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FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of CDG syndrome
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of CDG syndrome
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Molecular diagnosis of Multiple exostoses/osteochondromas (EXT1, EXT2 genes)
Centrum Medische Genetica - UZA
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

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Search of duplications and/or deletions by array-CGH
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technique(s) : Array based techniques, FISH

NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation
Molecular diagnosis of Hereditary Multiple Exostoses (EXT1 and EXT2 gene)
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of multiple exostoses : search for microdeletion in EXT1 and EXT2 genes and in EXT3 locus
GH de l'Institut Catholique de Lille - Hopital Saint Vincent de Paul
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications

SPAIN

Cataluña
BARCELONA

Accreditation
Diagnosis of CDG syndrome
Hospital Clínic de Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Comunidad Valenciana
PATERNA

Accreditation
Diagnosis of multiple exostoses (EXT1 and EXT2 genes)
Sistemas Genómicos S.L.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Accreditation
Diagnosis of multiple exostoses (EXT1 and EXT2 genes)
Heinrich-Heine-Universität Düsseldorf
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Detection of microdeletions/microduplications
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Biochemical diagnosis of CDG Syndrome (Analyte: Sialotransferrins)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Multiple Exostoses (EXT1, 8q23-q24 and EXT2, 11p11-p12: full mutation screen)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Diagnosis of Metabolic 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)

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of multiple osteochondromas (EXT1 and EXT2 genes)
Centre de Biologie
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, PCR based techniques, MLPA based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of multiple exostoses (EXT1 and EXT2 genes)
Pränatalmedizin München
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

GERMANY

Hamburg
HAMBURG

Accreditation
Diagnosis of multiple exostoses (EXT1 and EXT2 genes)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

CANADA

Ontario
MISSISSAUGA

Accreditation
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

GERMANY

Bayern
MÜNCHEN

Accreditation
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)

GERMANY

Baden-Württemberg
ULM

Accreditation
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)

GERMANY

Bayern
WÜRZBURG

Accreditation
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)

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
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)

FRANCE

NORMANDIE
ROUEN

Accreditation
Diagnosis of rare genetic tumor (Phénotypage en oncogénétique) (Panel)
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)

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular cytogenetic diagnosis of Multiple Exostoses (by FISH of EXT1 and EXT2)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

GERMANY

Hamburg
HAMBURG

Accreditation
Diagnosis of CDG syndrome
UKE - Universitätsklinikum Hamburg-Eppendorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Biochemical diagnosis of Carbohydrate-deficient Glycoprotein disorders (Analyte: Transferrin isoelectric focussing)
Birmingham Children's Hospital NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of multiple exostoses (EXT1 and EXT2 genes: sequencing)
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

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Biochemical diagnosis of Congenital Disorders of Glycosylation (Analysis of Transferrin iso-electric focussing in plasma)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Diagnosis of Carbohydrate Deficient Sialotransferrin (sialotransferrine profile by capillary electrophoresis: serum)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Biochemical diagnosis of Congenital Disorders of Glycosylation (Analysis of Transferrin N-glycosylation and ApoCIII O-glycosylation by iso-electric focusing in plasma and CDG-II subtype identification by mass spectrometry of transferrin)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of unsolved Congenital Disorders of Glycosylation (Whole exome sequencing with glycosylation filter)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : NGS sequencing (except WES)

ITALY

LAZIO
ROMA

Molecular diagnosis multiple exostoses (EXT1 and EXT2 gene)
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of multiple osteochondromas (EXT1 and EXT2 genes)
Sistemas Genómicos S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

ITALY

LAZIO
ROMA

Molecular diagnosis of multiple exostoses (EXT1, EXT2 genes)
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of multiple exostoses (EXT1 and EXT2 genes)
IMEGEN - Delegación Valencia
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

SPAIN

Cataluña
BARCELONA

Diagnosis of multiple osteochondromas (EXT1 and EXT2 genes; SNP array)
Reprogenetics Spain S.A.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

GERMANY

Sachsen
DRESDEN

Diagnosis of multiple exostoses (EXT1 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

SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Diagnosis of multiple osteochondromas (EXT1, EXT2 genes)
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

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of multiple osteochondromas (EXT1 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

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of multiple osteochondromas (EXT1, EXT2 genes / entire coding sequence, MLPA)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : MLPA based techniques

GERMANY

Sachsen
DRESDEN

Diagnosis of multiple exostoses (EXT2 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

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of multiple osteochondromas (EXT1, EXT2 genes)
Bioarray
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

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of multiple osteochondromas (EXT1 and EXT2 genes)
DNA Data
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)

GERMANY

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)

