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BELGIUM

OOST-VLAANDEREN
GENT

Accreditation
Molecular diagnosis of amaurosis congenita of Leber (CEP290/NPHP6, GUCY2D, AIPL1, CRX, CRB1, RPE65 genes)
Center for Medical Genetics Gent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
REGENSBURG

Accreditation
Molecular diagnosis of amaurosis congenita of Leber (GUCY2D, RPE65, RDH12, AIPL1, RPGRIP1, CRX, CRB1, LRAT, MERTK, CEP290 genes)
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 amaurosis congenita of Leber (RPE65,GUCY2D,RDH12, AIPL1,CRX,CRB1,RPGRIP1,LRAT,MERTK, CEP290,TULP1 genes)
Azienda Ospedaliero Universitaria Careggi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Leber Congenital Amaurosis (CRB1, RPE65, CRX, GUCY2D, AIPL1 and RPGRIP1 gene)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ESTONIA

Tartu
TARTU

Accreditation
Molecular diagnosis of Leber congenital amaurosis (NGS panel: AIPL1, CABP4, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1; APEX panel: AIPL1, CRB1, CRX, GUCY2D, LRAT, TULP1, MERTK, CEP290, RDH12, RPGRIP1, LCA5, RPE65, SPATA7, IQCB, RD3; Sanger sequencing: GUCY2D, RPE65)
Asper Biotech Ltd.
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, PCR based techniques

GERMANY

Sachsen
WEIßWASSER

Accreditation
Molecular diagnosis of amaurosis congenita of Leber (CEP290 gene)
Praxis Dr. Mato Nagel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of amaurosis congenita of Leber (AIPL1, CEP290, CNGA3, CRX, GUCY2D, IMPDH1, LCA5, LRAT, RD3, RDH12, RPE65, SPATA7, TULP1 genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of amaurosis congenita of Leber (genes: AIPL1, CEP290, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, LCA5, LRAT, NMNAT1, RDH12, RD3, RPE65, RPGRIP, SPATA7, TULP1: sequencing, linkage analysis)
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

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Leber Congenital Amaurosis type 1, 2, 3, 4, 5, 6, 8, 10, 13 and 14 (GUCY2D, RPE65, SPATA7, AIPL1, LCA5, RPGRIP1, CRB1, CEP290, RDH12 and LRAT gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of amaurosis congenita of Leber (AIPL1, CEP290, CRB1, CRX, GUCY2D, IMPDH1, LCA5, LRAT, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1 genes: sequencing)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of amaurosis congenita of Leber (CEP290 gene)
MVZ Fenner & Krasemann
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
MARTINSRIED

Accreditation
Molecular diagnosis of Leber congenital amaurosis (CEP290 gene)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of Leber congenital amaurosis (RPE65 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

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

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)

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of amaurosis congenita of Leber (AIPL1, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13, LRAT, RD3, RDH12, RPE65, SPATA7, TULP1 genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

ESTONIA

Tartu
TARTU

Molecular diagnosis of amaurosis congenita of Leber (CRB1, AIPL1, GUCY2D, CRX, RPE65, RPGRIP1, MERTK and LRAT genes)
Tartu University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of Leber congenital amaurosis. CRX gene.
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Molecular diagnosis of Congenital Leber amaurosis (RPE65 and AIPL1 genes)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of congenital Leber amaurosis (RDH12, CEP290, CRB1, GUCY2D, IMPDH1, LRAT, RPE65 genes)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of Leber congenital amaurosis (RPE65 gene)
Biotecnologie Avanzate Srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Leber congenital amaurosis (GUCY2D, RPE65, AIPL1, and CRB1 genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Leber congenital amaurosis (GUCY2D gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of Leber congenital amaurosis (CEP290 gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of Leber congenital amaurosis (AIPL1, CEP290, CRB1, CRX, GUCY2D, RPE65, RPGRIP1 genes / sequencing)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Leber congenital amaurosis (LRAT, CEP290, CRX 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

ITALY

LAZIO
ROMA

Molecular diagnosis of Leber congenital amaurosis (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
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of Leber congenital amaurosis (CEP290 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

ITALY

TRENTINO ALTO ADIGE
ROVERETO

Postnatal molecular diagnosis of Leber congenital amaurosis (AIPL1, CEP290, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1, GDF6 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
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
TÜBINGEN

Molecular diagnosis of congenital Leber amaurosis (NGS Screening Panel - genes: AIPL1, CEP290, CRB1, CRX, GUCY2D, IQCB1, LRAT, RDH5, RDH12, RPGRIP1, RPE65, SPATA7)
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 congenital Leber amaurosis (GUCY2D, CEP290, RPE65, CRB1, AIPL1, RPGRIP1, RDH12, CRX, LCA5, TULP1, LRAT, KCNJ3, RD3, SPATA7, IMPDH1, IQCB1 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

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

Cataluña
BARCELONA

Molecular diagnosis of congenital Leber amaurosis (CRX, IMPDH1, RD3, RPE65 and RPGRIP1 genes)
Universitat de Barcelona. Facultat de Biologia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
MAJADAHONDA

Molecular diagnosis of congenital Leber amaurosis (sequencing of RPGRIP1, LRAT and RPE65 genes)
Genyca Innova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

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