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64 Result(s)
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: Accreditation
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Greater London
LONDON
Molecular diagnosis of Steroid-resistant nephrotic syndrome (NPHS2 gene)
Great Ormond Street Hospital for Children, York House
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Sachsen
WEIßWASSER
Molecular diagnosis of familial idiopathic nephrotic syndrome (ACTN4, CD2AP, INF2, MYO1E, NPHS1, NPHS2, PTPRO, TRPC6 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

Sachsen
WEIßWASSER
Molecular diagnosis of nephrotic syndrome with diffuse mesangial sclerosis (WT1, PLCE1 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

Mecklenburg-Vorpommern
ROSTOCK
Molecular diagnosis of steroid-resistant nephrotic syndrome (ACTN4, NPHS2 genes)
Centogene AG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Mecklenburg-Vorpommern
ROSTOCK
Molecular diagnosis of steroid-resistant nephrotic syndrome (NPHS2 gene)
Diagenom GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Nordrhein-Westfalen
DÜSSELDORF
Molecular diagnosis of steroid-resistant nephrotic syndrome (NPHS2 gene)
Heinrich-Heine-Universität Düsseldorf
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Mecklenburg-Vorpommern
ROSTOCK
Molecular diagnosis of focal segmental glomerulosclerosis type 5 (INF2 gene)
Centogene AG
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 Idiopathic Steroid-Resistant Nephrotic Syndrome (NPHS2 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

Gelderland
NIJMEGEN
Molecular diagnosis of Nephrotic Syndrome type 3 (PLCE1 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

Gelderland
NIJMEGEN
Molecular diagnosis of Nephrotic Syndrome with Focal Segmental Glomerulosclerosis type 1, 2, 3, 5 and 7 (ACTN4, TRPC6, CD2AP, INF2 and PAX2 gene)
Radboudumc - Radboud universitair medisch centrum
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)
: Sanger sequencing

HAINAUT
GOSSELIES
Molecular diagnosis of FSGS2: Focal Segmental Glomerulosclerosis 2 (TRPC6 gene)
Institut de Pathologie et de Génétique - Gosselies
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

HAINAUT
GOSSELIES
Molecular diagnosis of Nephrotic Syndrome Type 2 (familial, idiopathic) (NPHS2, TRPC6 genes)
Institut de Pathologie et de Génétique - Gosselies
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Baden-Württemberg
HEIDELBERG
Molecular diagnosis of steroid-resistant nephrotic syndrome (NPHS2 gene)
Institut für Humangenetik am Universitätsklinikum Heidelberg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Rheinland-Pfalz
INGELHEIM AM RHEIN
Molecular diagnosis of nephrotic syndrome (ACTN4, ADCK4 , APOL1, ARHGDIA, CD2AP, INF2, MYO1E, NPHS1, NPHS2, PLCE1 and TRPC6 genes)
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

Baden-Württemberg
MANNHEIM
Molecular diagnosis of nephrotic syndrome with with focal segmental hyalinosis (ACTN4, INF2, TRPC6 genes)
Zentrum für Humangenetik Mannheim
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

TIROL
INNSBRUCK
Molecular diagnosis of familial idiopathic steroid-resistant nephrotic syndrome (NPHS2 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

Ontario
TORONTO
Molecular Diagnosis of Focal Segmental Glomerulosclerosis (by DNA sequencing of ACTN4, TRPC6, NPHS1, NPHS2, CD2AP)
The Hospital for Sick Children and University of Toronto
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Utrecht
UTRECHT
Molecular diagnosis of Focal Segmental Glomerulosclerosis type 1, 2, 3 and 5 (ACTN4, TRPC6, CD2AP and INF2 gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Utrecht
UTRECHT
Molecular diagnosis of Nephrotic Syndrome type 2, 3 and 4 (NPHS2, PLCE1 and WT1 gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
FREIBURG
Molecular diagnosis of nephrotic syndrome (NPHS1, NPHS2 genes)
Praxis für Humangenetik Freiburg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Bayern
MÜNCHEN
Molecular diagnosis of focal segmental glomerulosclerosis type 5 (INF2 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

Bayern
MARTINSRIED
Molecular diagnosis of nephrotic syndrome (NGS screening panel, 39 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of nephrotic syndrome (NPHS1, NPHS2, PLCE1, WT1 genes)
Reference Laboratory Genetics
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

Bayern
MÜNCHEN
Molecular diagnosis of WT1 gene-associated diseases
Pränatalmedizin München
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

Bayern
MÜNCHEN
Molecular diagnosis of nephrotic syndrome (ACTN4, CD2AP, COL4A3, INF2, LAMB2, NPHS1, NPHS2, PLCE, TRPC6, WT1 genes)
Pränatalmedizin München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

ILE-DE-FRANCE
PARIS
Diagnosis of nephrotic syndromes (Panel)
CHU Paris - Hôpital Necker-Enfants Malades
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), Sanger sequencing

Greater Manchester
MANCHESTER
Molecular diagnosis of Steroid-Resistant Nephrotic Syndrome - SRNS (NPHS2 gene: bi-directional fluorescent sequencing of the whole coding sequence)
St Mary's Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Cambridgeshire
CAMBRIDGE
Molecular diagnosis of Focal Segmental Glomerulosclerosis (ACTN4)
Addenbrooke's Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Berlin
BERLIN
Molecular diagnosis of nephrotic syndrome (ACTN4, INF2, NPHS1, NPHS2, PLCE1, TRPC6, WT1 gene)
IFLb Laboratoriumsmedizin Berlin GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Finland
HELSINKI
Molecular diagnosis of nehprotic syndrome (ACTN4, CD2AP, INF2, LAMB2, NPHS1, NPHS2, PLCE1, TRPC6, WT1 genes) Next-generation sequencing
Blueprint Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Technique(s)
: NGS sequencing (except WES)

