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177 Result(s)
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AUVERGNE-RHONE-ALPES
BRON
Diagnostic de la maladie de Von Hippel-Lindau (gène VHL)
CHU de Lyon HCL - GH Est
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, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

Rheinland-Pfalz
INGELHEIM AM RHEIN
Diagnosis of von-Hippel-Lindau disease (VHL gene)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

OCCITANIE
MONTPELLIER
Diagnosis of Von Hippel-Lindau disease (VHL gene: targeted mutation analysis)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: Sanger sequencing

ILE-DE-FRANCE
VILLEJUIF
Diagnostic de la maladie de Von Hippel-Lindau (gène VHL)
CLCC Institut Gustave Roussy
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), PCR based techniques

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Diagnosis of Von Hippel-Lindau disease : search for mutation and large rearragement of VHL gene
CHU de Marseille - Hôpital de la Conception
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

VLAAMS BRABANT
LEUVEN
Diagnosis of von Hippel-Lindau disease (VHL gene)
UZ Leuven - Campus Gasthuisberg
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

OOST-VLAANDEREN
GENT
Diagnosis of Von Hippel-Lindau disease (VHL gene)
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), MLPA based techniques

West Yorkshire
LEEDS
Molecular diagnosis of Von Hippel-Lindau syndrome (sequence analysis and MLPA dosage analysis of all coding exons, VHL gene)
St James's University Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Technique(s)
: MLPA based techniques

Suisse Romande
GENÈVE
Diagnosis of Von Hippel Lindau disease (VHL gene)
Hôpitaux Universitaires de Genève HUG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

STEIERMARK
GRAZ
Diagnosis of Von Hippel-Lindau disease (VHL gene)
Medizinische Universität Graz
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

West Midlands
BIRMINGHAM
Molecular diagnosis of Von Hippel-Lindau disease (VHL gene)
Birmingham Women's NHS Foundation Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Sachsen
DRESDEN
Diagnosis of von-Hippel-Lindau disease (VHL gene)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Tayside
DUNDEE
Molecular diagnosis of Von Hippel-Lindau disease (VHL gene: sequencing and deletion testing by MLPA)
Ninewells Hospital and Medical School
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: MLPA based techniques

Bayern
REGENSBURG
Diagnosis of von-Hippel-Lindau disease (VHL gene)
Universitätsklinikum Regensburg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Suisse Romande
GENÈVE
Diagnosis of Paraganglioma and Pheochrocytoma (VHL, SDHB, SDHC, SDHD and RET genes)
Hôpitaux Universitaires de Genève HUG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

Zuid-Holland
ROTTERDAM
Molecular diagnosis of Von Hippel-Lindau Disease (VHL gene)
Erasmus MC, Faculteitsgebouw
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Utrecht
UTRECHT
Molecular diagnosis of Von Hippel-Lindau Disease (VHL 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
Technique(s)
: Sanger sequencing, MLPA based techniques

Baden-Württemberg
FREIBURG
Diagnosis of von-Hippel-Lindau disease (VHL gene)
SYNLAB MVZ Freiburg GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Oxfordshire
OXFORD
Molecular diagnosis of Von Hippel Lindau disease (VHL gene: mutation screening by sequencing and dosage analysis by MLPA)
Churchill Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: MLPA based techniques

Nordrhein-Westfalen
DORTMUND
Diagnosis of von-Hippel-Lindau disease (VHL gene)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
MANNHEIM
Diagnosis of von-Hippel-Lindau disease (VHL gene)
Zentrum für Humangenetik Mannheim
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Comunidad Valenciana
PATERNA
Diagnosis of Von Hippel-Lindau disease (VHL gene)
Sistemas Genómicos S.L.
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Hamburg
HAMBURG
Diagnosis of von-Hippel-Lindau disease (VHL gene)
Labor Lademannbogen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Bayern
MÜNCHEN
Diagnosis of von-Hippel-Lindau disease (VHL gene)
Medizinisch Genetisches Zentrum München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

