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GERMANY

Bayern
REGENSBURG

Accreditation
Molecular diagnosis of PRPH2 gene-associated eye diseases
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

ITALY

TOSCANA
FIRENZE

Accreditation
Molecular diagnosis of vitelliform dystrophy, adult-onset (RDS gene)
Azienda Ospedaliero Universitaria Careggi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of PRPH2 gene-associated eye diseases
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Molecular diagnosis of BEST1 gene-associated eye diseases
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of PRPH2 gene-associated eye diseases
CeGaT GmbH
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

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Macular Dystrophy (PROM1 and PRPH2 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of vitelliform macular dystrophy (BEST1, IMPG1, PRPH2 genes)
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

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of PRPH2 gene-associated eye diseases (sequencing, MLPA)
Pränatalmedizin München
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

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
Technical procedure(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
Technical procedure(s) : NGS sequencing (except WES)

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Molecular diagnosis of vitelliform macular dystrophy (BEST1, IMPG1, IMPG2, PRPH2 genes)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FRANCE

NORD-PAS-DE-CALAIS
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
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Molecular diagnosis of genetic vitreous-retinal disease related to BEST1 gene
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
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

AUSTRIA

WIEN
WIEN

Molecular diagnosis of vitelliform macular dystrophy (BEST1 and PRPH2 genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of adult-onset foveomacular vitelliform dystrophy (PRPH2 gene: sequencing)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Best disease - Vitelliform macular dystrophy (BEST1 and PRPH2 genes: Sequencing of the entire coding region and deletion/duplication analysis by MLPA)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of adult-onset foveomacular vitelliform dystrophy (BEST1 gene / sequencing)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of adult-onset foveomacular vitelliform dystrophy (BEST1, PRPH2 genes)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
CUSANO MILANINO

Postnatal molecular diagnosis of Best disease (BEST1 and PRPH2 genes)
Istituto Auxologico Italiano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of PRPH2 gene-associated eye diseases
Gemeinschaftspraxis für Humangenetik
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

ITALY

TRENTINO ALTO ADIGE
ROVERETO

Postnatal molecular diagnosis of adult-onset foveomacular vitelliform dystrophy (BEST1, IMPG1, IMPG2, PRPH2 genes)
MAGI'S LAB srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

NORD-PAS-DE-CALAIS
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
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of vitelliform macular dystrophy (BEST1, PRPH2 genes)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

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
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of adult-onset foveomacular vitelliform dystrophy (BEST1, PRPH2 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
Technical procedure(s) : Sanger sequencing, MLPA based techniques