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Caption : Accreditation =Accreditation
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    • FRANCE
    • ILE-DE-FRANCE
    • SAINT-OUEN-L'AUMÔNE
    • Accreditation
    • SWITZERLAND
    • Suisse Romande
    • GENÈVE
    • Accreditation
    • Ashkenazes carrier screening (ASHPLEX 1, ASHPLEX 2, ASHPLEX Gaucher)
    • Centre Médical Universitaire - CMU
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BOCHUM
    • Accreditation
    • Molecular diagnosis of neurodegeneration with brain iron accumulation (PANK2, PLA2G6 genes)
    • Ruhr-Universität Bochum
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BOCHUM
    • Accreditation
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
    • Ruhr-Universität Bochum
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • DORTMUND
    • Accreditation
    • Molecular diagnosis of Neuroferritinopathy (FTL gene)
    • Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of aceruloplasminemia (CP gene)
    • Labor Lademannbogen
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • ZÜRICH
    • Accreditation
    • Ashkenazes carrier screening (ASHPLEX 1, ASHPLEX 2, ASHPLEX Gaucher)
    • Genetica AG
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • ZÜRICH
    • Accreditation
    • Molecular diagnosis of pantothenate kinase-associated neurodegeneration (PANK2 gene)
    • Genetica AG
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • Accreditation
    • Molecular diagnosis of neurodegeneration with brain iron accumulation (PANK2, PLA2G6 genes: sequencing, MLPA)
    • Bioscientia Institut für Medizinische Diagnostik GmbH
    • More information
    • UNITED KINGDOM
    • Merseyside
    • LIVERPOOL
    • Accreditation
    • Molecular diagnosis of Pantothenate Kinase Associated Neurodegeneration (PANK2 gene)
    • Liverpool Women's NHS Foundation Trust
    • More information
    • UNITED KINGDOM
    • Merseyside
    • LIVERPOOL
    • Accreditation
    • Molecular diagnosis of Neuroferritinopathy - Neurodegeneration with brain iron accumulation (FTL gene)
    • Liverpool Women's NHS Foundation Trust
    • More information
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • Accreditation
    • Molecular diagnosis of Infantile neuroaxonal dystrophy - INAD (PLA2G6 gene)
    • Birmingham Women's NHS Foundation Trust
    • More information
    • GERMANY
    • Baden-Württemberg
    • MANNHEIM
    • Accreditation
    • Molecular diagnosis of neurodegeneration with brain iron accumulation (PANK2 gene)
    • Zentrum für Humangenetik Mannheim
    • More information
    • BELGIUM
    • HAINAUT
    • GOSSELIES
    • Accreditation
    • Molecular diagnosis of Pantothenate Kinase-Associated Neurodegeneration / Hallervorden-Spatz syndrome (PANK2 gene)
    • Institut de Pathologie et de Génétique - Gosselies
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis in case of Unexplained Movement Disorders (exome sequencing)
    • Radboudumc - Radboud universitair medisch centrum
    • More information
    • NETHERLANDS
    • Groningen
    • GRONINGEN
    • Accreditation
    • Molecular diagnosis of Pantothenate Kinase-Associated Neurodegeneration (PANK2 gene)
    • UMCG - Universitair Medisch Centrum Groningen
    • More information
    • NETHERLANDS
    • Groningen
    • GRONINGEN
    • Accreditation
    • Molecular diagnosis of Infantile Neuroaxonal Dystrophy (PLA2G6 gene)
    • UMCG - Universitair Medisch Centrum Groningen
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of fucosidosis (FUCA1 gene)
    • Praxis für Humangenetik Freiburg
    • More information
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • Accreditation
    • Molecular diagnosis of Neuroferritinopathy (Neurodegeneration with brain iron accumulation)
    • International Centre for Life
    • More information
    • ESTONIA
    • Tartu
    • TARTU
    • Accreditation
    • Molecular screening of frequent diseases in Ashkenazi Jewish populations (APEX: ABCC8, AGL, ASPA, BCKDHB, BLM, CFTR, CLRN1, DLD, F11, FANCC, G6PC, GBA, GJB2, HEXA, IKBKAP, LDLR, MCOLN1, MEFV, NEB, PCDH15, SERPINA1, SMPD1, TMEM216 and TOR1A genes)
    • Asper Biotech Ltd.
