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71 Result(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
    • 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
    • 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
    • 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
    • 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
    • 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
    • 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 diseases (FBN1, TGFBR1, TGFBR2 genes)
    • MVZ Labor Dr. Reising-Ackermann und Kollegen
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Sachsen
    • LEIPZIG
    • Accreditation
    • Molecular diagnosis of Loeys-Dietz syndrome (TGFBR2 gene)
    • Heinrich-Heine-Universität Düsseldorf
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • DÜSSELDORF
    • Accreditation
    • Molecular diagnosis of Loeys-Dietz syndrome (TGFBR1 gene, TGFBR2 gene)
    • Center for Medical Genetics Ghent
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Accreditation
    • Molecular diagnosis of Loeys-Dietz Syndrome (TGFBR1 and TGFBR2 gene)
    • Erasmus MC, Faculteitsgebouw
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Accreditation
    • Molecular diagnosis of Loeys-Dietz Syndrome (FBN1, TGFBR1, TGFBR2, ACTA2 and MYH11 gene)
    • VUmc - VU medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, TGFBR1, TGFBR2 genes)
    • Bioscientia Institut für Medizinische Diagnostik GmbH
    • Purpose(s) : Post-natal diagnosis
    • 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
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • MAINZ
    • Accreditation
    • Molecular diagnosis of Loeys-Dietz syndrome (TGBR1 and TGBR2 genes)
    • Inselspital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • BERN
    • 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
    • Technical procedure(s) : Sanger sequencing
    • 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
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of Loeys-Dietz Syndrome (TGFBR1 and TGFBR2 genes)
    • Great Ormond Street Hospital for Children, York House
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • 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
    • Technical procedure(s) : Sanger sequencing
    • 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 Loeys-Dietz Syndrome (TGFBR1 and TGFBR2 gene)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of Loeys-Dietz syndrome (TGFBR1 and TGFBR2 genes): sequencing of the entire coding region
    • Instituto de Biologia Molecular e Celular
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Accreditation
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, TGFBR1, TGFBR2 genes)
    • Centogene AG
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • 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 Vascular Disorders (multigene panel; 17 genes)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Accreditation
    • Molecular diagnosis of Loeys-Dietz Syndrome (TGFBR1 & TGFBR2, TGBF2 or SMAD3 genes: Sequencing of the entire coding region of gene (s) / Testing for known mutations in family members)
    • St George's University of London
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Accreditation
    • Molecular Diagnosis of Loeys-Dietz Syndrome Types 1A, 1B, 2A, 2B, 3 and 4 (TGFBR1, TGFBR2 genes: Sequencing of the entire coding region of gene (s))
    • Salisbury District Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • UNITED KINGDOM
    • Wiltshire
    • SALISBURY
    • Accreditation
    • Molecular diagnosis of Loeys-Dietz syndrome (TGFBR1, TGFBR2 genes)
    • Labor Lademannbogen
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular Diagnosis of Connective Tissue Disorder - Ehlers Danlos NGS Panel (18 genes)
    • The Hospital for Sick Children and University of Toronto
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : NGS sequencing (except WES), MLPA based techniques, Array based techniques
    • More information
    • CANADA
    • Ontario
    • TORONTO
    • Accreditation
    • Molecular Diagnosis of Connective Tissue Disorder - Osteogenesis Imperfecta NGS Panel and Del/Dup Analysis (17 genes)
    • The Hospital for Sick Children and University of Toronto
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : NGS sequencing (except WES), MLPA based techniques, Array based techniques
    • More information
    • CANADA
    • Ontario
    • TORONTO
    • Accreditation
    • Molecular diagnosis of Marfan syndrome and related diseases (ACTA2, FBN1, TGFBR1, TGFBR2 genes)
    • Charité - Universitätsmedizin Berlin (CVK)
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Berlin
    • BERLIN
    • Accreditation
    • Molecular diagnosis of Loeys-Dietz syndrome (TGFBR1,TGFBR2 genes / deletions-duplications by MLPA, sequence analysis entire coding region)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : MLPA based techniques
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Accreditation
    • Molecular Diagnosis of Loeys Deitz Syndrome (TGFB2, TGFB3, TGFBR1, TGFBR2, SMAD3, SMAD4 sequencing; TGFBR1, TGFBR2 MLPA))
    • Children's Hospital of Eastern Ontario
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • CANADA
    • Ontario
    • OTTAWA
    • Accreditation
    • Antenatal molecular diagnosis of Loeys-Dietz syndrome (sequence analysis of the entire coding region, sequence analysis of selected exons and MLPA of TGFBR1 and TGFBR2 genes)
    • Azienda Ospedaliera Universitaria Policlinico di Tor Vergata
