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GERMANY

Niedersachsen
GÖTTINGEN

Accreditation
Molecular diagnosis of Rendu-Osler-Weber disease (ACVRL1, ENG and SMAD4 genes)
Institut für Humangenetik der Universität Göttingen
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 Rendu-Osler-Weber Disease (ACVRL1, ENG and SMAD4 gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
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

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of hereditary hemorrhagic telangiectasia type 1 (ENG gene)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Niedersachsen
HANNOVER

Accreditation
Molecular diagnosis of Rendu-Osler-Weber disease (ACVRL1, ENG 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

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of Rendu-Osler-Weber disease (ACVRL1, ENG and SMAD4 genes: sequencing, MLPA)
Labor Lademannbogen
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

UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation
Molecular diagnosis of hereditary haemorrhagic telangiectasia (SMAD4 gene: mutation screening by sequencing and dosage analysis by MLPA)
The Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : MLPA based techniques

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Molecular diagnosis of Rendu-Osler-Weber disease (ACVRL1, ENG genes)
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

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of hereditary hemorrhagic telangiectasia type 2, 5 (ACVRL1, GDF2 genes)
Medizinisch Genetisches Zentrum München
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 Rendu-Osler-Weber disease (ACVRL1, ENG 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

SWITZERLAND

Suisse Alémanique
AARGAU

Accreditation
Molecular diagnosis of Rendu-Osler-Weber disease (ACVRL1, ENG gene sequencing and deletion analysis)
Kantonsspital Aargau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

AUSTRIA

STEIERMARK
GRAZ

Accreditation
Molecular diagnosis of Rendu-Osler-Weber disease (ENG gene)
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Accreditation
Molecular diagnosis of Rendu-Osler-Weber disease (ACVRL1, ENG, SMAD4 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

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Hereditary Hemorrhagic Telangiectasia (ENG, ACVRL1 sequencing and MLPA, SMAD 4 sequencing)
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) : Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation
Molecular diagnosis of Rendu-Osler-Weber disease (ACVRL1, ENG genes)
Labor PD Dr. Volkmann und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of Rendu-Osler-Weber disease (ACVRL1, ENG and SMAD4 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

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of hereditary hemorrhagic telangiectasia (ACVRL1, ENG, SMAD4 genes)
CeGaT GmbH
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

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of Rendu-Osler-Weber disease (ACVRL1, ENG and SMAD4 genes)
CeGaT GmbH
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

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of hereditary hemorrhagic telangiectasia (ACVRL1, ENG, SMAD4 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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of hereditary hemorrhagic telangiectasia (ENG, ACVRL1, SMAD4 genes)
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) : NGS sequencing (except WES), MLPA based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Rendu-Osler-Weber disease (ACVRL1, ENG and SMAD4 genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, 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
BAD OEYNHAUSEN

Accreditation
Molecular diagnosis of Rendu-Osler-Weber disease (ACVRL1, ENG genes)
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

CANADA

Ontario
BOWMANVILLE

Accreditation
Molecular Diagnosis of Hereditary Hemorrhagic Telangiectasia (DNA sequencing, qmPCR of ENG, ACVRL1, SMAD4)
Impact Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, PCR based techniques

FRANCE

POITOU-CHARENTES
POITIERS

Molecular diagnosis of Rendu-Osler-Weber disease (ENG, SMAD4, ACVRL1 genes)
CHU de Poitiers
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, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

FRANCE

RHONE-ALPES
LYON

Molecular diagnosis of Rendu-Osler-Weber disease (ENG, ACVRL1 genes)
CHU de Lyon HCL - GH Edouard Herriot
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, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

DENMARK

Fyn
ODENSE

Molecular diagnosis of hereditary hemorrhagic telangiectasia (ACVRL1, ENG, SMAD4 genes)
Odense University hospital
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, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

NORWAY

Østlandet
OSLO

Molecular diagnosis of Rendu-Osler-Weber disease (ACVRL1 gene)
Oslo University Hospital, Ullevaal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of hereditary hemorragic telangiectasia (ENG, ACVRL1 genes)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of hereditary hemorrhagic telangiectasia (ACVRL1, ENG 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) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

