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GERMANY

Niedersachsen
HANNOVER

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

GERMANY

Nordrhein-Westfalen
KÖLN

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

BELGIUM

OOST-VLAANDEREN
GENT

Accreditation
Molecular diagnosis of Marfan syndrome (FBN1 gene)
Center for Medical Genetics Ghent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Sachsen
DRESDEN

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

UNITED KINGDOM

Wiltshire
SALISBURY

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

GERMANY

Bayern
MÜNCHEN

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

SWITZERLAND

Suisse Alémanique
BERN

Accreditation
Molecular diagnosis of Marfan syndrome (FBN1 gene)
Inselspital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Marfan Syndrome (FBN1 and TGFBR2 gene)
VUmc - VU medisch centrum
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
FREIBURG

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

GERMANY

Bayern
MARTINSRIED

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

GERMANY

Baden-Württemberg
MANNHEIM

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

GERMANY

Sachsen
LEIPZIG

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
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

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

GERMANY

Rheinland-Pfalz
MAINZ

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

GERMANY

Nordrhein-Westfalen
DORTMUND

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

GERMANY

Hamburg
HAMBURG

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

GERMANY

Bayern
NEU-ULM

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

SWITZERLAND

Suisse Alémanique
SCHLIEREN

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

NETHERLANDS

Gelderland
NIJMEGEN

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

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Molecular diagnosis of thoracic aortic aneurysm and dissection: next generation sequencing gene panel
University Hospital of Antwerp - UZA- Centrum Medische Genetica - CMG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

PORTUGAL

NORTE
PORTO

Accreditation
Molecular diagnosis of Marfan syndrome (FBN1 gene: sequencing of the entire coding region and deletion/duplication analysis by MLPA)
Instituto de Biologia Molecular e Celular
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

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

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

NETHERLANDS

Utrecht
UTRECHT

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
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Molecular diagnosis of Marfan Syndrome, Type I (FBN1 gene)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Berlin
BERLIN

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

ITALY

LAZIO
ROMA

Accreditation
Molecular diagnosis of Marfan syndrome (FBN1 gene)
Azienda Ospedaliera Universitaria Policlinico di Tor Vergata
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of vascular diseases (Panel)
CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
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)

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Aortic or Arterial Dilatation/Dissection (gene panel)
VUmc - VU medisch centrum
Purpose(s) : 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

SPAIN

Comunidad Valenciana
PATERNA

Accreditation
Preimplantation genetic diagnosis of Marfan syndrome (FBN1 gene)
Sistemas Genómicos S.L.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Marfan syndrome (FBN1, ACTA2, MYH11, TGFBR1, TGFBR2 genes)
St George's University of London
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Tayside
DUNDEE

Accreditation
Molecular diagnosis of Marfan-related syndromes (FBN1, TGFBR1 and TGFBR2 genes: sequence analysis and deletion testing by MLPA)
Ninewells Hospital and Medical School
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques

GERMANY

Nordrhein-Westfalen
BAD OEYNHAUSEN

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

FINLAND

Finland
HELSINKI

Accreditation
Molecular diagnosis of Marfan syndrome and related diseases (FBN1, FBN2, TGFBR1, TGFBR2, SMAD3, TGFB2, COL3A1, SLC2A10, SKI genes) Next-generation sequencing
Blueprint Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : NGS sequencing (except WES)

GERMANY

Berlin
BERLIN

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

GERMANY

Bayern
ERLANGEN

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

GERMANY

Niedersachsen
OSNABRÜCK

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

DENMARK

Hovedstaden
COPENHAGEN

Molecular diagnosis of Marfan syndrome (FBN1 gene)
Rigshospitalet
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of Marfan syndrome (FBN1 y TGFBR2 genes)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NORWAY

Østlandet
OSLO

Molecular diagnosis of Marfan syndrome (FBN1 and TGFBR2 genes)
Oslo University Hospital, Ullevaal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
BARCELONA

Preimplantation genetic diagnosis of the Marfan syndrome. FBN1 gene
Reprogenetics Spain S.A.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of Marfan syndrome (FBN1 gene: sequencing and MLPA)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : MLPA based techniques