TOSCANA
FIRENZE
Molecular diagnosis of Von Hippel-Lindau disease (VHL gene)
Azienda Ospedaliero Universitaria Careggi
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Region Västra Götaland
GÖTEBORG
Molecular diagnosis of von Hippel-Lindau disease (VHL gene: MLPA and complete sequencing of all exons and flanking sequences)
Sahlgrenska Universitetssjuhuset
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: MLPA based techniques

HAINAUT
GOSSELIES
Diagnosis of ciliopathies, renal cancers and related disorders (gene panel)
Institut de Pathologie et de Génétique
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Mecklenburg-Vorpommern
ROSTOCK
Diagnosis of von-Hippel-Lindau disease (VHL gene: sequencing)
Diagenom GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Noord-Holland
AMSTERDAM
Diagnosis of Pheochromocytoma (Analyte: Free Catecholamines, Metanephrines, MHPG and Phenolic Acids)
Amsterdam UMC, locatie AMC
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

Murcia
EL PALMAR
Diagnosis of Von Hippel-Lindau disease (VHL gene)
Centro de Bioquímica y Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of Von Hippel-Lindau disease (VHL gene)
Cliniques universitaires Saint-Luc - UCLouvain
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

Niedersachsen
HANNOVER
Diagnosis of von-Hippel-Lindau disease (VHL gene)
amedes genetics im MVZ wagnerstibbe
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Nordrhein-Westfalen
MÜNSTER
Diagnosis of von-Hippel-Lindau disease (VHL gene)
Institut für Humangenetik des Universitätsklinikums Münster
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Suisse Alémanique
BASEL
Molecular diagnosis of Von Hippel-Lindau disease (VHL gene)
Universitätsspital Basel
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

STEIERMARK
GRAZ
Diagnosis of renal cell carcinoma (FH, FLCN, MET, and VHL genes)
Medizinische Universität Graz
Purpose(s)
: Post-natal diagnosis, Somatic genetics
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Gelderland
NIJMEGEN
Molecular diagnosis of Von Hippel-Lindau Disease (VHL gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

TIROL
INNSBRUCK
Diagnosis of Von Hippel-Lindau disease (VHL gene)
Medizinische Universität Innsbruck
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Sachsen
LEIPZIG
Diagnosis of von-Hippel-Lindau disease (VHL gene)
Institut für Humangenetik am Universitätsklinikum Leipzig
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
KARLSRUHE
Diagnosis of von-Hippel-Lindau disease (VHL gene)
MVZ Labor PD Dr. Volkmann und Kollegen GbR
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
TÜBINGEN
Diagnosis of von-Hippel-Lindau disease (VHL gene)
CeGaT GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Sachsen
DRESDEN
Diagnosis of von-Hippel-Lindau disease (VHL gene)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

OCCITANIE
TOULOUSE
Diagnosis of von Hippel-Lindau disease (VHL gene)
Institut Fédératif de Biologie
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

Bayern
MÜNCHEN
Diagnosis of von-Hippel-Lindau disease (VHL gene)
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

Nordrhein-Westfalen
KÖLN
Diagnosis of von-Hippel-Lindau disease (VHL gene)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
TÜBINGEN
Diagnosis of von-Hippel-Lindau disease (VHL gene)
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
Diagnosis of susceptibility to tumors (melanoma, pancreas, kidney, breast-ovary, colon, skin cancer) (Panel)
CLCC Jean Perrin
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

PAYS DE LA LOIRE
ANGERS
Diagnosis of tumors (Panel)
CHU d'Angers
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

HAUTS-DE-FRANCE
LILLE
Diagnosis of endocrine diseases (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

OCCITANIE
TOULOUSE
Diagnosis of endocrine tumors (Panel)
Institut Fédératif de Biologie
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

