Search for a diagnostic test
43 Result(s)
Caption
: Accreditation
= ;

Bayern
REGENSBURG
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
Technique(s)
: Sanger sequencing

TOSCANA
FIRENZE
Molecular diagnosis of cone rod dystrophy (ABCA4 gene)
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)

Tartu
TARTU
Molecular diagnosis of Stargardt disease (panel)
Asper Biogene
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Bayern
REGENSBURG
Molecular diagnosis of cone rod dystrophy (ABCA4, AIPL1, CERKL, CNGB3, CRX, GUCA1A, GUCY2D, KCNV2, PROM1, PRPH2, RDH5, RIMS1, RPGR, RPGRIP1, SEMA4A genes)
Universitätsklinikum Regensburg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
MANNHEIM
Molecular diagnosis of RPGR gene associated retinal diseases
Zentrum für Humangenetik Mannheim
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Gelderland
NIJMEGEN
Molecular diagnosis of Cone Rod Dystrophy (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

Mecklenburg-Vorpommern
ROSTOCK
Molecular diagnosis of cone- / cone rod dystrophies (ABCA4, ADAM9, AIPL1, CACNA2D4, CDHR1, CERKL, CNGB3, CRX, GUCA1A, GUCY2D, KCNV2, PDE6C, PITPNM3, PROM1, PRPH2, RAX2, RDH5, RIMS1, RPGRIP1, SEMA4A, UNC119 genes - NGS Screening Panel)
Centogene AG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Rheinland-Pfalz
INGELHEIM AM RHEIN
Molecular diagnosis of cone rod dystrophy (ABCA4, AIPL1, CACNA1F, CRX, GUCA1A, GUCY2D, KCNV2, OPN1LW, PDE6C, PROM1, PRPH2, RPGR, RPGRIP1, UNC119 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

Tartu
TARTU
Molecular diagnosis of cone rod dystrophy (panel of 32 genes)
Asper Biogene
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Gelderland
NIJMEGEN
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

Bayern
MÜNCHEN
Molecular diagnosis of cone rod dystrophy (ABCA4, ADAM9, CACNA1F, CACNA2D4, CDHR1, CRX, GUCA1A, GUCY2D, KCNV2, PDE6C, PITPNM3, PROM1, RAX2, RIMS1, RPGR, SEMA4A genes)
Pränatalmedizin München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

ILE-DE-FRANCE
PARIS
Diagnosis of ciliopathy (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)

ILE-DE-FRANCE
PARIS
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)

ILE-DE-FRANCE
PARIS
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)

ILE-DE-FRANCE
PARIS
Diagnosis of ciliopathy (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)

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of retinal dystrophy (gene panel)
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

TIROL
INNSBRUCK
Molecular diagnosis of Cone rod dystrophy (ABCA4, GUCY2D, PROM1, PRPH2, RPGR, and CRX genes)
Medizinische Universität Innsbruck
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Nordrhein-Westfalen
AACHEN
Molecular diagnosis of syndromal ciliopathies (NGS panel, 70 genes)
Universitätsklinikum Aachen
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)
: NGS sequencing (except WES)

Baden-Württemberg
TÜBINGEN
Molecular diagnosis of cone rod dystrophy (ABCA4, ADAM9, AIPL1, CACNA1F, CACNA2D4, CDHR1, CRX, GUCA1A, GUCY2D, PROM1, PRPH2, RAX2, RIMS1, RPGR, RPGRIP1, SEMA4A, UNC119 genes: sequencing)
CeGaT GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

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

Andalucía
MÁLAGA
Diagnosis of cone rod dystrophy (ABCA4, RPGR, GUCA1A genes)
Genetaq
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Andalucía
SEVILLA
Diagnosis of cone rod dystrophy (CRX, GUCY2D, RIMS1, RPGR and CACNA1F genes)
Hospital Universitario Virgen del Rocío
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques

