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GERMANY

Sachsen
WEIßWASSER

Accreditation
Molecular diagnosis of atypical hemolytic uremic syndrome (C3, CD46, CFB, CFH, CFHR1, CFHR3, CFHR5, CFI, THBD 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

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation
Molecular diagnosis of Haemolytic Uremic syndrome (CD46, CFH & CFI genes by sequencing of the entire coding region and testing of known mutations)
Newcastle upon Tyne Hospitals NHS Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of atypical hemolytic uremic syndrome (CD46, CFH, CFI, THBD genes)
Labor Lademannbogen
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

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of atypical hemolytic uremic syndrome (C3, CD46, CFB, CFH, CFHR5, CFI, DGKE, THBD genes: sequencing)
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

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Atypical Hemolytic Uremic Syndrome, Membranoproliferative Glomerulonephritis (by DNA sequencing of APLN, CFB, CD46, CFH, CFHR5, CFI, C3, and THBD)
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

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation
Molecular diagnosis of susceptibility to Atypical hemolytic uremic syndrome Type 1 (CD46, CFH, CFI genes: Sequencing of the entire coding region of gene (s) / Targetted copy number analysis / Testing for known mutations in family members)
Newcastle upon Tyne Hospitals NHS Trust
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of atypical hemolytic-uremic syndrome with C3 anomaly (C3 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Diagnosis of complement mediated diseases (Panel)
Hôpitaux Universitaires de Genève HUG
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), MLPA based techniques, Whole Exome Sequencing (WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Search for predisposing factors to atypical form of hemolytic uremic syndrome : immunochemical (anti-factor H antibodies) and genetic studies (THBD, CFH, CFHR1, CFI, MCP, CFB and C3)
CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis, Protein expression
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, Immunohistochemistry

AUSTRIA

WIEN
WIEN

Accreditation
Molecular diagnosis of atypical hemolytic uremic syndrome (CFH gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

ILE-DE-FRANCE
PARIS

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

SPAIN

Madrid
MADRID

Diagnosis of atypical hemolytic uremic syndrome (CFI, CFB and C3 genes)
Hospital Universitario La Paz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Immunology
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : Sanger sequencing

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of atypical hemolytic uremic syndrome (CFH, CFI, CFB, C3, MCP, THBD genes)
Ospedale Maggiore Policlinico - Clinica Mangiagalli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of atypical hemolytic uremic syndrome (CFH, CD46, CFI, CFB, C3, THBD 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

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Atypical hemolytic uremic syndrome with C3 anomaly (C3 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

GERMANY

Nordrhein-Westfalen
KÖLN

Molecular diagnosis of atypical hemolytic uremic syndrome (C3, CD46, CFB, CFH, CFI, DGKE, THBD 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
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Diagnosis of constitutional hemolytic anemia (Panel)
CHU Henri Mondor
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)

SPAIN

Madrid
MADRID

Diagnosis of atypical hemolytic-uremic syndrome (CFH, CFHR1, CFHR3, CFHR4, CFHR5 genes)
Hospital Universitario La Paz
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis, Protein expression
Technical procedure(s) : Sanger sequencing, PCR based techniques, MLPA based techniques, Western Blot

ITALY

LOMBARDIA
RANICA

Molecular diagnosis of atypical hemolytic uremic syndrome (CFH, CD46, CFI, C3, THBD, CFB, DGKE genes)
Istituto di Ricerche Farmacologiche Mario Negri
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of atypical hemolytic uremic syndrome (gene panel)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis, Somatic genetics
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