x

Search for a diagnostic test

* (*) mandatory field

59 Result(s)

Filter by

Speciality(ies)/objective(s)

Technique(s)

Purpose(s)

Quality management

Country(ies)

Reset
Sort by

Caption : Accreditation =Accreditation ;

UNITED KINGDOM

Greater London
LONDON

Accreditation 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

More information
GERMANY

Sachsen
WEIßWASSER

Accreditation 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
Technical procedure(s) : Sanger sequencing

More information
GERMANY

Sachsen
WEIßWASSER

Accreditation 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
Technical procedure(s) : Sanger sequencing

More information
GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation 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
Technical procedure(s) : Sanger sequencing

More information
GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation 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
Technical procedure(s) : Sanger sequencing

More information
GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Accreditation 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
Technical procedure(s) : Sanger sequencing

More information
UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation 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

More information
GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation 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
Technical procedure(s) : Sanger sequencing

More information
UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

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

More information
NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Molecular diagnosis of Idiopathic Steroid-Resistant Nephrotic Syndrome (NPHS2 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

More information
NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Molecular diagnosis of Nephrotic Syndrome type 3 (PLCE1 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

More information
NETHERLANDS

Gelderland
NIJMEGEN

Accreditation 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
Technical procedure(s) : Sanger sequencing

More information
BELGIUM

HAINAUT
GOSSELIES

Accreditation 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

More information
BELGIUM

HAINAUT
GOSSELIES

Accreditation 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

More information
GERMANY

Baden-Württemberg
HEIDELBERG

Accreditation 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
Technical procedure(s) : Sanger sequencing

More information
GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation 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
Technical procedure(s) : Sanger sequencing

More information
GERMANY

Baden-Württemberg
MANNHEIM

Accreditation 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
Technical procedure(s) : Sanger sequencing

More information
AUSTRIA

TIROL
INNSBRUCK

Accreditation Molecular diagnosis of idiopathic steroid-resistant nephrotic syndrome (NPHS2 gene)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

More information
CANADA

Ontario
TORONTO

Accreditation 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
Technical procedure(s) : Sanger sequencing

More information
NETHERLANDS

Utrecht
UTRECHT

Accreditation 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
Technical procedure(s) : Sanger sequencing

More information
NETHERLANDS

Utrecht
UTRECHT

Accreditation 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
Technical procedure(s) : Sanger sequencing

More information
GERMANY

Baden-Württemberg
FREIBURG

Accreditation 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
Technical procedure(s) : Sanger sequencing

More information
GERMANY

Bayern
MÜNCHEN

Accreditation 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
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

More information
GERMANY

Bayern
MARTINSRIED

Accreditation Molecular diagnosis of nephrotic syndrome (ACTN4, APOL1, ARHGDIA, CD2AP, COQ6, INF2, LAMB2, MYO1E, NPS1, NPHS2, PLCE1, PTPRO, TRPC6, WT1 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

More information
SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Molecular diagnosis of familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis (ACTN4, TRPC6, CD2AP, INF2, MYO1E genes)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

More information
SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Molecular diagnosis of nephrotic syndrome (NPHS1, NPHS2, PLCE1, WT1 genes / sequence analysis entire coding region; PLCE1 gene / deletions-duplications by MLPA)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques

More information
GERMANY

Bayern
MÜNCHEN

Accreditation 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
Technical procedure(s) : Sanger sequencing, MLPA based techniques

More information
GERMANY

Bayern
MÜNCHEN

Accreditation 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
Technical procedure(s) : Sanger sequencing

More information
FRANCE

ILE-DE-FRANCE
PARIS

Accreditation 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
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

More information
GERMANY

Berlin
BERLIN

Accreditation 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
Technical procedure(s) : Sanger sequencing

More information
FINLAND

Finland
HELSINKI

Accreditation 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
Technical procedure(s) : NGS sequencing (except WES)

More information
ITALY

LAZIO
ROMA

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

More information
GERMANY

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
Technical procedure(s) : Sanger sequencing

More information
GERMANY

Nordrhein-Westfalen
KÖLN

Molecular diagnosis of idiopathic nephrotic syndrome (ACTN4, ADCK4, ARHGDIA, CD2AP, COQ6, CRB2, DGKE, INF2, MYO1E, NPHS1, NPHS2, PAX2, PLCE1, PTPRO, TRPC6 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
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

More information
SPAIN

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
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

More information
ITALY

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

More information
SPAIN

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

More information
PORTUGAL

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

More information
FRANCE

RHONE-ALPES
BRON

Molecular diagnosis of nephroblastoma and familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis (WT1gene)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

More information
SPAIN

La Rioja
LOGROÑO

Molecular diagnosis of familial and sporadic idiopathic steroid-resistant nephrotic syndrome (NPHS1, NPHS2 genes)
CIBIR - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

More information
SPAIN

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

More information
PORTUGAL

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

More information
PORTUGAL

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

More information
PORTUGAL

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

More information
SPAIN

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

More information
SPAIN

Castilla - León
SALAMANCA

Molecular diagnosis of nephrotic syndrome (NPHS1 gene / sequencing)
Universidad de Salamanca. Facultad de Medicina
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

More information
PORTUGAL

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

More information
SPAIN

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

More information
SPAIN

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
Technical procedure(s) : NGS sequencing (except WES)

More information
FRANCE

NORD-PAS-DE-CALAIS
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
Technical procedure(s) : NGS sequencing (except WES)

More information
GERMANY

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
Technical procedure(s) : Sanger sequencing

More information
AUSTRIA

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
Technical procedure(s) : Sanger sequencing

More information
GERMANY

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
Technical procedure(s) : Sanger sequencing

More information
ISRAEL

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

More information
GERMANY

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
Technical procedure(s) : Sanger sequencing

More information
GREECE

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

More information
GERMANY

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
Technical procedure(s) : Sanger sequencing

More information
FINLAND

Finland
KUOPIO

Molecular diagnosis of nephrotic syndrome (NPHS2 gene)
University of Eastern Finland
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

More information
SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of idiopathic steroid-resistant nephrotic syndrome, familial and sporadic (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
Technical procedure(s) : Sanger sequencing, MLPA based techniques

More information