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Biochemical and molecular diagnosis of fucosidosis (enzyme assay / FUCA1 gene)
    • Centogene AG
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of neurodegeneration with brain iron accumulation (FA2H- PANK2, PLA2G6 genes)
    • Centogene AG
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Biochemical and molecular diagnosis of mucolipidosis type 2, 3, 4 (enzyme assay/ GNPTAB, MCOLN1 genes: sequencing)
    • Centogene AG
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene: sequencing / MLPA)
    • Centogene AG
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of Dystonia-parkinsonism, Paisan-Ruiz type (PLA2G6 gene: sequencing / MLPA)
    • Centogene AG
    • More information
    • GERMANY
    • Hessen
    • FRANKFURT AM MAIN
    • Accreditation
    • Molecular diagnosis of fucosidosis (FUCA1 gene)
    • Zentrum für Humangenetik
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of fucosidosis (FUCA1 gene)
    • MVZ Fenner & Krasemann
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Biochemical diagnosis of fucosidosis
    • UKE - Universitätsklinikum Hamburg-Eppendorf
    • More information
    • UNITED KINGDOM
    • Greater Manchester
    • MANCHESTER
    • Accreditation
    • Biochemical diagnosis of Fucosidosis (Analyte: Alpha-Fucosidase)
    • St Mary's Hospital
    • More information
    • UNITED KINGDOM
    • Strathclyde
    • GLASGOW
    • Accreditation
    • Biochemical diagnosis of Fucosidosis (Analyte: Alpha-fucosidase)
    • Royal Hospital for Sick Children
    • More information
    • UNITED KINGDOM
    • Strathclyde
    • GLASGOW
    • Accreditation
    • Biochemical diagnosis of Oligosaccharidoses (Analyte: Oligosaccharides)
    • Royal Hospital for Sick Children
    • More information
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • Accreditation
    • Biochemical diagnosis of Fucosidosis (Analyte: alpha-Fucosidase)
    • Birmingham Children's Hospital
    • More information
    • UNITED KINGDOM
    • Avon
    • BRISTOL
    • Accreditation
    • Biochemical diagnosis of Fucosidosis (Analyte: alpha-fucosidase)
    • Bristol Royal Infirmary
    • More information
    • ISRAEL
    • ISRAEL
    • JERUSALEM
    • Accreditation
    • Molecular and Biochemical diagnosis of Fucosidosis (FUCA1 , a-fucosidase analysis)
    • Hadassah Ein Kerem - Hebrew University Medical Center
    • More information
    • ISRAEL
    • ISRAEL
    • JERUSALEM
    • Accreditation
    • Molecular and Biochemical diagnosis of Mucolipidosis IV (MCOLN1, Mucolipin I analysis)
    • Hadassah Ein Kerem - Hebrew University Medical Center
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of aceruloplasminemia (CP gene: sequencing)
    • CeGaT GmbH
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of neurodegeneration with brain iron accumulation (C19ORF12, PLA2G6, PANK2, FTL genes: sequencing)
    • CeGaT GmbH
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of Dystonia-parkinsonism, Paisan-Ruiz type (PLA2G6 gene: sequencing)
    • CeGaT GmbH
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of mucolipidosis type 2 , 3 and 4 (GNPTAB, GNPTG, MCOLN1 genes: sequencing)
    • CeGaT GmbH
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of beta-propeller protein-associated neurodegeneration (WDR45 gene)
    • CeGaT GmbH
    • More information
    • FRANCE
    • AQUITAINE
    • BORDEAUX
    • Molecular diagnosis of neuroferritinopathy (FTL gene)
    • CHU de Bordeaux-GH Pellegrin
    • More information
    • FRANCE
    • AQUITAINE
    • BORDEAUX
    • Molecular diagnosis of pantothenate kinase associated neurodegeneration (PANK2 gene)
    • CHU de Bordeaux-GH Pellegrin
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of fucosidosis (FUCA1 gene)
    • CHU Paris Centre - Hôpital Cochin
    • More information
    • FRANCE
    • BRETAGNE
    • RENNES
    • Molecular diagnosis of aceruloplasminemia
    • CHU de Rennes - Hôpital Pontchaillou
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Biochemical diagnosis of fucosidosis
    • CHU de Lyon-GH Est - Hospices Civils de Lyon
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of neurodegeneration with brain iron accumulation due to C19orf12 mutation (C19ORF12 gene)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of neuroferritinopathy (FTL gene)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • More information
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE
    • Biochemical diagnosis of fucosidosis
    • CHRU de Lille - Centre de biologie pathologie génétique
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of aceruloplasminemia (genotyping, complete mutation screening of the 20 exons and promoteur of CP gene)
    • CHU Paris-GH St Louis Lariboisière F.Widal - Hôpital Lariboisière
