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The EURO-WABB Project

An EU Rare Diseases Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes.

Breadcrumbs

European Genetic Diagnostic Laboratories

The laboratories below are able to support genetic diagnostic testing for one or more of the WABB syndromes

Key: MLPA = Multiplex Ligation-dependent Probe Amplification, MA = Micro Array, DS = Direct Sequencing, NGS = Next Generation Sequencing

Laboratory Name Contact Person / Website Genetic Testing For Testing Method Accreditation Able to accept EU and Non-EU Samples
Bioscientia, GERMANY Carsten Bergmann, This email address is being protected from spambots. You need JavaScript enabled to view it. , www.bioscinentia.de/de/diagnostic/humangenetik Wolfram, Alstrom, Bardet-Biedl MLPA, MA, DS and NGS (W), MA, DS and NGS (A),(BB) Yes - ISO, EMQN, DGKL, CAP Yes
Department of Medical Genetics, University of Antwerp, BELGIUM Wim Wuyts, This email address is being protected from spambots. You need JavaScript enabled to view it. Wolfram DS TBC Yes
Department of Molecular Genetics, University of Exeter, UK Sian Ellard, This email address is being protected from spambots. You need JavaScript enabled to view it. Wolcott Rallison and Thiamine Responsive Megaloblastic Anaemia DNA Sequencing Yes - CPA Yes
Laboratory of Immunopathology and Genetics, Medical University of Lodz , POLAND Maciej Borowiec, This email address is being protected from spambots. You need JavaScript enabled to view it. Wolfram and Alstrom MLPA and DS Yes - ISO, EMQN, Polish Society of Human Genetics Yes
North East Thames Regional Molecular Genetics Laboratory, UK Sam Loughlin, This email address is being protected from spambots. You need JavaScript enabled to view it. , http://www.labs.gosh.nhs.uk/laboratory-services/genetics/tests/bardet-biedl-syndrome Bardet-Biedl NGS and Sanger sequencing Yes Yes
Padua University, ITALY Pietro Maffei, This email address is being protected from spambots. You need JavaScript enabled to view it. , Gabriella Milan, This email address is being protected from spambots. You need JavaScript enabled to view it. Alstrom DS TBC Yes
Radboud University Nijmegen Medical Centre, NETHERLANDS L. Hoefsloot, This email address is being protected from spambots. You need JavaScript enabled to view it. Wolfram, Alstrom and Bardet-Biedl DS and MLPA (W),DS (A), DS Asper chip (BB) Yes - CCKL Yes
Service de Genetique Moleculaire, CHU Nice, FRANCE Mickael Vivien, This email address is being protected from spambots. You need JavaScript enabled to view it. Wolfram, Mitochondrial Diabetes DS(W), DS and Surveyor (Mit. Diabetes) Yes Yes
Universidad de Vigo, SPAIN Diana Valverde, This email address is being protected from spambots. You need JavaScript enabled to view it. Alstrom and Bardet-Biedl DS and MA No Yes
West Midlands Regional Genetics Lab, UK Fiona MacDonald, This email address is being protected from spambots. You need JavaScript enabled to view it. Wolfram and Alstrom DS and MLPA (W), DS (A) Yes - CPA Yes
Mitteldeutscher Praxisverbund Humangenetik, GERMANY Steffi Herbst, This email address is being protected from spambots. You need JavaScript enabled to view it. Wolfram DS and MLPA Yes Yes
Wilhelm Johannsen Centre for Functional Genomics , DENMARK Lisbeth Tranebjaerg, This email address is being protected from spambots. You need JavaScript enabled to view it. Wolfram TBC Yes Yes