There is no disease so rare
that it does not deserve attention

Caption : Accreditation = ;

• • 
  • Molecular diagnosis of Cockayne syndrome (ERCC6 and ERCC8 genes)
  • Southmead Hospital
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • More information
  • UNITED KINGDOM
  • Avon
  • BRISTOL
• • 
  • Molecular diagnosis of Cockayne syndrome (ERCC1, ERCC2, ERCC4, ERCC5, ERCC6, ERCC8 genes)
  • CeGaT GmbH
  • Purpose(s) : Post-natal diagnosis
  • More information
  • GERMANY
  • Baden-Württemberg
  • TÜBINGEN
• • 
  • Molecular diagnosis in case of Unexplained Deafness (exome sequencing)
  • Radboudumc - Radboud universitair medisch centrum
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • Objective(s) : Sequence analysis: entire coding region
  • Technical procedure(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)
  • More information
  • NETHERLANDS
  • Gelderland
  • NIJMEGEN
• • 
  • Molecular diagnosis of Cockayne syndrome (ERCC6, ERCC8 genes: sequencing)
  • Bioscientia Institut für Medizinische Diagnostik GmbH
  • Purpose(s) : Post-natal diagnosis
  • More information
  • GERMANY
  • Rheinland-Pfalz
  • INGELHEIM AM RHEIN
• • 
  • Molecular diagnosis of Cockayne Syndrome (ERCC6 and ERCC8 gene)
  • Erasmus MC, Faculteitsgebouw
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • More information
  • NETHERLANDS
  • Zuid-Holland
  • ROTTERDAM
• • 
  • Molecular diagnosis of Cockayne syndrome (ERCC6, ERCC8 genes)
  • Reference Laboratory Genetics
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • More information
  • SPAIN
  • Cataluña
  • L'HOSPITALET DE LLOBREGAT
• • 
  • Molecular diagnosis of Cockayne Syndrome (ERCC8 and ERCC6 gene)
  • Radboudumc - Radboud universitair medisch centrum
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
  • Technical procedure(s) : Sanger sequencing
  • More information
  • NETHERLANDS
  • Gelderland
  • NIJMEGEN
• • 
  • Molecular diagnosis of Cockayne syndrome (ERCC1, ERCC2, ERCC6, ERCC8 genes)
  • Pränatalmedizin München
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • Objective(s) : Sequence analysis: entire coding region
  • Technical procedure(s) : Sanger sequencing
  • More information
  • GERMANY
  • Bayern
  • MÜNCHEN
• • Molecular diagnosis of Cockayne syndrome (ERCC6, ERCC8 genes)
  • Praxis Dres. Gencik
  • Purpose(s) : Post-natal diagnosis
  • More information
  • GERMANY
  • Niedersachsen
  • OSNABRÜCK
• • Molecular diagnosis of Cockayne syndrome (ERCC6 gene).
  • Genetaq
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • More information
  • SPAIN
  • Andalucía
  • MÁLAGA
• • Preimplantation genetic diagnosis of Cockayne syndrome (ERCC6 gene)
  • Reprogenetics Spain S.A.
  • Purpose(s) : Pre-implantation diagnosis
  • Specialty(ies) : Molecular genetics
  • More information
  • SPAIN
  • Cataluña
  • BARCELONA
• • Molecular diagnosis of Cockayne syndrome (ERCC6, ERCC8 genes: sequencing)
  • Praxis für Humangenetik und Prävention
  • Purpose(s) : Post-natal diagnosis
  • More information
  • GERMANY
  • Baden-Württemberg
  • STUTTGART
• • Molecular diagnosis of Cockayne syndrome (ERCC1, ERCC6 & ERCC8 genes)
  • CHU de Strasbourg - Hôpital Civil
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • More information
  • FRANCE
  • ALSACE
  • STRASBOURG
• • Molecular diagnosis of Cockayne syndrome (ERCC2, ERCC5, ERCC6, ERCC8 genes)
  • Gemeinschaftspraxis für Humangenetik
  • Purpose(s) : Post-natal diagnosis
  • More information
  • GERMANY
  • Sachsen
  • DRESDEN
• • Molecular diagnosis of Cockayne syndrome (ERCC6 and 8 genes)
  • Praxis für Humangenetik
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • More information
  • AUSTRIA
  • WIEN
  • WIEN
• • Molecular diagnosis of Cockayne syndrome (ERCC8, ERCC6 genes / entire coding sequence)
  • Centro Inmunológico de Alicante (CIALAB)
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • Objective(s) : Sequence analysis: entire coding region
  • More information
  • SPAIN
  • Comunidad Valenciana
  • SANT JOAN D'ALACANT
• • Molecular diagnosis of Cockayne syndrome (ERCC6, ERCC8 genes)
  • IMEGEN - Instituto de Medicina Genómica
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • More information
  • SPAIN
  • Comunidad Valenciana
  • PATERNA
• • Molecular diagnosis of Cockayne syndrome (ERCC6, ERCC8 genes)
  • Centro de Diagnóstico Biomédico - CDB
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • More information
  • SPAIN
  • Cataluña
  • BARCELONA
• • Molecular diagnosis of Cockayne syndrome
  • CNR
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • More information
  • ITALY
  • LOMBARDIA
  • PAVIA
• • Cytogenetic diagnosis of Cockayne syndrome
  • Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Cytogenetics
  • Objective(s) : Detection of chromosome alterations large in size
  • Technical procedure(s) : Karyotyping
  • More information
  • ITALY
  • FRIULI VENEZIA GIULIA
  • UDINE
• • Molecular and functional diagnosis of Cockayne Syndrome (fibroblast function and CSA, CSB, XPG, XPD and XPB gene)
  • Erasmus MC - Erasmus Medisch Centrum
  • Purpose(s) : Post-natal diagnosis, Somatic genetics
  • Specialty(ies) : Molecular genetics, Biochemical genetics
  • Objective(s) : Analyte / Enzyme assay
  • More information
  • NETHERLANDS
  • Zuid-Holland
  • ROTTERDAM
• • Biochemical diagnosis of Cockayne Syndrome (Analyte: DNA-synthesis UV Recovery)
  • Erasmus MC, Faculteitsgebouw
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Biochemical genetics
  • Objective(s) : Analyte / Enzyme assay
  • More information
  • NETHERLANDS
  • Zuid-Holland
  • ROTTERDAM
• • Molecular diagnosis of Cockayne syndrome (entire coding sequence of ERCC6 and ERCC8 genes)
  • Laboratorio de Genética Clínica, S.L.
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • Objective(s) : Sequence analysis: entire coding region
  • More information
  • SPAIN
  • Madrid
  • SAN SEBASTIÁN DE LOS REYES
• • Preimplantation genetic diagnosis of Cockayne syndrome (ERCC6 gene)
  • Igenomix Spain
  • Purpose(s) : Pre-implantation diagnosis
  • Specialty(ies) : Molecular genetics
  • More information
  • SPAIN
  • Comunidad Valenciana
  • PATERNA