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GERMANY

Nordrhein-Westfalen
AACHEN

Diagnosis of familial juvenile hyperuricemic nephropathy type 1 (UMOD gene)
Universitätsklinikum Aachen
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

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Accreditation
GERMANY

Sachsen
WEIßWASSER

Diagnosis of medullary cystic kidney disease (UMOD gene)
Praxis Dr. Mato Nagel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

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Accreditation
GERMANY

Nordrhein-Westfalen
KÖLN

Diagnosis of genetic cystic renal disease (NGS screening panel: (>30 genes)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

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Accreditation
GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Diagnosis of medullary cystic kidney disease (MUC1, UMOD gene)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

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Accreditation
GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Diagnosis of familial juvenile hyperuricemic nephropathy (UMOD, REN genes)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

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Accreditation
NETHERLANDS

Gelderland
NIJMEGEN

Molecular diagnosis of Medullary Cystic Kidney Disease (UMOD gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

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Accreditation
BELGIUM

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
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing

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Accreditation
GERMANY

Nordrhein-Westfalen
KÖLN

Diagnosis of familial juvenile hyperuricemic nephropathy (HNF1B, UMOD, REN genes)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

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Accreditation
BELGIUM

HAINAUT
GOSSELIES

Diagnosis of renal or urinary tract malformations and related disorders (gene panel)
Institut de Pathologie et de Génétique
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

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Accreditation
GERMANY

Nordrhein-Westfalen
AACHEN

Diagnosis of autosomal dominant tubulointerstitial kidney disease (UMOD, REN genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, mlpa based techniques

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Accreditation
NETHERLANDS

Gelderland
NIJMEGEN

Diagnosis of Familial Juvenile Hyperuricemic Nephropathy type 1 and 2 (UMOD and REN gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

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Accreditation
GERMANY

Hamburg
HAMBURG

Diagnosis of medullary cystic kidney disease (UMOD gene)
Labor Dr. Fenner & Kollegen MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

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Accreditation
GERMANY

Hamburg
HAMBURG

Diagnosis of familial juvenile hyperuricemic nephropathy (UMOD gene)
Labor Dr. Fenner & Kollegen MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

More information

Accreditation
GERMANY

Sachsen
WEIßWASSER

Diagnosis of familial juvenile hyperuricemic nephropathy (UMOD, REN genes)
Praxis Dr. Mato Nagel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

More information

Accreditation
GERMANY

Nordrhein-Westfalen
KÖLN

Diagnosis of familial juvenile hyperuricemic nephropathy (UMOD gene)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

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Accreditation
GERMANY

Bayern
MÜNCHEN

Diagnosis of rare genetic renal disease (NGS screening panel: 211 genes)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Deletion / Duplication analysis ngs sequencing (except wes)

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Accreditation
SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Diagnosis of autosomal dominant tubulointerstitial kidney disease (panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

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Accreditation
GERMANY

Bayern
MÜNCHEN

Diagnosis of medullary cystic kidney disease (UMOD gene)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

More information

Accreditation
GERMANY

Bayern
MÜNCHEN

Diagnosis of familial juvenile hyperuricemic nephropathy (UMOD, REN genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

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Accreditation
FRANCE

AUVERGNE-RHONE-ALPES
BRON

Diagnosis of cystic renal diseases (Panel : first intention)
CHU de Lyon HCL - GH Est
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, pcr based techniques, mlpa based techniques

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Accreditation
FRANCE

AUVERGNE-RHONE-ALPES
BRON

Diagnosis of cystic renal diseases (Panel : second intention)
CHU de Lyon HCL - GH Est
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, pcr based techniques, mlpa based techniques

More information

Accreditation
FRANCE

AUVERGNE-RHONE-ALPES
BRON

Diagnosis of renal or urinary tract malformation - CAKUT (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, pcr based techniques, mlpa based techniques

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Accreditation
AUSTRIA

TIROL
INNSBRUCK

Diagnosis of Autosomal dominant medullary cystic kidney disease type 2 (UMOD gene)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

More information

Accreditation
GERMANY

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
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

More information

Accreditation
BELGIUM

HAINAUT
GOSSELIES

Diagnosis of tubulopathies (gene panel)
Institut de Pathologie et de Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

More information

Accreditation
FRANCE

AUVERGNE-RHONE-ALPES
BRON

Diagnosis of autosomal dominant tubulointerstitial kidney disease (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, mlpa based techniques

More information

Accreditation
BELGIUM

VLAAMS BRABANT
LEUVEN

Diagnosis of rare genetic renal diseases (gene pane)
UZ Leuven - Campus Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

More information

Accreditation
FRANCE

AUVERGNE-RHONE-ALPES
BRON

Diagnosis of autosomal dominant cystic nephropathy (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

