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Caption : Accreditation =Accreditation
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    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Heterozygote screening by NGS Inherited Disease Panel (Kingsmore)
    • Pränatalmedizin München
    • More information
    • 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
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of neuronal ceroid lipofuscinosis type 1 (PPT1 gene)
    • Medizinisch Genetisches Zentrum München
    • More information
    • FINLAND
    • Finland
    • HELSINKI
    • Accreditation
    • Molecular diagnosis of infantile, late infantile and juvenile neuronal ceroid lipofuscinoses (PPT1 gene: c.364A>T ; CLN3 gene: c.461_677del and c.791_1056del and CLN5 gene: c.1175_1176delAT)
    • HUCH - Helsinki University Central Hospital
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Accreditation
    • Molecular diagnosis of CLN1 disease - neuronal ceroid lipofuscinosis type 1 (PPT1 gene)
    • Great Ormond Street Hospital for Children, York House
    • More information
    • GERMANY
    • Baden-Württemberg
    • MANNHEIM
    • Accreditation
    • Molecular diagnosis of neuronal ceroid lipofuscinosis type 1, 2 and 10 (CTSD, PPT1, TPP1 genes)
    • Zentrum für Humangenetik Mannheim
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Accreditation
    • Molecular diagnosis of Ceroid Lipofuscinosis (multigene panel; 13 genes)
    • Erasmus MC, Faculteitsgebouw
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • LEIDEN
    • Accreditation
    • Molecular diagnosis of adult and late infantile Neuronal Ceroid Lipofuscinosis (TPP1, PPT1, CLN6 and CLN8 gene)
    • LUMC - Leids Universitair Medisch Centrum
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis in case of Unexplained Metabolic Disorders (exome sequencing)
    • Radboudumc - Radboud universitair medisch centrum
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of neuronal ceroid lipofuscinosis type 1, 3, 4A, 4B, 6, 8, 12 (ATP13A2, CLN3, CLN6, CLN8, DNAJC5, PPT1 genes)
    • Praxis für Humangenetik Freiburg
    • More information
    • FRANCE
    • MIDI-PYRENEES
    • TOULOUSE
    • Accreditation
    • Biochemical (enzymatic) diagnosis of ceroid lipofuscinosis1 (palmitoyl protein thioesterase deficiency) and ceroid lipofuscinosis 2 (tripeptidyl peptidase I deficiency)
    • CHU de Toulouse - Hôpital Purpan
    • More information
    • 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
    • More information
    • 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
    • More information
    • SWEDEN
    • Västra Götalandsregionen
    • GÖTEBORG
    • Accreditation
    • Biochemical diagnosis of infantile neuronal ceroid lipofuscinosis (Palmitoyl-protein thioesterase activity assay)
    • Sahlgrenska university hospital
    • More information
    • 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
    • More information
    • 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
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Accreditation
    • Molecular diagnosis of CLN1 disease (PPT1 gene / sequence analysis entire coding region, mutation scanning (R151X))
    • Reference Laboratory Genetics
    • More information
    • 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
    • More information
    • CANADA
    • Ontario
    • TORONTO
    • Accreditation
    • Molecular Diagnosis of Neuronal Ceroid Lipofuscinosis (PPT1, TPP1, CLN3 targeted mutation analysis)
    • The Hospital for Sick Children and University of Toronto
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Biochemical and molecular diagnosis of neuronal ceroid lipofuscinosis CLN1-3 (CLN3, PPT1, TPP1 genes)
    • UKE - Universitätsklinikum Hamburg-Eppendorf
    • More information
    • UNITED KINGDOM
    • Greater Manchester
    • MANCHESTER
    • Accreditation
