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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of neuronal ceroid lipofuscinosis type 1, 2, 3, 4A, 5, 6, 7, 8, 10 (CLN3, CLN5, CLN6, CLN8, CTSD, MFSD8, PPT1 and TPP1 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
MANNHEIM

Accreditation
Molecular diagnosis of neuronal ceroid lipofuscinosis type 1, 2 and 10 (CTSD, PPT1, TPP1 genes)
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

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of neuronal ceroid lipofuscinosis type 1, 2, 3, 4A, 5, 6, 7, 8, 10, 11, 12 (ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, GRN, MFSD8, PPT1 and TPP1 genes)
CeGaT 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 in case of Unexplained Metabolic Disorders (exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : NGS sequencing (except WES)

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of neuronal ceroid lipofuscinosis type 1, 2, 3, 4A, 5, 6, 7, 8, 10 (CLN3, CLN5, CLN6, CLN8, CTSD, MFSD8, PPT1 and TPP1 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

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of neuronal ceroid lipofuscinosis type 1, 2, 3, 4A, 5, 6, 7, 8, 10, 11 (CLN3, CLN5, CLN6, CLN8, CTSD, GRN, MFSD8, PPT1 and TPP1 genes)
MVZ Fenner & Krasemann
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Neuronal Ceroid Lipofuscinosis (by DNA sequencing PPT1, CLN3, CLN5, CLN6, CLN8, CTSD, MFSD8, TPP1)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Metabolic Disease with Epilepsy (gene panel; EPI06v16.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

GERMANY

Bayern
MÜNCHEN

Accreditation
Heterozygote screening by NGS Inherited Disease Panel (Kingsmore)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of neuronal ceroid lipofuscinosis type 1, 2, 3, 4A, 5, 6, 7, 8, 10 (CLN3, CLN5, CLN6, CLN8, CTSD, MFSD8, PPT1 and TPP1 genes)
Pränatalmedizin München
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 CLN10 disease (CTSD gene / sequence analysis entire coding region)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation
Biochemical diagnosis of Lysosomal Storage disorders (Analyte: Chitotriosidase)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CANADA

Ontario
LONDON

Accreditation
Molecular Diagnosis of Lysosomal Storage Disorder - NGS Panel (50 genes)
London Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES)

ITALY

LAZIO
ROMA

Molecular diagnosis of neuronal ceroid lipofuscinosis (CLN6, PPT1 genes)
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of ceroid lipofuscinosis (PPT1, TPP1, CLN3, CLN5, CLN6, MFSD8, CLN8, CTSD genes)
IRCCS Ospedale Pediatrico Bambino Gesù
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of CLN10 disease (CTSD gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of ceroid lipofuscinosis type 3, 5, 6, 7, 8 and 10 (complete gene sequencing: CLN3, CLN5, CLN6, MFSD8, CLN8, CTSD)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of CLN10 disease (CTSD gene)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of CLN6 and CLN4A diseases (CLN6 gene / entire coding sequence)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of CLN10 disease (CTSD gene / entire coding sequence)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of rare epilepsy (gene panel)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), MLPA based techniques

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of neuronal ceroid lipofuscinosis (gene panel)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of myoclonic epilepsy (panel)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

ITALY

LIGURIA
GENOVA

Biochemical diagnosis of neuronal ceroid lipofuscinosis
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of neuronal ceroid lipofuscinosis (PPT1, TPP1, CLN3, CLN6, CLN5, CTSD genes)
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Biochemical and molecular diagnosis of neuronal ceroid lipofuscinosis (CLN3, CLN5, CLN6, CLN8, CTSD, MFSD8, PPT1, TPP1 genes)
IRCCS Ospedale Pediatrico Bambino Gesù
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Bayern
MÜNCHEN

Biochemical diagnosis of neuronal ceroid lipofuscinosis
Labor für molekulare Genetik und metabolische Erkrankungen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Niedersachsen
GÖTTINGEN

Biochemical and molecular diagnosis of NCL (enzyme asay: PPT1, TPP1, Cathepsin D / genes: CLN1-3, CLN5-8, CTSD)
Universitätsmedizin Göttingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Limburg
MAASTRICHT

Biochemical marker for Lysosomal Storage Diseases (Analyte: Chitotriosidase)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of neuronal ceroid lipofuscinosis (PPT1 gene / mutations R122W and R151X; TPP1 gene / mutations IVS5-1G>C, R208X; CLN3, CLN5, CLN6, CLN8, MFSD8, DNAJC5, CTSD 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