Rubinstein-Taybi syndrome*

Required sample material

Molecular cytogenetic analysis:
Heparin blood (adults 5-7 ml, children 3-5 ml, newborns 1-2 ml)
NH4 heparinate S monovettes (Sarstedt REF 01.1603) or disposable syringes with approx. 20 to max. 200 µl heparin sodium (5000 I.U./ml) (final concentration 10 to max. 100 I.U. heparin/ml sample material). Please do not send Li heparin or EDTA blood!

Alternatively: cell suspension with high mitotic index in methanol/glacial acetic acid.

Sample dispatch

The material should be sent uncooled by express. The sample transport time is of great importance in cytogenetics, as cell cultures have to be created here. All samples should therefore arrive at our laboratory the day after collection.

Please send the samples to the following address:

Heidelberg University Hospital
Institute of Human Genetics
Cytogenetic Laboratory
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 cytogenetics and FISH diagnostics

Further information

OMIM:180849

Test method:
A 16p13.3 microdeletion can only be detected by FISH analysis. This deletion is found in 10-15% of all patients. In all cases, however, we recommend having an additional chromosome analysis carried out to rule out structural changes.

Processing time:
Molecular cytogenetic analysis: 1-2 weeks after receipt of order
Cytogenetic analysis: 4 days to 4 weeks (depending on urgency and sample volume)

Contact persons

* non-accredited examination systems