Genetic analysis for patients living in Countries where Lab’s facilities are not present

For patients with a strong clinical suspicion of a given genetically-determined disease living in Countries in which the genetic analysis is not available, the link with laboratory available for free genetic analysis will be provided (see Table below) in accordance with standard clinical care.

In fact, no specific funding are provided by the Eurofever Project for the coverage of the costs related to the genetic analysis. This benefit is provided by the Laboratories linked to the Eurofever project for the Centers involved in the Eurofever Project.

How to ask for a free genetic test in suspected patients?

1) The Centre must be officially involved in the Eurofever Project*.

2) The Center in charge of the patient have to send via e-mail a brief summary of the main characteristic of the patient to the Disease-PI and to one of the Laboratories where the molecular analysis for the given gene is available (please check if the patient fulfil the Inclusion Criteria for the given disease as reported in the Study’s Protocol)

A free genetic test will be provided only after approval of Disease-PI and/or Laboratory. All the costs related to sample shipping (including customs fees) will be covered by the Centre taking care of the patient.  

List of genes available, disease-PI’s addresses and Laboratories

GENE

DISEASE

DISEASE-PI

LABORATORIES

TNFRSF1A

TRAPS

Marco Gattorno, Patricia Woo

Montpellier
Barcelona
Genoa
Utrecht
Larissa

MVK

MKD

Joost Frenkel

Montpellier
Barcelona
Genoa
Utrecht
Larissa

NLRP3/NALP3

CAPS

Benedicte Neven

Montpellier
Barcelona
Genoa
Utrecht
Larissa

NOD2

BLAU

Carine Wouters, Carlos Rose

Montpellier
Barcelona
Portland
Utrecht

MEFV 

FMF

Seza Ozen, Huri Ozdogan

Montpellier
Ankara
Utrecht
Larissa

NLRP12/NALP12

NLRP12

Marco Gattorno, Veronique Hentgen

Montpellier
Genoa
Barcelona

PSTPIP1

PAPA

Fabrizio De Benedetti

Montpellier
Rome
Utrecht

IL1RN

DIRA

Joost Frenkel

Montpellier
Barcelona
Utrecht

LPIN2

MAJEED

 

Montpellier

*Note: If you are not a member of the PRINTO network and wish to have more information on the Registry or other initiatives linked to the Eurofever Project, please write to marcogattorno@ospedale-gaslini.ge.it (Disease PI: Marco Gattorno) or  to printo@ospedale-gaslini.ge.it (Research Assistant: Eugenia Mosci)

FRANCE: Montpellier

 

NAME OF CONTACT

Isabelle Touitou

NAME OF THE LAB

Unitè médicale des maladies auto- inflammatoires, Laboratoire de génétique.

COMPLETE ADDRESS

Hôpital Arnaud de Villeneuve
34295, Montpellier Cedex 5
France

E- MAIL

umai@igh.cnrs.fr

TELEPHONE N

+33 467 3358 56 or 57

GENES SCREENED

MEFV 
MVK
TNFRSF1A
NLRP3 ( CIAS 1)
NLRP12 (NALP 12)
PSTPIP1
IL1RN
NOD2 (CARD 15)
LPIN2


ITALY: Rome

 

NAME OF CONTACT

Fabrizio De Benedetti or Leila E. D’ Urbano

NAME OF THE LAB

Laboratory of rheumatology

COMPLETE ADDRESS

Research Laboratory – Padiglione Giovanni Paolo II
IRCCS Ospedale Pediatrico Bambino Gesù,
Roma
ITALY

E- MAIL

fabriziodebenedetti@opbg.net

TELEPHONE N

+39 06 6859 2659

GENES SCREENED

PSTPIP1


SPAIN: Barcelona

 

NAME OF CONTACT

Juan I. Aróstegui
Jordi Yagüe

NAME OF THE LAB

Unidad de Enfermedades Autoinflamatorias
Servicio de Inmunología
Hospital Clínic

COMPLETE ADDRESS

Unidad de Enfermedades Autoinflamatorias
Servicio de Inmunología
Hospital Clínic
Villarroel, 170
08036-Barcelona
SPAIN

E- MAIL

jiaroste@clinic.ub.es
yague@clinic.ub.es

TELEPHONE N

Juan I. Aróstegui: +34 93 227 54 00 ext 2195
Jordi Yagüe: +34 93 227 54 63

GENES SCREENED

TNFRSF1A
MVK
NLRP3
NOD2
IL1RN


USA: Portland (Oregon)

 

NAME OF CONTACT

Tammy M Martin

NAME OF THE LAB

Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, US

COMPLETE ADDRESS

Tammy Martin
Oregon Health & Science University
Mail code L467AD
3181 SW Sam Jackson Park Road
Portland, Oregon, USA 97239-3098

E- MAIL

Tammy.m.martin@gmail.com

TELEPHONE N

503-494-3372 (office)
503-494-6875 (fax)
503-494-3689, or toll-free within the US: 866-338-3789 (Study coordinator) 

GENES SCREENED

NOD2


ITALY: Genoa

 

NAME OF CONTACT

Isabella Ceccherini

NAME OF THE LAB

Lab Genetica Molecolare            
Istituto Giannina Gaslini

COMPLETE ADDRESS

Istituto Giannina Gaslini
Largo Gerolamo Gaslini 5
16147 Genova
ITALY

E- MAIL

isa.c@unige.it

TELEPHONE N

Tel +39 010 5636800
Fax +39 010 3779797

GENES SCREENED

MVK
TNFRSF1A
NLRP3/CIAS1
NLRP12


TURKEY: Ankara

 

NAME OF CONTACT

Prof. Dr. Engin Yilmaz

NAME OF THE LAB

Department of Medical Biology, Molecular
Genetics lab.

COMPLETE ADDRESS

Hacettepe University Faculty of Medicine Department of Medical Biology
06100 Sıhhiye - Ankara/Turkey

E- MAIL

eyilmaz@hacettepe.edu.tr

TELEPHONE N

+90 312 305 25 41

GENES SCREENED

MEFV


Netherlands: Utrecht

 

NAME OF CONTACT

Dr M. E. van Gijn

NAME OF THE LAB

Genome Diagnostics Section
DNA-diagnostics Laboratory
University Medical Center Utrecht

COMPLETE ADDRESS

KC04.084.2
P.O.Box 85090
3508 AB Utrecht
The Netherlands

E- MAIL

m.e.vangijn@umcutrecht.nl

TELEPHONE N

+31 887554090

GENES SCREENED

MVK
NLRP3
PSTPIP1
TNFRSF1A
MEFV
IL1RN
NOD2 (exon 4 only)


GREECE: Larissa

 

NAME OF CONTACT

Matthaios Speletas
Anastasios E. Germenis

NAME OF THE LAB

Department of Immunology & Histocompatibility
School of Medicine, University of Thessaly

COMPLETE ADDRESS

Department of Immunology & Histocompatibility
School of Medicine, University of Thessaly
411 10 Biopolis – Larissa
GREECE

E- MAIL

maspel@med.uth.gr
agermen@med.uth.gr

TELEPHONE N

Tel +30 2410 685718
Fax +30 2410 685695

GENES SCREENED

MVK
TNFRSF1A
NLRP3/CIAS1
MEFV