WIEN
WIEN
Molecular diagnosis of cone rod dystrophy (CRX, ABCA4, and GUCY2D genes)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

NORTE
PORTO
Molecular diagnosis of Cone rod dystrophy - X linked (RPGR gene: Sequencing of 15a exon)
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Comunidad Valenciana
PATERNA
Molecular diagnosis of cone rod dystrophy (ABCA4, CRX, GUCY2D genes / entire coding sequence by NGS)
IMEGEN - Instituto de Medicina Genómica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

LAZIO
ROMA
Molecular diagnosis of cone rod distrophy (ABCA4, CRX, GUCY2D, RPGR, ADAM9, C8ORF37, CDHR1, CERKL, CNGA3, CNGB3, RAB28, RPGRIP1, SEMA4A, AIPL1, GUCA1A, PITPNM3, PROM1, PRPH2, RAXL1, RIMS1, CACNA1F genes)
IRCCS Ospedale Pediatrico Bambino Gesù
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

LOMBARDIA
CUSANO MILANINO
Postnatal molecular diagnosis of cone rod dystrophy (CRX, GUCA1A, GUCY2D, RPGR 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)

TRENTINO ALTO ADIGE
ROVERETO
Postnatal molecular diagnosis of cone rod dystrophy (ABCA4, ADAM9, AIPL1, C8ORF37, CACNA1F, CDHR1, CNGA3, CRX, GUCY2D, PITPNM3, PROM1, PRPH2, RAB28, RAX2, RIMS1, RPGR, RPGRIP1, SEMA4A, POC1B, CACNA2D4, UNC119, TTLL5 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

Baden-Württemberg
STUTTGART
Molecular diagnosis of cone rod dystrophy (CDHR1 gene)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

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)

Comunidad Valenciana
ELCHE
Diagnosis of genetic macular dystrophy (gene panel)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Baden-Württemberg
FREIBURG
Molecular diagnosis of cone and cone rod dystrophy (ABCA4, ADAM9, AIPL1, CACNA1F, CNGA3, CNGB3, CRX, GUCY2D, KCNV2, PDE6C, PROM1, PRPH2, RPGR, RPGRIP1 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

WIEN
WIEN
Molecular diagnosis of cone rod dystrophy (CRX, GUCY2D, PRPH2, RPGR, and RPGRIP1 genes)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

WIEN
WIEN
Molecular diagnosis of cone rod dystrophy (CACNA2D4 gene)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

VENETO
PADOVA
Molecular diagnosis of genetic vitreous-retinal diseases [panel of genes]
Research&Innovation S.r.l. (R&I Genetics)
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), Whole Exome Sequencing (WES)

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)

Baden-Württemberg
TÜBINGEN
Molecular diagnosis of cone- / cone rod dystrophies (NGS Screening Panel - genes: ABCA4, ADAM9, AIPL1, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CRX, GUCA1A, GUCY2D, KCNV2, PDE6C, PITPNM3, PROM1, PRPH2, RAX2, RGS9BP, RDH5, RGS9, RPGR, RPGRIP1, RIMS1, SEMA4A)
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)

Cataluña
BARCELONA
Molecular diagnosis of cone rod dystrophy (ABCA4, CRX, PRPH2 and RPGRIP1 genes)
Universitat de Barcelona. Facultat de Biologia
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of cone rod dystrophy (CRX, GUCY2D, AIPL1, ABCA4, RPGR, CACNA1F, GUCA1A 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
Technique(s)
: Sanger sequencing

AUVERGNE-RHONE-ALPES
BRON
Diagnosis of congenital heart malformations (Panel)
CHU de Lyon HCL - GH Est
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

Cataluña
BARCELONA
Diagnosis of retinal dystrophy (gene panel)
Universitat de Barcelona. Facultat de Biologia
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)

Fyn
ODENSE
Diagnosis of macular dystrophies (Panel)
Amplexa Genetics A/S
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, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

Fyn
ODENSE