Bayern
MÜNCHEN
Diagnosis of von-Hippel-Lindau disease (VHL gene)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Antenatal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Ontario
MISSISSAUGA
Molecular Cytogenetic Solid Tumor Analysis (Paraffin Embedded Tissue ALK, MYC, ERBB2)
Trillium Health Partners- Credit Valley Site
Purpose(s)
: Somatic genetics
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size
Technique(s)
: FISH

Niedersachsen
HANNOVER
Diagnosis of von-Hippel-Lindau disease (VHL gene)
Medizinische Hochschule Hannover
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

NORMANDIE
CAEN
Microsatellite instability detection
Centre François Baclesse
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Uniparental disomy study
Technique(s)
: Microsatellite analysis

Bayern
MÜNCHEN
Diagnosis of cancers predisposition by TruSight Cancer panel (NGS panel)
Medizinisch Genetisches Zentrum München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Baden-Württemberg
ULM
Diagnosis of cancers predisposition by TruSight Cancer panel (NGS panel)
Universitätsklinikum Ulm
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Sachsen
DRESDEN
Diagnosis of cancers predisposition by TruSight Cancer panel (NGS panel)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ILE-DE-FRANCE
PARIS
Diagnosis of kidney cancers (Panel)
AP-HP. Centre - Université de Paris - HEGP Hôpital Européen Georges Pompidou
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

Bayern
WÜRZBURG
Diagnosis of cancers predisposition by TruSight Cancer panel (NGS panel)
Universität Würzburg - Biozentrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of renal cancer and related disorders (gene panel)
Reference Laboratory Genetics
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, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Diagnosis of familial isolated digestive endocrine tumors (Panel)
CHU de Marseille - Hôpital de la Conception
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

Utrecht
UTRECHT
Molecular diagnosis of Kidney Tumours (gene panel; NEF14v16.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ILE-DE-FRANCE
VILLEJUIF
Diagnosis of inherited cancer predisposing syndrome (Panel)
CLCC Institut Gustave Roussy
Purpose(s)
: Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), MLPA based techniques

ILE-DE-FRANCE
VILLEJUIF
Diagnosis of renal cancer predisposing syndrome (Panel)
CLCC Institut Gustave Roussy
Purpose(s)
: Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), MLPA based techniques

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
Diagnosis of Von Hippel-Lindau disease (VHL gene)
CLCC Jean Perrin
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

Bayern
MARTINSRIED/PLANEGG
Diagnosis of von-Hippel-Lindau disease
MVZ Martinsried GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Gelderland
NIJMEGEN
Molecular diagnosis of Vision Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

Gelderland
NIJMEGEN
Molecular diagnosis of Hereditary Cancer (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

ILE-DE-FRANCE
VILLEJUIF
Diagnosis of predisposition to breast cancer (Panel : second intention)
CLCC Institut Gustave Roussy
Purpose(s)
: Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), MLPA based techniques

AUVERGNE-RHONE-ALPES
BRON
Diagnosis of inherited renal cancer-predisposing syndrome (Panel)
CHU de Lyon HCL - GH Est
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, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

Suisse Alémanique
ZÜRICH
Diagnosis of hereditary tumor diseases (Panel - 43 genes)
Genetica AG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

PAYS DE LA LOIRE
ANGERS
Diagnosis of renal cell carcinoma (Panel)
CHU d'Angers
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

PAYS DE LA LOIRE
ANGERS
Diagnosis of von Hippel-Lindau diseaseon Hippel-Lindau disease (Panel: large mutation and rearrangement of the VHL gene)
CHU d'Angers
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

NORMANDIE
ROUEN
Diagnosis of rare genetic tumor (Phenotyping in oncogenetics) (Whole exome)
CHU de Rouen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

Suisse Alémanique
ZÜRICH
Diagnosis of Phakomatoses (Panel - 7 genes)
Genetica AG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

