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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.

TPL_EURO_WABB_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, Denne email adresse bliver beskyttet mod spambots. Du skal have JavaScript aktiveret for at vise den. , 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, Denne email adresse bliver beskyttet mod spambots. Du skal have JavaScript aktiveret for at vise den. Wolfram DS TBC Yes
Department of Molecular Genetics, University of Exeter, UK Sian Ellard, Denne email adresse bliver beskyttet mod spambots. Du skal have JavaScript aktiveret for at vise den. Wolcott Rallison and Thiamine Responsive Megaloblastic Anaemia DNA Sequencing Yes - CPA Yes
Laboratory of Immunopathology and Genetics, Medical University of Lodz , POLAND Maciej Borowiec, Denne email adresse bliver beskyttet mod spambots. Du skal have JavaScript aktiveret for at vise den. 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, Denne email adresse bliver beskyttet mod spambots. Du skal have JavaScript aktiveret for at vise den. , 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, Denne email adresse bliver beskyttet mod spambots. Du skal have JavaScript aktiveret for at vise den. , Gabriella Milan, Denne email adresse bliver beskyttet mod spambots. Du skal have JavaScript aktiveret for at vise den. Alstrom DS TBC Yes
Radboud University Nijmegen Medical Centre, NETHERLANDS L. Hoefsloot, Denne email adresse bliver beskyttet mod spambots. Du skal have JavaScript aktiveret for at vise den. 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, Denne email adresse bliver beskyttet mod spambots. Du skal have JavaScript aktiveret for at vise den. Wolfram, Mitochondrial Diabetes DS(W), DS and Surveyor (Mit. Diabetes) Yes Yes
Universidad de Vigo, SPAIN Diana Valverde, Denne email adresse bliver beskyttet mod spambots. Du skal have JavaScript aktiveret for at vise den. Alstrom and Bardet-Biedl DS and MA No Yes
West Midlands Regional Genetics Lab, UK Fiona MacDonald, Denne email adresse bliver beskyttet mod spambots. Du skal have JavaScript aktiveret for at vise den. Wolfram and Alstrom DS and MLPA (W), DS (A) Yes - CPA Yes
Mitteldeutscher Praxisverbund Humangenetik, GERMANY Steffi Herbst, Denne email adresse bliver beskyttet mod spambots. Du skal have JavaScript aktiveret for at vise den. Wolfram DS and MLPA Yes Yes
Wilhelm Johannsen Centre for Functional Genomics , DENMARK Lisbeth Tranebjaerg, Denne email adresse bliver beskyttet mod spambots. Du skal have JavaScript aktiveret for at vise den. Wolfram TBC Yes Yes