HHT Foundation International

HHT Genetic Testing Worldwide

www.orpha.net French Site hosting information about European Laboratories

www.GeneTests.org University of Washington maintains list of worldwide clinics & labs engaged in testing and research. It gives an authoratative review by Alan Guttmacher and Jamie McDonald.

DENMARK
Odense University Hospital

GERMANY – Lippspringe
Institute of Human Genetics
Heinrich-Düker-Weg 12
University of Göttingen
D-37073 Göttingen, GERMANY

Contact: Professor W. Engel
Tel: 0551/397590
Fax: 0551/399303
Website: http://www.humangenetik.gwdg.de/HG/1/index.php

GERMANY
Institut fur Immunologie und Genetik
Hellmut-Hartert-Strae 1
D-67655 Kaiserslautern GERMANY

Tel: 0049 (0)631/316770-0
Website: http://www.immungenetik-kl.de/

THE NETHERLANDS
Visitor Address: UMC Utrecht location WKZ
Lundlaan 6
Utrecht, Netherlands

Post Address: Huispostnummer: KC.04.084.2
P.O. Box 85090
3508 AB Utrecht
Netherlands

Tel: +31 88 7553800
Fax: +31 88 7553801
Email: J.K.PloosvanAmsel@umcutrecht.nl; T.G.W.Letteboer@umcutrecht.nl
Website: http://www.umcutrecht.nl/genome-diagnostics

PARIS, FRANCE
Oncogenetics and Angiogenetics Laboratory
Bat la Peyronie 10
GH Pitié-Salpetriere
47, boulevard de l’Hopital
75651 Paris Cedex 13

Contact: Dr. Florence Coulet Email: florence.coulet@psl.aphp.fr
Pr. Florent Soubrier Email: florent.soubrier@psl.aphp.fr 
Secretary: +33 142177664
Fax: +33 142177600
Website: http://www.cgmc-psl.fr

SCOTLAND
SE Scotland Genetic Service
Western General Hospital
Crewe Road
Edinburgh EH4 2XU

Contact: Dr. Mary Porteous Email: mary.porteous@ed.ac.uk
Tel: 0131 651 1012
Fax: 3131 651 1013

SPAIN
1. Laboratorio de Genetica Molecular
Hospital Universitario Marques de Valdecilla
Dr. Ana Fontalba and Dr. Fernandez Luna
Avda. de Valdecilla 25. Edificio de Enfermeria.
39008 Santander (Cantabria) SPAIN

Tel: +34 942 202520
Email: afontalba@humv.es; rzarrabeitia@hsll.scsalud.es (coordination)

2. Centro de Investigaciones Biologicas, CSIC (RESEARCH LAB)
Dr. Luisa Botella
C/Ramiro de Maeztu 9
28040 Madrid SPAIN

Tel: +34 918 373112
Fax: +34 915 360432

Testing vs. Screening

Individuals who are known to have HHT need to be screened for internal manifestations of the disease, particularly its lung and brain manifestations. In the past, most members of a family with HHT were encouraged to undergo such screening. There was no way to tell with certainty that someone without visible outward symptoms did not have the disorder. Because sudden and tragic consequences (e.g. stroke, brain hemorrhage, brain abscess) could result if someone with such internal manifestations of HHT was not checked and treated, screening was strongly encouraged for all members of an HHT family.

Now genetic testing is available. This means that those without symptoms, particularly children, can be tested to see if they carry the gene. If they do not, then screening is not necessary. If they do, it certainly will be.

Many families affected by HHT are interested in genetic testing, and are anxious to have the testing done as soon as possible. The information below is meant to answer some of the questions that are asked about genetic testing for HHT. Although genetic testing is usually performed on a blood sample it is not 'just a simple blood test.' It actually takes planning and coordination within a family. Our experience is that a family is well served by consulting a genetics clinic in their area, or an HHT Center, for help planning, coordinating and accurately interpreting genetic testing. Very few physicians outside a genetics clinic or HHT center are able to implement and interpret genetic testing for a rare, complex condition such as HHT.

Note: Please click on the link called 'Understanding the Genetics of HHT' which provides some background genetic information about HHT. It may be helpful to read this before reading the information below which focuses on the 'whys and hows' of clinical genetic testing.