Osler-Rendu-Weber syndrome

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

Sample dispatch

EDTA blood samples or extracted DNA can be sent unrefrigerated by normal overnight post.

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

We offer diagnostics for the following genes to clarify Osler-Rendu-Weber syndrome:
ACVRL1 (ALK1), BMPR2, ENG, GDF2 (BMP9) and SMAD4

OMIM: 601284, 600799, 131195, 605120, 600993

Examination method:
All coding exons with adjacent intron segments are examined for pathogenic variants using next generation sequencing (individualised PAH multigene panel) of these 5 genes:
ACVRL1 (ALK1), BMPR2, ENG, GDF2 (BMP9) and SMAD4. The genes ACVRL1 (ALK1), BMPR2 and ENG are also analysed for large deletions and duplications using MLPA. Sanger sequencing is performed for known familial variants.

Note:
All genes can be sequenced, but only individual genes can be sequenced on request. Please note this clearly on our request form.

Processing time:
On average 6-8 weeks
In rare cases, the processing time may be delayed by approx. 2 weeks.

Contact person