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48 Result(s)

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Purpose(s)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, SMAD3, TGFB2, TGFBR1, TGFBR2 genes)
    • Medizinische Hochschule Hannover
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Niedersachsen
    • HANNOVER
    • Accreditation
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, TGFBR1, TGFBR2 genes)
    • Praxisgemeinschaft für Laboratoriumsmedizin und Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • KÖLN
    • Accreditation
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, TGFBR1, TGFBR2 genes)
    • Mitteldeutscher Praxisverbund Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Accreditation
    • Molecular diagnosis of Marfan and Marfan-like syndromes (FBN1, TGFBR1, TGFBR2, MYH11, ACTA2 genes: CSCE, MLPA and sequencing)
    • Salisbury District Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : MLPA based techniques
    • More information
    • UNITED KINGDOM
    • Wiltshire
    • SALISBURY
    • Accreditation
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, TGFBR1, TGFBR2 genes)
    • Medizinisches Versorgungszentrum Humane Genetik
    • 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
    • Accreditation
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, TGFBR1, TGFBR2 genes)
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, FBN2, TGFBR1, TGFBR2 genes)
    • Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
    • 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
    • MARTINSRIED
    • Accreditation
    • Molecular diagnosis of Marfan syndrome and related diseases (ACTA2, FBN1, MYH11, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 genes)
    • Zentrum für Humangenetik Mannheim
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : Sanger sequencing, MLPA based techniques
    • More information
    • GERMANY
    • Baden-Württemberg
    • MANNHEIM
    • Accreditation
    • Molecular diagnosis of Marfan syndrome and related connective tissue disorders (FBN1 gene)
    • Labor Lademannbogen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, TGFBR1, TGFBR2 genes)
    • Bioscientia Institut für Medizinische Diagnostik GmbH
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • Accreditation
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, SMAD3, TGFBR1, TGFBR2 genes: sequencing / MLPA)
    • Universitätsmedizin Mainz
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : Sanger sequencing, MLPA based techniques
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • MAINZ
    • Accreditation
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, FBN2, TGFBR1, TGFBR2 genes: sequencing, MLPA)
    • Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : Sanger sequencing, MLPA based techniques
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • DORTMUND
    • Accreditation
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, TGFBR1, TGFBR2 genes)
    • GenteQ GmbH
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, TGFBR1, TGFBR2 genes: sequencing / MLPA)
    • Paxis und Labor Dr. med Karl Mehnert
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : Sanger sequencing, MLPA based techniques
    • More information
    • GERMANY
    • Bayern
    • NEU-ULM
    • Accreditation
    • Molecular diagnosis of Marfan syndromes and related diseases (entire coding region FBN1, ACTA2, SMAD3,TGFB1,TGFB2 genes / MLPA; gene panel FBN1, ACTA2, SMAD3, TGFBR1, TGFBR2, TGFB2, TGFB3, MYH11, FBN2, MYLK, COL1A1, COL1A2, COL3A1, COL5A1, COL2A1, COL5A2, PLOD1, TNXB, SLC2A10, COL11A1, ELN; exome sequencing)
    • Universität Zürich
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES), MLPA based techniques
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • SCHLIEREN
    • Accreditation
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, TGFBR1, TGFBR2 genes)
    • Centogene AG
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of isolated ectopia lentis (ADAMTSL4, FBN1 genes)
    • Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
    • 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
    • MARTINSRIED
    • Accreditation
    • Molecular diagnosis of isolated ectopia lentis (ADAMTSL4 gene)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Accreditation
    • Molecular diagnosis of isolated ectopia lentis (ADAMTSL4, FBN1 genes)
    • Pränatalmedizin München
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of Marfan syndrome and related diseases (ACTA2, FBN1, TGFBR1, TGFBR2 genes)
    • Charité - Universitätsmedizin Berlin (CVK)
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Berlin
    • BERLIN
    • Accreditation
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, TGFBR1, TGFBR2 genes: sequencing, MLPA)
    • Ruhr-Universität Bochum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : Sanger sequencing, MLPA based techniques
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BAD OEYNHAUSEN
    • Accreditation
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, FBN2, TGFBR1, TGFBR2, SMAD3, TGFB2, COL3A1, SLC2A10, SKI genes) Next-generation sequencing
    • Biomedicum Helsinki 2U
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FINLAND
    • Finland
    • HELSINKI
    • Accreditation
