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GERMANY

Nordrhein-Westfalen
BOCHUM

Diagnosis of neurodegeneration with brain iron accumulation (NGS screening panel: 8 genes)
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Diagnosis of rare forms of hemochromatosis and other abnormalities of iron metabolism (gene panel)
Hôpital Universitaire de Bruxelles (H.U.B) - Site Hôpital Erasme
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

GERMANY

Hamburg
HAMBURG

Diagnosis of aceruloplasminemia (CP gene)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Diagnosis of aceruloplasminemia (CP gene: sequencing)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

NETHERLANDS

Gelderland
NIJMEGEN

Molecular diagnosis of Movement Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

NETHERLANDS

Gelderland
NIJMEGEN

Diagnosis of Metabolic Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

GERMANY

Sachsen
WEIßWASSER

Diagnosis of aceruloplasminemia (CP gene)
Praxis Dr. Mato Nagel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

GERMANY

Nordrhein-Westfalen
DORTMUND

Diagnosis of aceruloplasminemia (CP gene)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

GERMANY

Bayern
MÜNCHEN

Diagnosis of aceruloplasminemia (CP gene)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Diagnosis of neurodegeneration with brain iron accumulation (Panel)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, array based techniques

FRANCE

BRETAGNE
RENNES

Diagnosis of iron metabolism disoders (Panel)
CHU de Rennes - Hôpital Pontchaillou
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, mlpa based techniques

NETHERLANDS

Noord-Holland
AMSTERDAM

Diagnosis of Dementia with or without ALS (gene panel)
Amsterdam UMC, locatie VUmc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), mlpa based techniques, whole exome sequencing (wes)

NETHERLANDS

Noord-Holland
AMSTERDAM

Diagnosis of Neurodegeneration with Brain Iron Accumulation (gene panel)
Amsterdam UMC, locatie VUmc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing, whole exome sequencing (wes)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Diagnosis of neurodegeneration with brain iron accumulation (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, mlpa based techniques

NETHERLANDS

Gelderland
NIJMEGEN

Molecular diagnosis of Vision Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

GERMANY

Baden-Württemberg
TÜBINGEN

Diagnosis of rare neurodegenerative diseases and movment disorder (NGS screening panel: 392 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

NETHERLANDS

Gelderland
NIJMEGEN

Diagnosis of Hereditary Hypoceruloplasminemia (CP gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

FRANCE

HAUTS-DE-FRANCE
LILLE

Diagnosis of Parkinson disease (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis ngs sequencing (except wes)

BELGIUM

OOST-VLAANDEREN
GENT

Diagnosis of rare movement disorders (gene panel)
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

BELGIUM

OOST-VLAANDEREN
GENT

Diagnosis of neurodegeneration with brain iron accumulation (gene panel)
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

SWITZERLAND

Suisse Romande
GENÈVE

Diagnosis of hemochromatosis (panel)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Diagnosis of hereditary intermediate metabolic diseases (Panel)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Diagnosis of monogenic diabetes (MODY, syndromic diabetes, mitochondrial diabetes) (Panel)
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), whole exome sequencing (wes)

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Diagnosis of Wilson's disease and other rare copper-related diseases (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, mlpa based techniques

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Diagnosis of aceruloplasminemia (CP gene)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons ngs sequencing (except wes), sanger sequencing

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Diagnosis of sideroblastic anemia and related to iron metabolism (Panel)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

GERMANY

Bayern
MÜNCHEN

Diagnosis of retinal dystrophies (NGS panel: 216 genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

NETHERLANDS

Noord-Holland
AMSTERDAM

Diagnosis of Hereditary Ceruloplasmin Deficiency (CP gene)
Amsterdam UMC, locatie AMC
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region sanger sequencing, pcr based techniques

CANADA

Ontario
LONDON

Molecular Diagnosis of Genetic Hyperferritinemia NGS Panel (15 genes)
London Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

ITALY

LAZIO
ROMA

Molecular diagnosis of Hallervorden-Spatz disease (PANK2 gene)
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MONZA

Molecular diagnosis of aceruloplasminemia (CP gene)
Fondazione IRCCS San Gerardo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of aceruloplasminemia (CP gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of aceruloplasminemia (CP gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of aceruloplasminemia (CP gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

SPAIN

Cataluña
BARCELONA

Diagnosis of inherited visual disorders
Universitat de Barcelona. Facultat de Biologia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), whole exome sequencing (wes)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of ataxia (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of neurodegeneration with brain iron accumulation (panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

SPAIN

Madrid
TRES CANTOS

Diagnosis of neurodegeneration with brain iron accumulation (panel)
Centro de estudios genéticos ATG Medical
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

SPAIN

Galicia
A CORUÑA

Diagnosis of neurodegeneration with brain iron accumulation (panel - 10 genes)
Health In Code. A Coruña
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons ngs sequencing (except wes)

SPAIN

Galicia
A CORUÑA

Diagnosis of rare movement disorder (panel - 123 genes)
Health In Code. A Coruña
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons ngs sequencing (except wes)

SPAIN

Galicia
A CORUÑA

Diagnosis of movement disorders of metabolic origin (panel - 32 genes)
Health In Code. A Coruña
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons ngs sequencing (except wes)

ITALY

CALABRIA
MANGONE

Molecular diagnosis of Hallervorden-Spatz disease (CP, FTL, PANK2, PLA2G6 genes)
CNR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of aceruloplasminemia (CP gene)
King's College Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis ngs sequencing (except wes)

HUNGARY

Közép-Magyarország
BUDAPEST

Molecular diagnosis of aceruloplasminaemia (CP gene)
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

PORTUGAL

NORTE
PORTO

Diagnosis of aceruloplasminemia (CP gene)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing