Search for a diagnostic test
28 Result(s)
Caption
: Accreditation
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FRANCE
ILE-DE-FRANCE
PARIS
Diagnostic de l'hyperaldostéronisme familial type 1 (gène CYP11B2)
AP-HP. Centre - Université de Paris - HEGP Hôpital Européen Georges Pompidou
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

GERMANY
Niedersachsen
HANNOVER
Diagnosis of congenital adrenal hyperplasia (CYP11B1, CYP21A2, HSD3B2 genes)
amedes genetics im MVZ wagnerstibbe
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

GERMANY
Nordrhein-Westfalen
BOCHUM
Diagnosis of glucocorticoid-suppressible hyperaldosteronism (CYP11B1, CYP11B2 genes)
Ruhr-Universität Bochum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

GERMANY
Sachsen
WEIßWASSER
Diagnosis of glucocorticoid-suppressible hyperaldosteronism (CYP11B2/1 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

NETHERLANDS
Noord-Holland
AMSTERDAM
Diagnosis of Familial Hyperaldosteronism type I and III (CYP11B1/CYP11B2 fusion gene and KCNJ5 gene)
Amsterdam UMC, locatie AMC
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing, MLPA based techniques

NETHERLANDS
Gelderland
NIJMEGEN
Molecular diagnosis of Glucocorticoid Remediable Aldosteronism (CYP11B1-CYP11B2 fusion gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

GERMANY
Sachsen
DRESDEN
Diagnosis of familial hyperaldosteronism type 1 (CYP11B1 gene)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

GERMANY
Rheinland-Pfalz
INGELHEIM AM RHEIN
Diagnosis of familial hyperaldosteronism type 1 (CYP11B2 gene: sequencing)
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

GERMANY
Bayern
MÜNCHEN
Diagnosis of familial hyperaldosteronism type 1 (CYP11B1 gene: sequencing)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of familial hyperaldosteronism (panel)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ITALY
TRENTINO ALTO ADIGE
ROVERETO
Diagnosis of monogenic hypertension [panel of genes]
MAGI'S LAB srl
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

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

FRANCE
AUVERGNE-RHONE-ALPES
LYON
Diagnosis of nephropathies (Whole exome)
Eurofins Biomnis
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

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

UNITED KINGDOM
Grampian
ABERDEEN
Diagnosis of Glucocorticoid Remediable Aldosteronism - GRA (Genes: CPY11B1, CPY11B2)
Aberdeen Royal Infirmary, Polwarth Building
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

UNITED KINGDOM
Cambridgeshire
CAMBRIDGE
Molecular diagnosis of Glucocorticoid Remediable Aldosteronism -GRA (unequal crossover of CYP11B2/CYP11B2)
Addenbrooke's Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

GERMANY
Schleswig-Holstein
KIEL
Diagnosis of familial hyperaldosteronism type 1 (CYP11B1, CYP11B2 genes)
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

SPAIN
Galicia
SANTIAGO DE COMPOSTELA
Diagnosis of hyperaldosteronism familial type (CYP11B1 gene)
Complejo Hospitalario Universitario de Santiago
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

SPAIN
Madrid
MADRID
Diagnosis of familial hyperaldosteronism type 1 (CYP11B1/B2 genes, duplication hybrid gene)
Hospital Materno Infantil Gregorio Marañón
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

SPAIN
Andalucía
MÁLAGA
Diagnosis of familial hyperaldosteronism type I (CYP11B1, CYP11B2 genes)
Health in Code. Málaga
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

SPAIN
Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of familial hyperaldosteronism type 1 (CYP11B1/CYP11B2 fusion gene)
LabGenetics - 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
Technique(s)
: PCR based techniques

GERMANY
Mecklenburg-Vorpommern
ROSTOCK
Diagnosis of familial hyperaldosteronism type 1 (CYP11B2 gene)
CENTOGENE GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

GERMANY
Nordrhein-Westfalen
KÖLN
Diagnosis of familial hyperaldosteronism (CYP11B1, CYP11B2, KCNJ5 genes)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

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

SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of mitochondrial disorders due to nuclear DNA anomalies (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

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
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

PORTUGAL
NORTE
PORTO
Molecular diagnosis of Familial hyperaldosteronism type 1 (CYP11B2 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

AUSTRIA
WIEN
WIEN