SPAIN

Andalucía
ARMILLA

Molecular diagnosis of Rendu-Osler-Weber disease (entire coding sequence of ENG gene)
Lorgen G.P.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Asturias
OVIEDO

Molecular diagnosis of Rendu-Osler-Weber disease (sequence of ACVRL1 gene)
Hospital Universitario Central de Asturias
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of Rendu-Osler-Weber disease (ACVRL1 and ENG genes)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
MADRID

Molecular diagnosis of Rendu-Osler-Weber disease (ENG, ACVRL1 genes)
Fundación Jiménez Díaz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

País Vasco
DERIO

Molecular diagnosis of Rendu-Osler-Weber disease (aCGH)
Genetadi Biotech S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Galicia
A CORUÑA

Molecular diagnosis of Rendu-Osler-Weber disease (ENG, ACVRL1 genes)
Health In Code
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of Rendu-Osler-Weber disease (ACVRL1, ENG and SMAD4 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

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of Rendu-Osler-Weber disease (ACVRL1 gene: sequencing / ENG and SMAD4 genes: sequencing, MLPA)
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

ITALY

VENETO
COSTOZZA DI LONGARE

Molecular diagnosis of Rendu-Osler-Weber disease (ENG, ACVRL1 genes)
B.I.R.D. Foundation
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Rendu-Osler-Weber disease (ENG and ACVRL1 gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
TERRASSA

Molecular diagnosis of Rendu-Osler-Weber disease (ENG gene: entire coding sequence)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Rendu-Osler-Weber disease (ACVRL1, ENG and SMAD4 genes: sequencing of the entire coding region and deletion/duplication analysis by MLPA)
CGC Genetics / Centro de Genética Clínica
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

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of Rendu-Osler-Weber disease (ENG, ACVRL1 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

SPAIN

Castilla - León
SALAMANCA

Molecular diagnosis of hereditary hemorrhagic telangiectasia (ENG, SMAD4 genes / sequencing)
Universidad de Salamanca. Facultad de Medicina
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of hereditary hemorrhagic telangiectasia type 5 (GDF2 gene)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of vascular anomalies (Panel)
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
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)

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of hereditary hemorrhagic telangiectasia (ACVRL1, ENG genes)
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

ALSACE
STRASBOURG

Diagnosis of digestive tract tumor (Panel)
CHU de Strasbourg - Hôpital de Hautepierre
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

POITOU-CHARENTES
POITIERS

Diagnosis of hereditary hemorrhagic telangiectasia (Panel)
CHU de Poitiers
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 hereditary hemorrhagic telangiectasia (ENG, ACVRL1, SMAD4 genes)
University of Debrecen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of hereditary hemorrhagic telangiectasia (ACVRL1, ENG, SMAD4 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

PUGLIA
BARI

Molecular diagnosis of Rendu-Osler-Weber disease (ALK1, ENG, SMAD4 genes)
Azienda Ospedaliero-Universitaria Consorziale Policlinico di Bari
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
PAVIA

Molecular diagnosis of Rendu-Osler-Weber disease (ENG and ACVRL1 genes)
Università degli Studi di Pavia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cantabria
SANTANDER

Molecular diagnosis of Rendu-Osler syndrome. ENG, ACVRL1/ALK1 genes
HUMV - Hospital Universitario Marqués de Valdecilla
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Lothian
EDINBURGH

Molecular diagnosis of Rendu-Osler-Weber disease (ENG and ACVRL1 genes)
Western General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HAIFA

Molecular diagnosis of Rendu-Osler-Weber (ENG, Mutation analysis)
The Bnai Zion Medical Center, Technion-Rappaport Faculty of Medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

CALABRIA
MANGONE

Molecular diagnosis of Rendu-Osler-Weber disease (ENG gene)
CNR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
MAJADAHONDA

Molecular diagnosis of Rendu-Osler-Weber disease (ENG, ACVRL1 and SMAD4 genes)
Genyca Innova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
MADRID

Molecular diagnosis of Rendu-Osler-Weber disease (ACVRL1 and ENG genes)
Centro de Investigaciones Biológicas (CSIC)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Rendu-Osler-Weber disease (ENG, ACVRL1 and SMAD4 genes)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, 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, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
PATERNA

Preimplantation genetic diagnosis of Rendu-Osler-Weber disease (ACVRL1 gene)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics