Huntington's disease (Huntington's disease)

Required sample material

Molecular genetic analyses:
3-7 ml EDTA blood

Sample dispatch

EDTA blood samples 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.

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: 143100

Test method:
Determination of the repeat length of the CAG repeat in the HTT gene using PCR and fragment analysis.

Note:
An interdisciplinary consultation (neurology, human genetics, psychosomatics) must have taken place before predictive testing.
Please also note that we must have received the patient's declaration of consent for DNA diagnostics for Huntington's disease before starting predictive testing. The declaration of consent is part of our request form.

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

Contact person