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Laboratories
Published Mutations
Laboratories
Institution Contact Genetic Testing for
HBB HBA BPGM EPOR VHL PHD2 HIF2a Comments
Hematology Department, Centro Hospitalar e Universitário de Coimbra
PORTUGAL
Celeste Bento All exons All exons All exons Exon 7 - 8 All exons All exons Exon 9, 12
Institute for Clinical Transfusion Medicine and Immunogenetics (IKT Ulm) and Dept. of Pediatrics and Adolescent Medicine (Ped)
GERMANY
Klaus Schwarz (IKT);
Holger Cario (Ped)
All exons All exons No Exon 7 - 8 All exons All exons Exons 9-16
Belfast City Hospital
UK
Melanie Percy;
Mary Frances McMullin
All exons All exons No Exon 7 - 8 All exons Exons 1 - 4 Exon 12
MLL - Munich Leukemia Laboratory
GERMANY
Susanne Schnittger No No No Exon 8 All exons P317 and R371 only Exon 12
Inselspital Bern
SWITZERLAND
Naomi Porret;
Elisabeth Oppliger
No No No Exon 7 - 8 All exons No No
Hospital del Mar, Barcelona
SPAIN
Beatriz Bellosillo No No No Exon 8 All exons P317, R371 and flanking regions M535, G537 and flanking regions
Department of Woman, Child and General and Specialist Surgery, Second University of Naples
ITALY
Silverio Perrotta All exons All exons No Exon 7 - 8 All exons All exons Exon 9, 12
University Medical Center Utrecht
NETHERLANDS
Richard van Wijk All exons All exons All exons Exon 7 - 8 All exons All exons Exon 9, 12 EPOR exon 1-6 available on request
Dept of Medicine DIMED, Internal Medicine, University of Padua
ITALY
Maria Luigia Randi No No No Exon 8 All exons Exon 1, 2, 3 Exon 12
Center for Human Genetics, Molecular Haemato-oncology Unit, CHU Sart-Tilman, Liege
BELGIUM
Frédéric Lambert No No No Exon 7 - 8 All exons All exons Exon 12
Hematology Laboratory, Brest University Hospital
FRANCE
Valerie Ugo No No No Exon 7 - 8 No No No
Laboratoire de Génétique Moléculaire, Hôpital Européen Georges Pompidou, Paris
FRANCE
Anne-Paule Gimenez-Roqueplo No No No No All exons All exons Exon 12
Dept. of Biology (Bio), Dept. of Pediatrics (Ped), Faculty of Medicine and Dentistry, Palacky University and University Hospital
CZECH REPUBLIC
Vladimir Divoky (Bio);
Dagmar Pospisilova (Ped)
All exons All exons Not done Exon 7 - 8 All exons All exons Exon 9, 12
Instutite of Hematology and Blood Transfusion
CZECH REPUBLIC
Jiří Schwarz;
Jana Marková
Not done Not done Not done Exons 7 - 8 All exons Exons 2-4 Exon 12
Karolinska University Hospital, Stockholm
SWEDEN
Britta Landin;
Soheir Beshara
All exons All exons Exons 1,3,4 Exon 8 All exons Not done Not done
                 
 
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