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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Congenital Stationary Night Blindness (NYX and CACNA1F genes)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ESTONIA

Tartu
TARTU

Accreditation
Molecular diagnosis of congenital stationary night blindness (NGS panel: CABP4, CACNA1F, CHM, GNAT1, GRK1, GRM6, NYX, PDE6B, RDH5, RHO, SAG, SLC24A1, TRPM1; APEX panel: RHO, PDE6B, GNAT1, CABP4, GRM6, SAG, NYX, CACNA1F, CACNA2D4, GRK1, TRPM1)
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), PCR based techniques

GERMANY

Bayern
REGENSBURG

Accreditation
Molecular diagnosis of congenital stationary night blindness (GNAT1, NYX genes)
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 congenital stationary night blindness (CABP4, CACNA1F, GNAT1, GRM6, NYX, PDE6B, RHO and TRPM1 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

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of congenital stationary night blindness (RHO gene)
Zentrum für Humangenetik Mannheim
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 Congenital Stationary Night Blindness (CABP4 and GPR179 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

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

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of congenital stationary night blindness (CABP4, PDE6B, RHO 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

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of congenital stationary night blindness (NYX gene: sequencing)
CeGaT GmbH
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 congenital stationary night blindness (NGS Screening Panel - genes: CABP4, CACNA1F, GNAT1, GRK1, GRM6, NYX, PDE6B, RHO, SAG, TRPM1, SLC24A1, RDH5, GPR179)
Azienda Ospedaliero Universitaria Careggi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : NGS sequencing (except WES)

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of congenital stationary night blindness (CABP4, CACNA1F, GNAT1, GRM6, NYX, PDE6B, RHO, SLC24A1 and TRPM1 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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of congenital stationary night blindness (NYX gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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 congenital stationary night blindness (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)

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Molecular diagnosis of Congenital stationary night blindness: complete sequencing of NYX and GRM6 genes
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Molecular diagnosis of Congenital stationary night blindness, incomplete type (CSNB2): complete sequencing of CACNA1F and CABP4 genes
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

CANADA

Alberta
CALGARY

Molecular Diagnosis of Congenital Stationary Night Blindness (CACNA1F c.3166 dup C targeted mutation analysis)
Alberta Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

ITALY

LOMBARDIA
CUSANO MILANINO

Postnatal molecular diagnosis of congenital stationary night blindness (CACNA1F and CACNA1B 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)

ITALY

TRENTINO ALTO ADIGE
ROVERETO

Postnatal molecular diagnosis of congenital stationary night blindness (CABP4, CACNA1F, GNAT1, GPR179, GRM6, NYX, PDE6B, RHO, TRPM1, LRIT3, SLC24A1 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)

GERMANY

Baden-Württemberg
TÜBINGEN

Molecular diagnosis of congenital stationary night blindness (NGS Screening Panel - genes: CABP4, CACNA1F, CACNA2D4, GNAT1, GRK1, GRM6, NYX, PDE6B, RHO, SAG, TRPM1, SLC24A1)
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)

GERMANY

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

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of congenital stationary night blindness (RHO, GNAT1, PDE6B, TRPM1, GRM6, CABP4, SLC24A1, NYX, CACNA1F, GRK1, SAG 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
Technical procedure(s) : Sanger sequencing

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Diagnosis of intellectual disability (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)