    • Purpose(s) : Antenatal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
    • Technical procedure(s) : MLPA based techniques
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Accreditation
    • Molecular diagnosis of familial forms of aortic aneurysm (ACTA2, TGFBR1, TGFBR2 genes)
    • Universitätsklinikum Münster
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • MÜNSTER
    • 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
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BAD OEYNHAUSEN
    • Accreditation
    • Molecular Diagnosis of Loeys-Dietz Syndrome Types 1A, 1B, 2A, 2B, 3 and 4 (TGFBR1, TGFBR2 genes: Sequencing of the entire coding region of gene (s))
    • St James's University Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • UNITED KINGDOM
    • West Yorkshire
    • LEEDS
    • 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
    • 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
    • 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
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • Molecular diagnosis of Aortic aneurysm syndrome, Loeys-Dietz type (TGFBR1, TGFBR2 genes)
    • Karolinska University Hospital - Clinical Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • Molecular diagnosis of aortic aneurysm syndrome, Loeys-Dietz type (TGFBR1 gene)
    • Oslo University Hospital, Ullevaal
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NORWAY
    • Østlandet
    • OSLO
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, TGFBR1, TGFBR2 genes: sequencing / MLPA)
    • Praxis für Humangenetik und Prävention
    • 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 Loeys-Dietz syndrome (TGFBR1 and TGFBR2 genes / complete sequencing, MLPA)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : MLPA based techniques
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of aortic aneurysm syndrome, Loeys-Dietz type (TGFBR1 and TGFBR2 genes)
    • NZOZ Centrum Genetyki Medycznej Genesis
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • POLAND
    • Poznan
    • POZNAN
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, TGFBR2 genes)
    • Praxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bremen
    • BREMEN
    • Molecular diagnosis of aortic aneurysm syndrome, Loeys-Dietz type (TGFBR1 and TGFBR2 genes)
    • Sistemas Genómicos S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • 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
    • More information
    • GERMANY
    • Baden-Württemberg
    • STUTTGART
    • Molecular diagnosis of Marfan and Marfan-related disorder (FBN1, TGFBR1 and TGFBR2 genes)
    • CHU de Nîmes - Hôpital Caremeau
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • LANGUEDOC-ROUSSILLON
    • NÎMES
    • 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 and related diseases (FBN1, TGFBR1, TGFBR2 genes)
    • Institut für Humangenetik des Universitätsklinikums Münster
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • MÜNSTER
    • Molecular diagnosis of Loeys-Dietz syndrome (TGFBR1 and TGFBR2 genes)
    • Center for Cardiovascular Genetics and Gene Diagnostics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • SCHLIEREN
    • Molecular diagnosis of Loeys-Dietz syndrome type 1 (TGFBR1, TGFBR2 genes)
    • Genetaq
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of Loeys-Dietz syndrome (TGFBR1 and TGFBR2 genes)
    • Praxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • 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 Loeys-Dietz syndrome type 1 (TGFBR1 and TGFBR2 genes)
    • Hospital Universitari General Vall d'Hebron
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • 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
    • 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
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Molecular diagnosis of Marfan syndrome type 2 (TGFBR1 and TGFBR2 gene: sequencing of entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of Marfan syndrome and of aortic aneurysms (FBN1, FBN2, TGFB2, TGFBR1, TGFBR2, ACTA2 and SMAD3 genes)
    • CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of Loeys-Dietz syndrome (TGFBR1 and TGFBR2 genes: sequencing of the entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of Marfan syndrome and related diseases (FBN1, TGFB2, TGFBR1, TGFBR2 genes)
    • UKE - Universitätsklinikum Hamburg-Eppendorf
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Postnatal molecular diagnosis of Loeys-Dietz syndrome (sequence analysis of the entire coding region of TGFBR1 and TGFBR2 genes)
    • 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
    • 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 aortic aneurism syndrome, Loeys-Dietz type (TGFBR1 and TGFBR2 genes)
    • Università degli Studi di Brescia
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LOMBARDIA
    • BRESCIA
    • Molecular diagnosis of Loeys-Dietz syndrome (TGFBR1, TGFBR2 genes)
    • Fondazione IRCCS Policlinico San Matteo
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LOMBARDIA
    • PAVIA
    • Molecular diagnosis of Loeys Dietz syndrome (TGFBR2 gene)
    • 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 Loeys-Dietz syndrome (TGFBR2 and TGFBR1 genes)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of Loeys-Dietz syndrome (sequencing of TGFBR1 gene)
    • INCLIVA
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • VALENCIA
    • Molecular diagnosis of Loeys-Dietz syndrome type 1 (sequencing of TGFBR1 and TGFBR2 genes)
    • Genyca Innova
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • MAJADAHONDA