Hamburg
HAMBURG
Diagnosis of von-Hippel-Lindau disease (VHL gene)
MVZ Fenner & Krasemann
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of hereditary renal cell cancer (gene panel)
Cliniques universitaires Saint-Luc - UCLouvain
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE
Diagnosis of inherited cancer-predisposing syndrome (Panel)
Laboratoire Cerba
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

ILE-DE-FRANCE
PARIS
Diagnosis of Von Hippel-Lindau disease (VHL gene)
AP-HP. Centre - Université de Paris - HEGP Hôpital Européen Georges Pompidou
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

ILE-DE-FRANCE
PARIS
Diagnosis of pheochromocytoma-paraganglioma (Panel)
AP-HP. Centre - Université de Paris - 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, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), MLPA based techniques

OOST-VLAANDEREN
GENT
Diagnosis of renal cell carcinoma and related disorders (gene panel)
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Purpose(s)
: Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), MLPA based techniques

VLAAMS BRABANT
LEUVEN
Diagnosis of kidney cancer (gene panel)
UZ Leuven - Campus Gasthuisberg
Purpose(s)
: Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Diagnosis of endocrine tumors (Panel)
AP-HP.Université Paris Saclay - Hôpital de Bicêtre
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Region Stockholm
SOLNA
Diagnosis of Von Hippel-Lindau disease (VHL gene)
Karolinska Universitetssjukhuset
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

VLAAMS BRABANT
LEUVEN
Diagnosis of genetic neuroendocrine tumors (gene panel)
UZ Leuven - Campus Gasthuisberg
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of onco-endocrine pathologies (gene panel)
Cliniques universitaires Saint-Luc - UCLouvain
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

AUVERGNE-RHONE-ALPES
LYON
Diagnosis of inherited cancer-predisposing syndrome (Whole exome)
Eurofins Biomnis
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

Bayern
MÜNCHEN
Diagnosis of Ciliopathy (NGS panel: 138 genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Wiltshire
SALISBURY
Molecular Cytogenetic diagnosis of Von Hippel-Lindau disease (by FISH of VHL at 3p23)
Salisbury District Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: FISH

Baden-Württemberg
SINGEN /HTWL.
Diagnosis of von-Hippel-Lindau disease (VHL gene: sequencing / MLPA)
MVZ Laborärzte Singen GbR
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Cambridgeshire
CAMBRIDGE
Molecular diagnosis of Von Hippel-Lindau disease (VHL: sequencing and dosage analysis)
Addenbrooke's Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Vestlandet
BERGEN
Molecular diagnosis of pheochromocytoma (SDHB, SDHD and VHL genes)
Haukeland University Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Vestlandet
BERGEN
Molecular diagnosis of Von Hippel-Lindau disease (VHL gene)
Haukeland University Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Cytogenetics
Objective(s)
: Sequence analysis: entire coding region, Detection of microdeletions/microduplications
Technique(s)
: NGS sequencing (except WES), MLPA based techniques

Ontario
TORONTO
Molecular Diagnosis of Hereditary Renal Cancer - Comprehensive NGS Panel (15 genes)
Toronto General Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Ontario
TORONTO
Molecular Diagnosis of Predisposition to Hereditary Renal Cell Carcinoma - Group A Genes NGS Panel (11 genes)
Toronto General Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Ontario
TORONTO
Molecular Diagnosis of Von Hippel-Lindau Syndrome (VHL NGS, MLPA)
Toronto General Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), MLPA based techniques

Region Stockholm
SOLNA
Diagnosis of hereditary cancer (Panel - GeneMate)
iCellate Medical AB
Purpose(s)
: Pre-symptomatic diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES)

Galicia
SANTIAGO DE COMPOSTELA
Diagnosis of Von Hippel-Lindau disease (VHL gene)
Complejo Hospitalario Universitario de Santiago
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

LOMBARDIA
MILANO
Molecular diagnosis of Von Hippel-Lindau disease (VHL gene)
IRCCS Ospedale San Raffaele
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Madrid
MADRID
Diagnosis of Von Hippel-Lindau disease (VHL gene)
Centro Nacional de Investigaciones Oncológicas (CNIO)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), MLPA based techniques