SPAIN

Cataluña
BADALONA

Diagnosis of multiple osteochondromas (gene panel)
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
Purpose(s) : Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Multiple osteochondromas (EXT1 and EXT2 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of multiple osteochondromas (EXT1 and EXT2 genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

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)

SPAIN

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

SPAIN

Cataluña
TERRASSA

Diagnosis of multiple osteochondromas (EXT1 gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of metabolic diseases (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)

SPAIN

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)

ITALY

LOMBARDIA
PAVIA

Diagnosis of disproportionate/syndromic short stature and skeletal dysplasia [panel of genes]
Microgenomics S.r.l.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of intellectual disability (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)

SPAIN

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)

SPAIN

Madrid
CANTOBLANCO

Diagnosis of multiple osteochondromas (EXT1, EXT2 genes)
Universidad Autónoma de Madrid. Facultad de Ciencias
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES), Sanger sequencing

AUSTRIA

WIEN
WIEN

Diagnosis of multiple exostoses type 1 and 2 (EXT1 and EXT2 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

ITALY

EMILIA ROMAGNA
BOLOGNA

Molecular diagnosis of multiple exostoses (EXT1 e EXT2 genes)
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Biochemical diagnosis of CDG syndrome
Labor für molekulare Genetik und metabolische Erkrankungen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

PORTUGAL

NORTE
PORTO

Biochemical diagnosis of CDG syndromes (CDG Ia to Io; IIa, IIb to IIo)
CGMJM - Centro de Genética Médica Jacinto Magalhães
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Diagnosis of multiple exostoses (EXT1, EXT2 genes)
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

GERMANY

Bayern
BAD STEBEN

Diagnosis of multiple exostoses (EXT1 and EXT2 genes)
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

GREECE

ATTIKI
ATHENS

Biochemical diagnosis of CDG syndrome (transferrin isoelectric focusing)
Institute of Child Health
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Württemberg
HEIDELBERG

Diagnosis of CDG (Isoelectric focusing, enzyme activity, thin layer chromatography, HPLC / genes: ALG1-3, ALG6, ALG8, ALG9, ALG12, DPAGT1, DPM1, MPDU1, MPI, PMM2)
Dietmar-Hopp-Stoffwechselzentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Immunology
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Diagnosis of congenital disorders of glycosylation (or carbohydrate-deficient glycoprotein; CDG syndromes) (by transferrin isoelectric focusing)
Cliniques Universitaires UCL Saint-Luc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Diagnosis of congenital disorders of glycosylation (or carbohydrate-deficient glycoprotein; CDG syndromes) (analyte: total sialic acid)
Cliniques Universitaires UCL Saint-Luc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Diagnosis of congenital disorders of glycosylation (or carbohydrate-deficient glycoprotein; CDG syndromes) (analyte: unesterified sialic acid)
Cliniques Universitaires UCL Saint-Luc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Zuid-Holland
ROTTERDAM

Biochemical diagnosis of Congenital Disorder of Glycosylation, type Ia (Analyte: Phosphomannomutase)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Zuid-Holland
ROTTERDAM

Biochemical diagnosis of Congenital Disorder of Glycosylation, type Ib (Analyte: Phosphomannose Isomerase)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of CDG syndrome (CZE analysis)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

VENETO
PADOVA

Biochemical diagnosis of CDG syndrome
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

ILE-DE-FRANCE
PARIS

'Diagnosis of CDG syndromes (detection of major anomalies in the glycosylation of serum glycoproteins; PMM, PMI enzyme assays)'
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Castilla - León
SALAMANCA

Diagnosis of multiple exostoses (EXT1 and EXT2 genes)
Innovagenomics, S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ISRAEL

ISRAEL
JERUSALEM

Biochemical diagnosis of congenital disorders of glycosylation (serum, plasma, isoelectric focusing of transferrins)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of multiple exostoses (EXT1, EXT2 genes)
LabGenetics - 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
Technique(s) : Sanger sequencing, MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of CDG syndromes associated with an o-glycosylation anomaly, mucine-type core1 (apolipoprotein C3 glycosylation study)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Berlin
BERLIN

Diagnosis of cancer (NGS screening panel, 402 genes)
ATG GenMed GmbH
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Congenital Disorders of Glycosylation (transferrin isoelectric focusing)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluña
BARCELONA

Diagnosis of multiple osteochondromas (EXT1, EXT2 genes)
Universitat de Barcelona. Facultat de Biologia
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

CANADA

Ontario
TORONTO

Biochemical Diagnosis of Congenital Disorder of Glycosylation (carbohydrate deficient transferrin, serum)
The Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

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)