LAZIO
ROMA
Molecular diagnosis of idiopathic nephrotic syndrome, steroid-resistant (NPHS2 gene)
Laboratorio Genoma
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Nordrhein-Westfalen
MÜNSTER
Molecular diagnosis of nephrotic syndrome (ACTN4, NPHS1, NPHS2, TRPC6, WT1 genes)
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

Nordrhein-Westfalen
KÖLN
Molecular diagnosis of idiopathic nephrotic syndrome (NGS screening panel, 68 genes)
Institut für Humangenetik am Universitätsklinikum Köln
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

Cataluña
BARCELONA
Diagnosis of idiopathic nephrotic syndrome, steroid-resistant (WT1, NPHS2 genes)
Fundació Puigvert
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

TOSCANA
FIRENZE
Molecular diagnosis of familial nephrotic syndrome steroid-resistant (NPHS2 gene)
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Andalucía
ARMILLA
Molecular diagnosis of familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis (entire coding sequence of WT1, NPHS1 and NPHS2 genes)
Lorgen G.P.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region

SUL
LISBOA
Molecular diagnosis of congenital and steroid-resistant nephrotic syndrome (NPHS1 and NPHS2 genes)
Faculdade de Medicina da Universidade de Lisboa
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

La Rioja
LOGROÑO
Diagnosis of familial and sporadic idiopathic steroid-resistant nephrotic syndrome (NPHS1, NPHS2 genes)
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
Technique(s)
: Sanger sequencing

Comunidad Valenciana
PATERNA
Molecular diagnosis of familial idiopathic steroid-resistant nephrotic syndrome (NPHS2 gene)
Sistemas Genómicos S.L.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

NORTE
PORTO
Molecular diagnosis of focal segmental glomerulosclerosis type 1 and 5 (ACTN4 and INF2 genes: Sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region

NORTE
PORTO
Molecular diagnosis of Familial idiopathic steroid-resistant nephrotic syndrome (PLCE1, CD2AP, TRPC6, NPHS1 and NPHS2 genes: Sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region

NORTE
PORTO
Molecular diagnosis of congenital and steroid-resistant nephrotic syndrome (NPHS2 gene: Sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region

Comunidad Valenciana
SANT JOAN D'ALACANT
Molecular diagnosis of familial idiopathic steroid-resistant nephrotic syndrome (NPHS1, NPHS2, WT1 genes / entire coding sequence)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region

Castilla - León
SALAMANCA
Diagnosis of nephrotic syndrome (NPHS1 gene)
Universidad de Salamanca. Facultad de Medicina
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

NORTE
PORTO
Molecular diagnosis of Focal segmental Glomerulosclerosis 6 (MYO1E gene: sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region

Comunidad Valenciana
PATERNA
Molecular diagnosis of familial idiopathic steroid-resistant nephrotic syndrome (WT1, PLCE1, NPHS2, NPHS1, ACTN4 genes)
IMEGEN - Instituto de Medicina Genómica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Comunidad Valenciana
ELCHE
Diagnosis of familial idiopathic steroid-resistant nephrotic syndrome (ACTN4, NPHS1, NPHS2, PLCE1,WT1 genes)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

HAUTS-DE-FRANCE
LILLE
Diagnosis of nephrotic syndrome (Panel)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Baden-Württemberg
STUTTGART
Molecular diagnosis of idiopathic nephrotic syndrome (PAX2 gene)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

WIEN
WIEN
Molecular diagnosis of congenital nephrotic syndrome (NPHS1, NPHS2, and WT1 genes)
medgen.at GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

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
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

AUVERGNE-RHONE-ALPES
BRON
Diagnosis of nephrotic syndrome (Panel)
CHU de Lyon HCL - GH Est
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)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

WIEN
WIEN
Molecular diagnosis of nephrotic syndrome (COL4A3, NPHS1, and WT1 genes)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

WIEN
WIEN
Molecular diagnosis of focal segmental glomerulosclerosis (ACTN4, CD2AP, INF2, and TRPC6 genes)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

WIEN
WIEN
Molecular diagnosis of nephrotic syndrome (LAMB2, NPHS1, NPHS2, PLCE1, and WT1 genes)
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
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

Nordrhein-Westfalen
MÜNSTER
Molecular diagnosis of familial idiopathic nephrotic syndrome (NPHS2 gene)
KfH Kuratorium für Dialyse und Nierentransplantation e.V.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

ISRAEL
JERUSALEM
Molecular diagnosis of Nephrotic Syndrome, Steroid resistant (PODOCIN, Mutation analysis, Carrier screening)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Baden-Württemberg
HEIDELBERG
Molecular diagnosis of steroid-resistant nephrotic syndrome (NPHS2 gene)
Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

ATTIKI
ATHENS
Molecular diagnosis of nephrotic syndromes (NPHS1, NPHS2, WT1, PLCE and ACTN4 genes)
"Aghia Sophia" Children's Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Berlin
BERLIN
Molecular diagnosis of nephrotic syndrome (ACTN4, INF2, NPHS1, NPHS2, PLCE1, TRPC6, WT1 genes: sequencing)
ATG GenMed GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Finland
KUOPIO
Molecular diagnosis of nephrotic syndrome (NPHS2 gene)
University of Eastern Finland
Purpose(s)
: Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), MLPA based techniques

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of idiopathic steroid-resistant nephrotic syndrome, familial and sporadic forms (NPHS1, NPHS2, WT1, LAMB2, PLCE1, PTPRO genes)
Laboratorio de Genética Clínica, S.L.
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

LOMBARDIA
RANICA