PIEMONTE
TORINO
Molecular diagnosis of von Hippel-Lindau disease (VHL gene)
A.O.U. Città della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Niedersachsen
OSNABRÜCK
Diagnosis of von-Hippel-Lindau disease (VHL gene)
Praxis Dres. Gencik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Bayern
BAD STEBEN
Diagnosis of von-Hippel-Lindau disease
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Cataluña
BARCELONA
Diagnosis of Von Hippel-Lindau disease (VHL gene)
Hospital Clínic de Barcelona
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Comunidad Valenciana
PATERNA
Diagnosis of the Von Hippel-Lindau disease (VHL gene)
Sistemas Genómicos S.L.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

LAZIO
ROMA
Molecular diagnosis of Von Hippel-Lindau disease (VHL gene)
Laboratorio Genoma
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Cataluña
BARCELONA
Diagnosis of Von Hippel-Lindau disease (VHL gene)
Fundació Puigvert
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Andalucía
MÁLAGA
Diagnosis of Von Hippel-Lindau disease (VHL gene)
Health in Code. Málaga
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

Baden-Württemberg
STUTTGART
Diagnosis of von-Hippel-Lindau disease (VHL gene)
Praxis für Humangenetik und Prävention
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Andalucía
SEVILLA
Diagnosis of Von Hippel-Lindau disease (VHL gene)
Hospital Universitario Virgen del Rocío
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of Von Hippel-Lindau disease (VHL gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
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
Technique(s)
: Sanger sequencing

Warszawa
WARSAW
Molecular diagnosis of Van Hippel-Lindau syndrome (Analysis of VHL mutations)
NZOZ GENOMED
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Cataluña
BARCELONA
Diagnosis of Von Hippel-Lindau disease (VHL gene; SNP array)
DiNA Science
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: Sanger sequencing, PCR based techniques

Nordrhein-Westfalen
KÖLN
Diagnosis of von-Hippel-Lindau disease (VHL gene)
Zotz|Klimas Standort Köln
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Sachsen
DRESDEN
Diagnosis of von-Hippel-Lindau disease (VHL gene: sequencing / MLPA)
Gemeinschaftspraxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Comunidad Valenciana
PATERNA
Diagnosis of Von Hippel-Lindau disease (VHL gene)
Igenomix Spain
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: PCR based techniques

Mecklenburg-Vorpommern
ROSTOCK
Diagnosis of von-Hippel-Lindau disease (VHL gene)
CENTOGENE GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

La Rioja
LOGROÑO
Diagnosis of Von Hippel-Lindau disease (VHL gene)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Warszawa
WARSAW
Molecular diagnosis of Von Hippel-Lindau syndrome (Analysis of VHL mutations and rearrangements)
MEDGEN
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Baden-Württemberg
STUTTGART
Diagnosis of von-Hippel-Lindau disease (VHL gene)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Comunidad Valenciana
SANT JOAN D'ALACANT
Diagnosis of Von Hippel-Lindau disease (VHL gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), MLPA based techniques

Nordrhein-Westfalen
KÖLN
Diagnosis of von-Hippel-Lindau disease (VHL gene)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Asturias
OVIEDO
Diagnosis of Von Hippel-Lindau disease (VHL gene)
IMOMA - Instituto de Medicina Oncológica y Molecular de Asturias
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Madrid
MADRID
Diagnosis of Von Hippel-Lindau disease (VHL gene)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Cataluña
BARCELONA
Diagnosis of von Hippel Lindau disease (VHL gene)
Hospital de la Santa Creu i Sant Pau
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Newborn screening
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Hamburg
HAMBURG
Diagnosis of von-Hippel-Lindau disease (VHL gene)
Gemeinschaftspraxis für Humangenetik GbR
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Közép-Magyarország
BUDAPEST
Mutation screening in von Hippel-Lindau syndrome
2nd Department of Internal Medicine, Semmelweis University
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

