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Caption : Accreditation =Accreditation
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    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of neuronal ceroid lipofuscinosis (CLN1, CLN2 and CLN3 genes)
    • UKE - Universitätsklinikum Hamburg-Eppendorf
    • 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
    • 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
    • CANADA
    • Ontario
    • TORONTO
    • Accreditation
    • Molecular Diagnosis of CLN1-Related Neuronal Ceroid Lipofuscinosis (PPT1 targeted mutations and DNA sequencing)
    • 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
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • 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)
    • CeGaT GmbH
    • 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
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of CLN1 disease (PPT1 gene)
    • Medizinische Universität Wien
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of neuronal ceroid lipofuscinosis (PPT1, TPP1, CLN3 and CLN8 genes)
    • Hospital Clínic de Barcelona
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of neuronal ceroid lipofuscinosis (CLN5, CLN8, PPT1, TPP1, CTSD 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 and CLN8 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)
    • Hospital Clínic de Barcelona
    • 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
    • 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
    • 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 - Institute of Psychiatry and Neurology
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Biochemical diagnosis of Infantile Neuronal Ceroid Lipofuscinosis (Analyte: Palmitoyl-protein Thioesterase)
    • AMC - Academisch Medisch Centrum
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Biochemical diagnosis of Late Infantile Neuronal Ceroid Lipofuscinosis (Analyte: Tripeptidyl Peptidase 1)
    • AMC - Academisch Medisch Centrum
    • 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)
    • Medizinische Universität 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