    • Biochemical diagnosis of Lysosomal Storage disorders (Analyte: Chitotriosidase)
    • St Mary's Hospital
    • More information
    • UNITED KINGDOM
    • Avon
    • BRISTOL
    • Accreditation
    • Biochemical diagnosis of Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)
    • Bristol Royal Infirmary
    • More information
    • ISRAEL
    • ISRAEL
    • JERUSALEM
    • Accreditation
    • Molecular and Biochemical diagnosis of Neuronal Ceroid Lipofuscinosis type 1 and 2 (PPT1, TPP1)
    • Hadassah Ein Kerem - Hebrew University Medical Center
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Biochemical diagnosis of Infantile Neuronal Ceroid Lipofuscinosis (Analyte: Palmitoyl-protein Thioesterase)
    • AMC - Academisch Medisch Centrum
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Biochemical diagnosis of Late Infantile Neuronal Ceroid Lipofuscinosis (Analyte: Tripeptidyl Peptidase 1)
    • AMC - Academisch Medisch Centrum
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Biochemical diagnosis of neuronal ceroid lipofuscinosis type 1 and 2
    • CHU de Lyon HCL - GH Est
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Molecular diagnosis of neuronal ceroid lipofuscinosis (PPT1, TPP1, CLN3, CLN6, CLN5, CTSD genes)
    • Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of neuronal ceroid lipofuscinosis (CLN6, PPT1 genes)
    • Laboratorio Genoma
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Molecular diagnosis of neuronal ceroid lipofuscinosis (CLN1, CLN2 and CLN3 genes)
    • UKE - Universitätsklinikum Hamburg-Eppendorf
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of CLN1 disease (PPT1 gene)
    • Medizinische Universität Wien
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Biochemical and molecular diagnosis of ceroid lipofuscinosis type 1 and 2 (enzyme assay and complete gene sequencing: PPT1, TPP1)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of neuronal ceroid lipofuscinosis (PPT1, TPP1, CLN3 and CLN8 genes)
    • Centro de Diagnóstico Biomédico - CDB
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of neuronal ceroid lipofuscinosis (CLN5, CLN8, PPT1, TPP1, CTSD, MFSD8 genes: Target mutation analysis - panel of mutations (D279N, Y258D, Q189X; R24Q; R151X; IVS5-1G>C, R208X and sequencing of the entire coding region for CTSD, PPT1, CLN8 and MFSD8 genes)
    • CGC Genetics / Centro de Genética Clínica
    • More information
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • Biochemical diagnosis of infantile neuronal ceroid lipofuscinosis (Palmitoyl-protein thioesterase activity assay)
    • Karolinska University Hospital - Solna
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of infantile neuronal ceroid lipofuscinosis (PPT1 gene: sequencing, mutation R151X)
    • Genetaq
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of CLN1 disease (PPT1 gene / p.Arg122Trp and p.Arg151X mutations, entire coding sequence)
    • IMEGEN - Instituto de Medicina Genómica
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of ceroid lipofuscinosis (PPT1, TPP1, CLN3, CLN5, CLN6, MFSD8, CLN8, CTSD genes)
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Biochemical diagnosis of CLN1 disease (fluorometric determination of palmitoyl-protein-thioesterase)
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Molecular diagnosis of neuronal ceroid lipofuscinosis type 1, 2, 4A and 6 (CLN6, PPT1 and TPP1 genes: sequencing)
    • Gemeinschaftspraxis für Humangenetik
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Biochemical diagnosis of neuronal ceroid lipofuscinosis, type 1
    • Fondazione IRCCS Istituto Neurologico "Carlo Besta"
    • More information
    • ITALY
    • LIGURIA
    • GENOVA
    • Biochemical diagnosis of neuronal ceroid lipofuscinosis
    • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Biochemical diagnosis of neuronal ceroid lipofuscinosis
    • Labor für molekulare Genetik und metabolische Erkrankungen