Közép-Magyarország
DEBRECEN
Molecular diagnosis of Von Hippel-Lindau disease (VHL gene)
University of Debrecen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Baden-Württemberg
FREIBURG
Diagnosis of von-Hippel-Lindau disease (VHL gene)
Institut für Humangenetik am Universitätsklinikum Freiburg
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Cataluña
BADALONA
Diagnosis of Von Hippel-Lindau disease (VHL gene)
Hospital Germans Trias I Pujol
Purpose(s)
: Pre-implantation diagnosis, Post-natal diagnosis, Somatic genetics
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

WIEN
WIEN
Molecular diagnosis of Von Hippel-Lindau syndrome (VHL gene)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Nordrhein-Westfalen
KÖLN
Diagnosis of hereditary kidney disease (NGS screening panel: 411 Gene)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Madrid
MADRID
Diagnosis of hereditary cancer (panel)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of inherited cancer risk (panel, qCancer Risk Extended)
qGenomics
Purpose(s)
: Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of inherited cancer risk (panel)
ICO Hospitalet - Hospital Duran i Reynals
Purpose(s)
: Post-natal diagnosis, Somatic genetics, 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, Methylation analysis, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

Comunidad Valenciana
ELCHE
Diagnosis of Von Hippel-Lindau disease (VHL gene)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Rheinland-Pfalz
MAINZ
Diagnosis of von-Hippel-Lindau disease (VHL gene)
Universitätsmedizin Mainz
Purpose(s)
: Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Cataluña
BARCELONA
Diagnosis of catecholamine-producing tumor (free metanephrins and 3-metoxitiramine in plasma using LC-MS/MS)
Hospital de la Santa Creu i Sant Pau
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

La Rioja
LOGROÑO
Diagnosis of pheochromocytoma-paraganglioma(panel)
Hospital San Pedro
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of bone dysplasia (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

La Rioja
LOGROÑO
Diagnosis of Von Hippel-Lindau disease (VHL gene)
Hospital San Pedro
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

La Rioja
LOGROÑO
Diagnosis of hereditary cancer (panel)
Hospital San Pedro
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of inherited cancer-predisposing syndrome (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

CAMPANIA
NAPOLI
Diagnosis of Von Hippel-Lindau disease (VHL gene)
CEINGE - Biotecnologie Avanzate Srl
Purpose(s)
: Antenatal diagnosis, 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
Technique(s)
: Sanger sequencing, MLPA based techniques

WIEN
WIEN
Diagnosis of Von Hippel-Lindau disease (VHL gene)
Hanusch Krankenhaus
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

WIEN
WIEN
Diagnosis of renal cell carcinoma (FLCN, FH, MET, and VHL gene)
Hanusch Krankenhaus
Purpose(s)
: Post-natal diagnosis, Somatic genetics
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Galicia
A CORUÑA
Diagnosis of renal cancer (panel - 17 genes)
Health In Code. A Coruña
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: NGS sequencing (except WES)

Hessen
FRANKFURT AM MAIN
Diagnosis of von-Hippel-Lindau disease (VHL gene)
Senckenberg Zentrum für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Comunidad Valenciana
VALENCIA
Diagnosis of Von Hippel-Lindau disease (VHL gene)
Hospital Universitario y Politécnico La Fe
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Galicia
A CORUÑA
Diagnosis of genetic cancer (panel - 128 genes)
Health In Code. A Coruña
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: NGS sequencing (except WES)

Asturias
OVIEDO
Diagnosis of inherited cancer (panel)
IMOMA - Instituto de Medicina Oncológica y Molecular de Asturias
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

Baleares
PALMA DE MALLORCA
Diagnosis of hereditary cancer (panel)
Hospital Universitari Son Espases
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Comunidad Valenciana
VALENCIA
Diagnosis of solid tumors (panel)
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES)