More information

Accreditation
FRANCE

AUVERGNE-RHONE-ALPES
LYON

Diagnosis of nephropathies (Whole exome)
Eurofins Biomnis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

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Accreditation
FRANCE

AUVERGNE-RHONE-ALPES
LYON

Diagnosis of genetic tubular nephropathy (Whole Exome)
Eurofins Biomnis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

More information

Accreditation
GERMANY

Bayern
MÜNCHEN

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

More information

Accreditation
GERMANY

Bayern
MÜNCHEN

Diagnosis of rare genetic renal disease (NGS panel: 615 genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

More information

Accreditation
SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Diagnosis of UMOD-related autosomal dominant tubulointerstitial kidney disease (UMOD gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

More information

Accreditation
ITALY

TOSCANA
FIRENZE

Biochemical diagnosis of nephropathy familial with hyperuricemia
Azienda Ospedaliera Universitaria Anna Meyer I.R.C.C.S.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Service(s) : Analyte / Enzyme assay

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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of medullary cystic kidney disease (UMOD gene)
CENTOGENE GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

More information

SPAIN

Andalucía
MÁLAGA

Diagnosis of autosomal dominant medullary cystic kidney disease with or without hyperuricemia (UMOD gene)
Health in Code. Málaga
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

More information

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of autosomal dominant medullary cystic kidney disease with or without hyperuricemia (UMOD gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of familial juvenile hyperuricemic nephropathy (UMOD, REN genes)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region sanger sequencing

More information

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of autosomal dominant medullary cystic kidney disease with or without hyperuricemia (UMOD gene)
Sistemas Genómicos S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

More information

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of familial juvenile hyperuricemic nephropathy (UMOD gene)
CENTOGENE GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

More information

GERMANY

Sachsen
DRESDEN

Diagnosis of medullary cystic kidney disease (UMOD gene)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

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GERMANY

Sachsen
DRESDEN

Diagnosis of familial juvenile hyperuricemic nephropathy type 1 (UMOD gene)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

More information

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of UMOD-related autosomal dominant tubulointerstitial kidney disease (UMOD gene)
Health in Code. Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region sanger sequencing

More information

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of UMOD-related autosomal dominant tubulointerstitial kidney disease (UMOD gene / exones 3, 4, 5 and 7)
Health in Code. Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons sanger sequencing

More information

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of UMOD-related autosomal dominant tubulointerstitial kidney disease (UMOD gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of familial juvenile hyperuricemic nephropathy type 1 (UMOD gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

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SPAIN

La Rioja
LOGROÑO

Diagnosis of autosomal dominant tubulointerstitial kidney disease (MUC1, REN, UMOD genes)
Hospital San Pedro
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

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AUSTRIA

WIEN
WIEN

Diagnosis of familial juvenile hyperuricemic nephropathy (UMOD gene)
Hanusch Krankenhaus
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

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GERMANY

Hessen
FRANKFURT AM MAIN

Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) (NGS panel, 59 genes)
Senckenberg Zentrum für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

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SPAIN

Cataluña
BARCELONA

Diagnosis of rare genetic renal disease (panel)
Fundació Puigvert
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis ngs sequencing (except wes)

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GERMANY

Bayern
ERLANGEN

Diagnosis of autosomal dominant tubulointerstitial kidney disease (UMOD, REN genes)
Humangenetisches Institut am Universitätsklinikum Erlangen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

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GERMANY

Baden-Württemberg
ULM

Diagnosis of rare renal diseases (NGS screening panel, 268 genes)
MVZ Humangenetik Ulm GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

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ITALY

VENETO
PADOVA

Diagnosis of congenital anomalies of kidney and urinary tract [panel of genes]
Research&Innovation S.r.l. (R&I Genetics)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis ngs sequencing (except wes)

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Laboratory officially designated for this diagnostic test
SPAIN

Madrid
MADRID

Diagnosis of autosomal dominant medullary cystic kidney disease with or without hyperuricemia (UMOD gene)
Hospital Universitario La Paz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

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ITALY

SICILIA
CATANIA

Molecular and biochemical diagnosis of familial nephropathy with hyperuricemia due to uromodulin deficiency (UMOD gene)
Università degli Studi di Catania
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Service(s) : Analyte / Enzyme assay

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ITALY

EMILIA ROMAGNA
BOLOGNA

Molecular diagnosis of autosomal dominant medullary cystic kidney disease (UMOD gene)
IRCCS Azienda Ospedaliero Universitaria di Bologna, Policlinico di Sant'Orsola
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of autosomal dominant medullary cystic kidney disease (UMOD gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

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CANADA

Alberta
CALGARY

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

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of familial juvenile hyperuricemic nephropathy (UMOD gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

More information