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Caption : Accreditation =Accreditation
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BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Molecular diagnosis of vitamin D resistant rickets (PHEX gene)
University Hospital of Antwerp - UZA- Centrum Medische Genetica - CMG
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

GERMANY

Sachsen
WEIßWASSER

Accreditation
Molecular diagnosis of Dent disease (CLCN5, OCRL genes)
Praxis Dr. Mato Nagel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Sachsen
WEIßWASSER

Accreditation
Molecular diagnosis of vitamin D resistant rickets (CLCN5, CYP27B1, DMP1, ENPP1, FGF23, PHEX, SLC34A3 and VDR genes)
Praxis Dr. Mato Nagel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Dent Disease (CLCN5 and OCRL gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

Accreditation
Molecular diagnosis of Dent syndrome (OCRL gene)
CHU de Grenoble site Nord - Institut de biologie et de pathologie
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

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Molecular diagnosis of vitamin D resistant rickets (VDR gene)
University Hospital of Antwerp - UZA- Centrum Medische Genetica - CMG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of Dent disease (CLCN5, OCRL genes: sequencing)
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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of Dent disease type 1 (CLCN5 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of Dent disease type 2 (OCRL gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of vitamin D resistant rickets (DMP1, FGF23, PHEX and SLC34A3 genes)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Dent disease (CLCN5, OCRL genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

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

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of hypophosphatemic rickets (DMP1, ENPP1, FGF23, PHEX, SLC34A3 genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of renal tubular disease (panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of mental retardation and dysmorphology (NGS screening panel, 353 genes)
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)

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of Dent disease (CLCN5, OCRL genes: sequencing)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Molecular diagnosis of vitamin D resistant rickets (DMP1, FGF23, PHEX and SLC34A3 genes)
Helmholtz Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Andalucía
ARMILLA

Molecular diagnosis of Dent disease (entire coding sequence of CLCN5 and OCRL gene)
Lorgen G.P.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Andalucía
MÁLAGA

Diagnosis of Dent disease (CLCN5, OCRL genes)
Genetaq
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
KÖLN

Molecular diagnosis of Dent disease (CLCN5 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

PORTUGAL

SUL
LISBOA

Molecular diagnosis of vitamin D resistant rickets (VDR gene): sequencing of the entire coding region.
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

ITALY

TOSCANA
PISA

Postnatal molecular diagnosis of hypophosphatemic rickets (PHEX, FGF23, DMP1, VDR, CYP27B1 genes)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Dent disease type 1 (CLCN5 gene: Sequencing of the entire codimg region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of Dent disease type 1 (CLCN5 gene)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

NORMANDIE
CAEN

Diagnosis of dyscalcemia, nephrocalcinosis, nephrolithiasis (Panel)
CHU de Caen - Hôpital Clémenceau
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

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of Dent disease type 1 (CLCN5 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Dent disease (OCRL gene)
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 hypophosphatemic rickets (FGF23, ENPP1, DMP1, CLCN5, and PHEX genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
KÖLN

Molecular 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

SPAIN

Madrid
MADRID

Diagnosis of metabolic diseases (panel)
Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, 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 recessive diseases (panel, qCarrier Plus)
qGenomics
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of Dent disease by exploration of the renal function
CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of vitamin D resistant rickets by exploration of the renal function
CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

VENETO
PADOVA

Molecular diagnosis of Dent syndrome (CLCN5 gene)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
PADOVA

Molecular diagnosis of vitamin D resistant rickets (gene CLCN5)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Schleswig-Holstein
LÜBECK

Biochemical diagnosis of Vitamin D resistant rickets
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

DENMARK

Fyn
ODENSE

Molecular diagnosis of vitamin D resistant rickets (sequencing of PHEX, FGF23, CYP27B1, DMP1, SLC34A3 and VDR genes)
Amplexa Genetics A/S
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

DENMARK

Fyn
ODENSE

Molecular diagnosis of Dent syndrome (CLCN5 gene sequencing)
Amplexa Genetics A/S
Purpose(s) : Antenatal diagnosis, Pre-implantation 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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Dent disease type 1 (CLCN5 gene)
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
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Array-CGH in case of unexplained developmental delay
Praenatal-Medizin und Genetik, Düsseldorf
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Dent disease type 2 (OCRL gene)
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
Technique(s) : Sanger sequencing