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of infantile neuronal ceroid lipofuscinosis (analyte: palmitoyl-protein thioesterase)
    • Centro de Diagnóstico Biomédico - CDB
    • More information
    • ITALY
    • CALABRIA
    • MANGONE
    • Molecular diagnosis of ceroid lipofuscinosis, neuronal (PPT1 gene)
    • CNR
    • More information
    • ITALY
    • TOSCANA
    • SIENA
    • Enzymatic and molecular diagnosis of ceroid lipofuscinosis type I and II (TPP1 gene)
    • Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
    • More information
    • 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
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Biochemical and molecular diagnosis of neuronal ceroid lipofuscinosis types 1 and 2 (PPT1 and TPP1 genes)
    • CGMJM - Centro de Genética Médica Jacinto Magalhães
    • More information
    • FINLAND
    • Finland
    • TURKU
    • Molecular diagnosis of infantile neuronal ceroid lipofuscinosis (PPT1 gene)
    • Turku University Hospital
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of infantile and late infantile neuronal ceroid lipofuscinosis
    • Hospital Universitari Vall d'Hebron - Area Materno Infantil
    • More information
    • GREECE
    • ATTIKI
    • ATHENS
    • Biochemical diagnosis of infantile neuronal ceroid lipofuscinosis (enzyme assay of palmitoyl protein thioesterase 1)
    • Institute of Child Health
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Biochemical diagnosis of Infantile Neuronal Ceroid Lipofuscinosis (Analyte: Palmitoyl-protein Thioesterase)
    • Radboudumc - Radboud universitair medisch centrum
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Biochemical diagnosis of Santavuori-Haltia Disease (Analyte: Palmitoyl-protein Thioesterase)
    • Erasmus MC, Faculteitsgebouw
    • More information
    • TURKEY
    • TURKEY
    • ISTANBUL
    • Molecular diagnosis of neuronal ceroid lipofuscinosis CLN1, CLN2 and CLN3 (PPT1, TPP1 and CLN3 genes)
    • BURC Genetics Diagnostic Center
    • More information
    • GERMANY
    • Niedersachsen
    • GÖTTINGEN
    • Biochemical and molecular diagnosis of NCL (enzyme asay: PPT1, TPP1, Cathepsin D / genes: CLN1-3, CLN5-8, CTSD)
    • Universitätsmedizin Göttingen
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Biochemical diagnosis of Neuronal Ceroid Lipofuscinosis (Analyte: Palmitoyl-proteine thioesterase & tripeptidyl-peptidase)
    • Guy's Hospital
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Biochemical diagnosis of Neuronal Ceroid Lipofuscinosis (Analytes: Palmitoyl-proteine thioesterase & tripeptidyl-peptidase)
    • Great Ormond Street Hospital for Children, NHS Foundation Trust
    • More information
    • NETHERLANDS
    • Limburg
    • MAASTRICHT
    • Biochemical marker for Lysosomal Storage Diseases (Analyte: Chitotriosidase)
    • AZM - Academisch Ziekenhuis Maastricht
    • More information
    • POLAND
    • Warszawa
    • WARSAW
    • Biochemical diagnosis of infantile neuronal ceroid lipofuscinosis (palmitoyl-protein esterase enzyme assay)
    • Instytut Psychiatrii i Neurologii
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of neuronal ceroid lipofuscinosis (entire coding sequence of PPT1 gene / mutations R122W and R151X; entire coding sequence of TPP1 gene / mutations IVS5-1G>C, R208X; entire coding sequence of CLN3, CLN5, CLN6 and CLN8 genes)
    • Laboratorio de Genética Clínica, S.L.
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Biochemical diagnosis of inborn errors of metabolism (including Austrian newborn screening program for inborn errors of metabolism)
    • Allgemeines Krankenhaus der Stadt Wien
    • More information
    • AUSTRIA
    • STEIERMARK
    • GRAZ
    • Biochemical and molecular diagnosis of neuronal ceroid lipofuscinosis (PPT1, TPP1, CLN3, DNAJC5, CLN5, CLN6, MFSD8, CLN8, CTSD, GRN, ATP13A2, CTSF, KCTD7 and CLNK genes)
    • Medizinische Universität Graz
    • More information