International Genetic Testing Labs

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
1. (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

2 .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
Tom Lettboer
Department of Medical Genetics
University Medical Center Utrecht
Universiteitsweg 100
3584 CG Utrecht, Netherlands

Email: T.G.W.Letteboer@umcutrecht.nl
Website: http://www.umcutrecht.nl/genome-diagnostics

FRANCE 
1. Laboratoire de Genetique Moleculaire
Group Hospitalier Pitié-Salpetriere
47-83 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 142177618
Website: http://www.cgmc-psl.fr

2. Docteurs Alain Calender et Sophie Giraud
Laboratoire de Genetique Moleculaire
Batiment 7
Hopital Edouard Herriot
69437 Lyon Cedex 03

Phone: 04.72.11.73.83
Fax: 04.72.11.73.81

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. Dr. Ana Fontalba
Laboratorio de Genetica Molecular
Hospital Universitario Marques de Valdecilla (Edificio IFIMAV)
Avda. de Valdecilla s/n
39008 Santander (Cantabria) SPAIN

Tel: +34 942 202520
Email: afontalba@humv.es; 

2. SECUGEN
C/Ramiro de Maeztu 9
Edificio C.I.B.
28040 Madrid SPAIN

Tel: +34 918 373112 ext. 4449
Fax: +34 915 338628 / +34 915 360432

3. Prof. Rogelio Gonzalez Sarmiento
Molecular Medicine Unit
Department of Medicine
Faculty of Medicine
University of Salamanca
Campus Miguel de Unamuno
SPAIN

Tel: +34 923294553

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.