Lynch syndrome (HNPCC)*

Required sample material

Molecular genetic analysis:
3-7 ml EDTA blood or extracted DNA

Sample dispatch

EDTA blood samples and extracted DNA for molecular genetic tests 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 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: 120435, 609310, 614350

Test method:
Complete mutation search in the MLH1 gene(19 exons), MSH2 gene(16 exons) and MSH6 gene(10 exons) by sequencing. Additional MLPA possible for all three genes.

Note:
An MSI/immunohistochemical analysis of the tumour tissue should be performed prior to molecular diagnostics.
An interdisciplinary consultation (gastroenterology, human genetics, possibly psycho-oncology) must have taken place before predictive testing.
Please also note that we must have received the patient's declaration of consent for molecular HNPCC diagnostics before starting predictive testing. The declaration of consent is part of our request form.

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

Contact person

* non-accredited examination systems