    • Molecular diagnosis of Marfan syndrome and related diseases (ACTA2, FBN1, FBN2, MYH11, MYLK, SMAD3, TGFBR1, TGFBR2 genes
    • IFLb Laboratoriumsmedizin Berlin GmbH
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Berlin
    • BERLIN
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, TGFBR1, TGFBR2 genes)
    • Humangenetisches Institut am Universitätsklinikum Erlangen
    • 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
    • ERLANGEN
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, TGFBR1, TGFBR2 genes)
    • Praxis Dres. Gencik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • Molecular diagnosis of ectopia lentis isolated (FBN1 gene)
    • CHUS - Complejo Hospitalario Universitario de Santiago
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Galicia
    • SANTIAGO DE COMPOSTELA
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, TGFBR2 genes)
    • Praxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Bremen
    • BREMEN
    • Molecular diagnosis of Marfan syndrome and related connective tissue disorders (FBN1 gene: sequencing / MLPA)
    • bio.logis Zentrum für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : Sanger sequencing, MLPA based techniques
    • More information
    • GERMANY
    • Hessen
    • FRANKFURT AM MAIN
    • Molecular diagnosis of isolated ectopia lentis (FBN1 and ADAMTSL4 genes / complete sequencing)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, SMAD3, TGFBR1, TGFBR2 genes)
    • Klinikum Stuttgart - Standort Olgahospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Baden-Württemberg
    • STUTTGART
    • Molecular diagnosis of Marfan and Marfan-related disorder (ACTA2, TGFBR2, TGFBR1, FBN1 genes)
    • Health In Code
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Galicia
    • A CORUÑA
    • Molecular diagnosis of Marfan syndrome (FBN1 gene)
    • Azienda Ospedaliera Universitaria di Parma
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • EMILIA ROMAGNA
    • PARMA
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, TGFBR1, TGFBR2 genes)
    • Institut für Humangenetik des Universitätsklinikums Münster
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • MÜNSTER
    • Molecular diagnosis of isolated ectopia lentis (FBN1 gene)
    • Center for Cardiovascular Genetics and Gene Diagnostics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • SCHLIEREN
    • Preimplantation genetic diagnosis of Marfan and Marfan-related disorder (FBN1 gene)
    • CME Barcelona
    • Purpose(s) : Pre-implantation diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of ectopia lentis syndrome (FBN1 gene)
    • Sistemas Genómicos S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Postnatal molecular diagnosis of Marfan syndrome and related disorders (mutation scanning of the entire coding region of FBN1, TGFBR1, TGFBR2, MYH11, ACTA2, SMAD3 genes)
    • Istituto Auxologico Italiano
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
    • More information
    • ITALY
    • LOMBARDIA
    • CUSANO MILANINO
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, SMAD3, TGFB2, TGFBR1, TGFBR2 genes)
    • Institut für Humangenetik am Universitätsklinikum Köln
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • KÖLN
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, TGFBR1, TGFBR2 genes: sequencing / MLPA; SMAD3 gene: sequencing)
    • Gemeinschaftspraxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : Sanger sequencing, MLPA based techniques
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Molecular diagnosis of isolated ectopia lentis (ADAMTSL4 gene: full sequencing)
    • Haukeland University Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NORWAY
    • Vestlandet
    • BERGEN
    • Molecular diagnosis of isolated ectopia lentis (ADAMTSL4, FBN1 genes)
    • CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
    • Purpose(s) : Post-natal diagnosis, Pre-symptomatic 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) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, TGFB2, TGFBR1, TGFBR2 genes)
    • UKE - Universitätsklinikum Hamburg-Eppendorf
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Postnatal molecular diagnosis of isolated ectopia lentis (sequence analysis of the entire coding region of FBN1 gene)
    • Azienda Ospedaliera di Padova
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing
    • More information
    • ITALY
    • VENETO
    • PADOVA
    • Diagnosis of Marfan and Marfan-related disorder (Panel)
    • CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Diagnosis of Marfan and Marfan-related disorder (Panel)
    • CHU de Nîmes - Hôpital Caremeau
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • LANGUEDOC-ROUSSILLON
    • NÎMES
    • Immunodetection diagnosis of Marfan syndrome and type 1 other fibrillinopathies (protein test of the extracellular matrix pathologies)
    • CHU de Lyon HCL - GH Est
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Molecular diagnosis of Isolated Ectopia Lentis (Fibrillin 1 and ADAMTSL4 genes)
    • St George's University of London
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Molecular diagnosis of isolated ectopia lentis (FBN1 gene)
    • A.O.U. Policlinico "G. Martino"
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • SICILIA
    • MESSINA