GERMANY

Baden-Württemberg
STUTTGART

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, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of Marfan syndrome (FBN1 and TGFBR2 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)

GERMANY

Bremen
BREMEN

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

SPAIN

Andalucía
ARMILLA

Molecular diagnosis of Marfan syndrome (entire coding sequence of FBN1 and TGFBR2 genes)
Lorgen G.P.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Andalucía
ARMILLA

Molecular diagnosis of Marfan syndrome (entire coding sequence of FBN1 gene)
Lorgen G.P.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

POLAND

Warszawa
WARSAW

Molecular diagnosis of Marfan syndrome (mutations in exons 24 to 32 of FBN1 gene)
NZOZ GENOMED
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
SEVILLA

Molecular diagnosis of Marfan syndrome (mutations in FBN1 gene)
Hospital Universitario Virgen del Rocío
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

SUL
LISBOA

Molecular diagnosis of Marfan syndrome (FBN1 gene): sequencing of the entire coding region.
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

GERMANY

Baden-Württemberg
STUTTGART

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

SPAIN

Madrid
MADRID

Molecular diagnosis of Marfan syndrome (TGFBR2, FBN1 genes)
Fundación Jiménez Díaz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

País Vasco
DERIO

Molecular diagnosis of Marfan syndrome (aCGH)
Genetadi Biotech S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

LANGUEDOC-ROUSSILLON
NÎMES

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

SPAIN

Galicia
A CORUÑA

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

GERMANY

Nordrhein-Westfalen
MÜNSTER

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

SWITZERLAND

Suisse Alémanique
SCHLIEREN

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

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Marfan syndrome (FBN1 and TGFBR2 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Loeys-Dietz syndrome (TGFBR1 and TGFBR2 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
CUSANO MILANINO

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) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

GERMANY

Nordrhein-Westfalen
KÖLN

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

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of Marfan syndrome (FBN1, TGFBR2 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

GERMANY

Sachsen
DRESDEN

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

FRANCE

ILE-DE-FRANCE
PARIS

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

GERMANY

Hamburg
HAMBURG

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

ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of Marfan syndrome (sequence analysis of the entire coding region of FBN1 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

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of Marfan syndrome (genes panel: FBN1, TGFBR2)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

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)

FRANCE

LANGUEDOC-ROUSSILLON
NÎMES

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)

HUNGARY

Észak-Magyarország
DEBRECEN

Molecular diagnosis of Marfan syndrome (FBN1 gene)
University of Debrecen
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), Sanger sequencing, MLPA based techniques

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of Marfan Syndrome (FBN1 and TGFBR2 genes)
DNA Data
Purpose(s) : 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

GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of Marfan syndrome and related diseases (FBN1, TGFBR1, TGFBR2 genes)
Klinikum Stuttgart - Standort Olgahospital
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

ITALY

LOMBARDIA
PAVIA

Molecular diagnosis of Marfan syndrome (FBN1 gene)
Fondazione IRCCS Policlinico San Matteo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of Marfan and MASS syndromes (Fibrillin 1 gene)
St George's University of London
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWEDEN

Stockholms läns landsting
STOCKHOLM

Molecular diagnosis of Marfan syndrome (FBN1 gene)
Karolinska University Hospital - Clinical Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
JERUSALEM

Molecular diagnosis of Marfan (Fibrilin 1, Linkage analysis, PGD)
Shaare Zedek Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ROMANIA

BUCURESTI
BUCURESTI

Postnatal molecular diagnosis of Marfan syndrome (FBN1 and TGFBR2 genes:deletion/duplication analysis by MLPA)
National institute of legal medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Molecular diagnosis of Marfan syndrome (sequencing of FBN1 and TGFBR2 genes)
INCLIVA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

SICILIA
MESSINA

Molecular diagnosis of Marfan syndrome (FBN1 gene)
A.O.U. Policlinico "G. Martino"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Marfan syndrome (FBN1, TGFBR1, and TGFBR2 genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FINLAND

Finland
KUOPIO

Molecular diagnosis of Marfan syndrome (FBN1)
University of Eastern Finland
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

RHONE-ALPES
BRON

Diagnosis of congenital heart malformations (Panel)
CHU de Lyon HCL - GH Est
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)