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Molecular diagnosis of neuroferritinopathy (FTL gene)
    • Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Molecular diagnosis of neurodegeneration with brain iron accumulation (PANK2, PLA2G6 genes)
    • Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of Hallervorden-Spatz disease (PANK2 gene)
    • Istituto CSS-Mendel
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of pantothenate-kinase associated neurodegeneration (PANK2 gene)
    • Laboratorio Genoma
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of mucolipidosis type 4 (MCOLN1 gene)
    • Laboratorio Genoma
    • More information
    • SPAIN
    • Galicia
    • SANTIAGO DE COMPOSTELA
    • Molecular diagnosis of pantothenate kinase-associated neurodegeneration (PANK2 gene)
    • CHUS - Complejo Hospitalario Universitario de Santiago
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of neuroferritinopathy (FTL gene): Sequencing of entire coding region
    • Instituto de Biologia Molecular e Celular
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of pantothenate-kinase-associated neurodegeneration, NBIA1, e.g. Hallervorden-spatz syndrome (PANK2 gene): sequencing of entire coding region and delection/duplication analysis by MLPA
    • Instituto de Biologia Molecular e Celular
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of infantile neuroaxonal dystrophy, NBIA2, e.g. Seitelberger disease (PLA2G6 gene): sequencing of entire coding region and delection/duplication analysis by MLPA
    • Instituto de Biologia Molecular e Celular
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of infantile neuroaxonal dystrophy, NBIA2B, e.g. Karak syndrome (PLA2G6 gene): sequencing of entire coding region and delection/duplication analysis by MLPA
    • Instituto de Biologia Molecular e Celular
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of neuroferritinopathy disease, NBIA3, (FTL gene): sequencing of the entire coding region
    • Instituto de Biologia Molecular e Celular
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of neuroferritinopathy (FTL gene)
    • Sistemas Genómicos S.L.
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of pantothenate-kinase-associated neurodegeneration (PANK2 gene)
    • Sistemas Genómicos S.L.
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
    • Sistemas Genómicos S.L.
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of Kufor-Rakeb syndrome (ATP13A2 gene)
    • Sistemas Genómicos S.L.
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of dystonia-parkinsonism, Paisan-Ruiz type (PLA2G6 gene)
    • Sistemas Genómicos S.L.
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • Molecular diagnosis of neurodegeneration with brain iron accumulation (PANK2 gene)
    • Praxis Dres. Gencik
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • Molecular diagnosis of Neuroferritinopathy (FTL gene)
    • Praxis Dres. Gencik
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
    • Praxis Dres. Gencik
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of pantothenate kinase-associated neurodegeneration (PANK2 gene)
    • Medizinische Universität Wien
    • More information
    • GERMANY
    • Sachsen
    • WEIßWASSER
    • Molecular diagnosis of aceruloplasminemia (CP gene)
    • Praxis Dr. Mato Nagel
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of pantothenate kinase-associated neurodegeneration (PANK2 gene)
    • Praxis für Humangenetik
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of Neuroferritinopathy (FTL gene)
    • Praxis für Humangenetik
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
    • Praxis für Humangenetik
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of neurodegeneration with brain iron accumulation (PLA2G6 gene: targeted mutation analysis and deletion/duplication analysis by MLPA)
    • CGC Genetics / Centro de Genética Clínica
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of Hereditary hyperferritinemia with/without congenital cataracts (FTL gene: sequencing of the entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • More information
    • SPAIN
    • Comunidad Valenciana
    • SANT JOAN D'ALACANT
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene / sequencing)
    • Centro Inmunológico de Alicante (CIALAB)
    • More information
    • SPAIN
    • Comunidad Valenciana
    • SANT JOAN D'ALACANT
    • Molecular diagnosis of pantothenate-kinase-associated neurodegeneration (PANK2 gene / sequencing, MLPA)
    • Centro Inmunológico de Alicante (CIALAB)
    • More information
    • SPAIN
    • Comunidad Valenciana
    • SANT JOAN D'ALACANT
    • Molecular diagnosis of neuroferritinopathy (FTL gene / sequencing)
    • Centro Inmunológico de Alicante (CIALAB)
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Molecular diagnosis of Infantile neuroaxonal dystrophy (PLA2G6 gene)
