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ITALY

TOSCANA
FIRENZE

Accreditation
Molecular diagnosis of Stargardt disease (ABCA4, ELOVL4 genes)
Azienda Ospedaliero Universitaria Careggi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Bayern
REGENSBURG

Accreditation
Molecular diagnosis of Stargardt disease type 1 (ABCA4 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

BELGIUM

OOST-VLAANDEREN
GENT

Accreditation
Molecular diagnosis of Stargardt disease (ABCA4 gene)
Center for Medical Genetics Gent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Stargardt Disease type 1 (ABCR gene)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Stargardt Disease type 1 and 4 (ABCA4 and PROM1 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

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of Stargardt disease / Fundus flavimaculatus (ABCA4, ELOVL4, PROM1 genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ESTONIA

Tartu
TARTU

Accreditation
Molecular diagnosis of Stargardt disease (NGS panel: ABCA4, CNGB3, ELOVL4, PROM1; APEX panel of mutations: ABCA4)
Asper Biotech Ltd.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), PCR based techniques

UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation
Molecular diagnosis of Stargardt disease (ABCA4 gene: mutation screening by sequencing and dosage by MLPA)
The Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : MLPA based techniques

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of Stargardt disease / Fundus flavimaculatus (ABCA4, ELOVL4, PROM1 genes: sequencing)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of Stargardt disease (ABCA4, CNGB3, ELOVL4 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

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Juvenile Macular Degeneration (CNGB3 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

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of Stargardt disease / Fundus flavimaculatus (ABCA4, ELOVL4, PROM1 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

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of Stargardt disease type 1 (ABCA4 gene)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Prominin-related Retinal Degeneration (PROM1 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

SPAIN

Cataluńa
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of Stargardt disease (ABCA4 gene)
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), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Stargardt disease (ABCA4, CNGB3, ELOVL4, PROM1, PRPH2 genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of cone rod dystrophy (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)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of macular dystrophy (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)

NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Stargardt Disease type 1 (ABCA4 gene)
Erasmus MC, Faculteitsgebouw
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

FRANCE

HAUTS-DE-FRANCE
LILLE

Molecular diagnosis of Stargardt disease (ABCA4, PRPH2 and ELOVL4 genes)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis, Pre-symptomatic 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, MLPA based techniques

ESTONIA

Tartu
TARTU

Molecular diagnosis of Stargardt disease (ABCA4 gene)
Tartu University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of Stargardt disease (ABCA4 gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Molecular diagnosis of Stargardt disease: complete sequencing of ABCA4 gene
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

FRANCE

HAUTS-DE-FRANCE
LILLE

Molecular diagnosis of peripherine-related retinal dystrophies (PRPH2 gene)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : 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, MLPA based techniques

SPAIN

Andalucía
SEVILLA

Molecular diagnosis of Stargardt disease (ABCA4 gene)
Hospital Universitario Virgen del Rocío
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of Stargardt disease (ABCA4, ELOVL4 genes)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of Stargardt disease type 1 (ABCA4 gene: sequencing, MLPA)
Gemeinschaftspraxis für Humangenetik
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

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of Stargardt disease (ABCA4 gene)
Biotecnologie Avanzate Srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Stargardt disease (ABCA4 and ELOVL4 genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

La Rioja
LOGROŃO

Diagnosis of Stargardt disease (ABCA4, ELOVL4 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, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of Stargardt disease (ABCA4 gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

TRENTINO ALTO ADIGE
ROVERETO

Postnatal molecular diagnosis of Stargardt disease (ABCA4 and ELOVL4 genes)
MAGI'S LAB srl
Purpose(s) : 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, MLPA based techniques

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of Stargardt disease (ABCA4, ELOVL4, PROM1 genes / sequencing)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of Stargardt disease (ABCA4, PROM1, PRPH2, ELOVL4 genes)
IRCCS Ospedale Pediatrico Bambino Gesů
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

ITALY

LOMBARDIA
CUSANO MILANINO

Postnatal molecular diagnosis of Stargardt disease (ABCA4 and ELOVL4 genes)
Istituto Auxologico Italiano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

HAUTS-DE-FRANCE
LILLE

Diagnosis of macular dystrophy (Panel)
CHRU de Lille - Centre de Biologie Pathologie Génétique
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)

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of Stargardt disease (ABCA4 gene)
DNA Data
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

Baden-Württemberg
FREIBURG

Molecular diagnosis of Stargardt disease and other macular dystrophies (ABCA4, BEST1, CNGB3, ELOVL4, IMPG1, PROM1, PRPH2 genes)
Institut für Humangenetik am Universitätsklinikum Freiburg
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) : NGS sequencing (except WES), Sanger sequencing

HUNGARY

Dél-Dunántúl
PECS

Diagnosis of Stargardt disease (UEP and CFF)
Department of Ophthalmology - Clinical Center - University of Pécs
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Stargardt disease (ABCA4, ELOVL4, PROM1 genes; CNGB3 candidate gene)
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
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Molecular diagnosis of Stargardt disease and other macular dystrophies (NGS Screening Panel - genes: ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, FSCN2, PRPH2, PROM1, RDH12, RP1L1, RPGR, TIMP3)
Department für Augenheilkunde Tübingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluńa
BARCELONA

Molecular diagnosis of Stargardt disease (ABCA4 gene)
Universitat de Barcelona. Facultat de Biologia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of Stargardt disease (ABCA4 gene)
IRCCS Fondazione Santa Lucia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics