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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

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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
Technique(s) : Sanger sequencing

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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
Technique(s) : Sanger sequencing

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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
Technique(s) : Sanger sequencing

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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
Technique(s) : Sanger sequencing

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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
Technique(s) : Sanger sequencing

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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
Technique(s) : Sanger sequencing

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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
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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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
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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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
Technique(s) : Sanger sequencing

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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

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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

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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
Technique(s) : Sanger sequencing

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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
Technique(s) : Sanger sequencing

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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
Technique(s) : Sanger sequencing

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AUSTRIA

TIROL
INNSBRUCK

Accreditation 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

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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
Technique(s) : Sanger sequencing

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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
Technique(s) : Sanger sequencing

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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
Technique(s) : Sanger sequencing

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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
Technique(s) : Sanger sequencing

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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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Bayern
MARTINSRIED

Accreditation 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

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation 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

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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
Technique(s) : Sanger sequencing, MLPA based techniques

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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
Technique(s) : Sanger sequencing

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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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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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

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UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

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

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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
Technique(s) : Sanger sequencing

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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
Technique(s) : NGS sequencing (except WES)

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ITALY

LAZIO
ROMA

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

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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
Technique(s) : Sanger sequencing

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GERMANY

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

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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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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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
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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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

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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

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SPAIN

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

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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

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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

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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

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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

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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

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SPAIN

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

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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

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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

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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
Technique(s) : NGS sequencing (except WES)

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FRANCE

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)

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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
Technique(s) : Sanger sequencing

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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
Technique(s) : Sanger sequencing

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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
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

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FRANCE

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

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AUSTRIA

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

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AUSTRIA

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

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AUSTRIA

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

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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

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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
Technique(s) : Sanger sequencing

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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

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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
Technique(s) : Sanger sequencing

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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

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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
Technique(s) : Sanger sequencing

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FINLAND

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

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SPAIN

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

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ITALY

LOMBARDIA
RANICA

Molecular diagnosis of idiopathic nephrotic syndrome [panel of genes]
Istituto di Ricerche Farmacologiche Mario Negri
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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