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 |
Montpellier |
|
MVK |
MKD |
Montpellier |
|
NLRP3/NALP3 |
CAPS |
Montpellier |
|
NOD2 |
BLAU |
Montpellier |
|
MEFV |
FMF |
Montpellier |
|
NLRP12/NALP12 |
NLRP12 |
Montpellier |
|
PSTPIP1 |
PAPA |
Montpellier |
|
IL1RN |
DIRA |
Montpellier |
|
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 |
E- MAIL |
|
TELEPHONE N |
+33 467 3358 56 or 57 |
GENES SCREENED |
MEFV |
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 |
E- MAIL |
|
TELEPHONE N |
+39 06 6859 2659 |
GENES SCREENED |
PSTPIP1 |
SPAIN: Barcelona |
|
NAME OF CONTACT |
Juan I. Aróstegui |
NAME OF THE LAB |
Unidad de Enfermedades Autoinflamatorias |
COMPLETE ADDRESS |
Unidad de Enfermedades Autoinflamatorias |
E- MAIL |
|
TELEPHONE N |
Juan I. Aróstegui: +34 93 227 54 00 ext 2195 |
GENES SCREENED |
TNFRSF1A |
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 |
E- MAIL |
|
TELEPHONE N |
503-494-3372 (office) |
GENES SCREENED |
NOD2 |
ITALY: Genoa |
|
NAME OF CONTACT |
Isabella Ceccherini |
NAME OF THE LAB |
Lab Genetica Molecolare |
COMPLETE ADDRESS |
Istituto Giannina Gaslini |
E- MAIL |
|
TELEPHONE N |
Tel +39 010 5636800 |
GENES SCREENED |
MVK |
TURKEY: Ankara |
|
NAME OF CONTACT |
Prof. Dr. Engin Yilmaz |
NAME OF THE LAB |
Department of Medical Biology, Molecular |
COMPLETE ADDRESS |
Hacettepe University Faculty of Medicine Department of Medical Biology |
E- MAIL |
|
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 |
COMPLETE ADDRESS |
KC04.084.2 |
E- MAIL |
|
TELEPHONE N |
+31 887554090 |
GENES SCREENED |
MVK |