Cataluña
SABADELL
Diagnosis of renal cancer (panel)
Parc Taulí Hospital Universitari. Centre de Medicina Genòmica
Purpose(s)
: Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

Comunidad Valenciana
PATERNA
Diagnosis of familial cancer (panel)
Sistemas Genómicos S.L.
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis, Pharmacogenetics, Somatic genetics, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

TOSCANA
PISA
Diagnosis of Von Hippel-Lindau disease (VHL gene)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

LOMBARDIA
CREMONA
Diagnosis of Von Hippel-Lindau disease and Chuvash erythrocytosis (VHL gene)
ASST Cremona
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

OCCITANIE
MONTPELLIER
Diagnosis of Von Hippel-Lindau disease (VHL gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

LOMBARDIA
MILANO
Molecular diagnosis of Von Hippel Lindau disease (VHL gene)
ASST Grande Ospedale Metropolitano Niguarda
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

PUGLIA
SAN GIOVANNI ROTONDO
Diagnosis of Von Hippel-Lindau disease (VHL gene)
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), MLPA based techniques

Jylland
ALBORG
Immunological diagnosis of pheochromocytoma (RIA method)
Alborg Sygehus Nord
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Immunology

PUGLIA
SAN GIOVANNI ROTONDO
Biochemical diagnosis of pheochromocytoma
Fondazione IRCCS Ospedale Casa Sollievo della Sofferenza
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

Capital City Prague
PRAHA
Molecular diagnosis of Von-Hippel-Lindau disease (VHL gene)
University Hospital Motol
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

LOMBARDIA
BRESCIA
Diagnosis of Von Hippel-Lindau disease (VHL gene)
ASST Spedali Civili di Brescia
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
Technique(s)
: Sanger sequencing, MLPA based techniques

ISRAEL
RAMAT GAN
Molecular diagnosis of Von Hippel-Lindau (VHL, full Sequencing, PGD)
Sheba Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

VENETO
PADOVA
Molecular diagnosis of von Hippel-Lindau disease (VHL gene)
Istituto Oncologico Veneto IRCCS
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

DZUKIJA
VILNIUS
Molecular diagnosis of Von Hippel-Lindau disease (VHL gene)
Vilnius University Hospital Santariskiu Klinikos
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Nordrhein-Westfalen
BONN
Diagnosis of von-Hippel-Lindau disease (VHL gene)
MVZ Institut für Klinische Genetik und Tumorgenetik Bonn GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

NORTE
PORTO
Molecular diagnosis of von Hippel-Lindau disease (VHL gene)
Instituto Português de Oncologia do Porto Francisco Gentil, EPE
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

SUL
LISBOA
Molecular diagnosis of Von Hippel-Lindau disease (VHL gene)
Faculdade de Medicina da Universidade de Lisboa
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

EMILIA ROMAGNA
BOLOGNA
Molecular diagnosis of Von Hippel-Lindau disease (VHL gene)
IRCCS Policlinico Sant'Orsola
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

NORTE
PORTO
Diagnosis of Von Hippel-Lindau disease
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: MLPA based techniques

WIEN
WIEN
Molecular diagnosis of Von Hippel-Lindau disease (VHL gene)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Castilla - León
SALAMANCA
Diagnosis of Von Hippel-Lindau disease (VHL gene)
IBSAL - Instituto de Investigación Biomédica de Salamanca
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Alberta
CALGARY
Molecular Diagnosis of von Hippel-Lindau syndrome (VHL)
Alberta Children's Hospital
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

Alberta
CALGARY
Molecular Diagnosis Nephronophthisis 1 (NPHP1)
Alberta Children's Hospital
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: MLPA based techniques

Alberta
CALGARY
Molecular Diagnosis of Hereditary Renal Cancer - NGS Panel (16 genes)
Alberta Children's Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), PCR based techniques, MLPA based techniques, Array based techniques

NORTE
PORTO