing time: 1-8 weeks on average
In rare cases, the processing time may be delayed by approx. 2 weeks.

Contact person