    • Universitair Ziekenhuis Brussel - UZBrussel
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Biochemical diagnosis of Fucosidosis (analyte: alpha-L-fucosidase)
    • Universitair Ziekenhuis Brussel - UZBrussel
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of neurodegeneration with brain iron accumulation (ATP13A2, C19ORF12, FA2H, FTL, PANK2, PLA2G6 genes)
    • Technische Universität München
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of Parkinson disease (ATP13A2, C19ORF12, PARK7, PINK1, PLA2G6 genes)
    • Technische Universität München
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
    • Technische Universität München
    • More information
    • NORWAY
    • Østlandet
    • OSLO
    • Molecular diagnosis of Hallervorden-Spatz disease (PANK2 gene)
    • Oslo University Hospital, Ullevaal
    • More information
    • FRANCE
    • MIDI-PYRENEES
    • TOULOUSE
    • Biochemical diagnosis of fucosidosis
    • CHU de Toulouse - Hôpital Purpan
    • More information
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • Biochemical diagnosis of fucosidosis (alpha-fucosidase activity assay)
    • Karolinska University Hospital - Solna
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BONN
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
    • Institut für Klinische Genetik Bonn
    • More information
    • ISRAEL
    • ISRAEL
    • JERUSALEM
    • Molecular diagnosis of Mucolipidosis Type IV (MCOLN1, Mutation analysis, Carrier screening, PGD)
    • Hadassah Ein Kerem - Hebrew University Medical Center
    • More information
    • ISRAEL
    • ISRAEL
    • RAMAT-GAN
    • Molecular diagnosis of Mucolipidosis Type IV (MCOLN1, Mutation analysis, Carrier screening)
    • Sheba Medical Center
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Molecular diagnosis of fucosidosis (FUCA1 gene)
    • Diagenom GmbH
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
    • Diagenom GmbH
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Molecular diagnosis of neurodegeneration with brain iron accumulation (PANK2 gene)
    • Diagenom GmbH
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of neuroferritinopathy (FTL gene)
    • Genetaq
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of pantothenate-kinase-associated neurodegeneration (PANK2 gene - entire coding sequence)
    • IMEGEN - Instituto de Medicina Genómica
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of aceruloplasminemia (CP gene - entire coding sequence)
    • IMEGEN - Instituto de Medicina Genómica
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene - entire coding sequence)
    • IMEGEN - Instituto de Medicina Genómica
    • More information
    • SPAIN
    • Cataluña
    • BADALONA
    • Molecular diagnosis of aceruloplasminemia (CP gene). Sanger Sequencing of the gene (exons and exon-intron boundaries) and regulatory regions.
    • IMPPC - Instituto de Medicina Predictiva y Personalizada del Cáncer
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene): analysis of the entire coding region
    • CGMJM - Centro de Genética Médica Jacinto Magalhães
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Biochemical diagnosis of fucosidosis (fluorometric determination of alpha-fucosidase)
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Molecular diagnosis of neurodegeneration with brain iron accumulation (PANK2 gene: sequencing, MLPA)
    • Gemeinschaftspraxis für Humangenetik
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Molecular diagnosis of neurodegeneration with brain iron accumulation (PANK2, PLA2G6 genes: sequencing, MLPA)
    • Gemeinschaftspraxis für Humangenetik
    • More information
    • ITALY
    • FRIULI VENEZIA GIULIA
    • UDINE
    • Biochemical diagnosis of fucosidosis (assessment of alpha fucosidase activity)
    • Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
    • More information
    • UNITED KINGDOM
    • Greater Manchester
    • MANCHESTER
    • Molecular diagnosis of Mucolipidosis IV (MCOLN1 mut: 511-6944del and 5534A>G)
    • Gen-Probe Life Sciences Ltd.
    • More information
    • SPAIN
    • La Rioja
    • LOGROÑO
    • Molecular diagnosis of pantothenate-kinase-associated neurodegeneration (PANK2 gene)
    • CIBIR - Centro de Investigación Biomédica de La Rioja
    • More information
    • FRANCE
    • HAUTE-NORMANDIE
    • ROUEN
    • Biochemical diagnosis of fucosidosis
    • CHU de Rouen - Hôpital Charles Nicolle
    • More information
    • FRANCE
    • RHONE-ALPES
    • GRENOBLE
    • Biochemical diagnosis of fucosidosis (alpha-L-fucosidase activity)
    • CHU de Grenoble site Nord - Institut de biologie et de pathologie
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Biochemical diagnosis of fucosidosis
    • Fondazione IRCCS Istituto Neurologico "Carlo Besta"
    • More information
    • ITALY
    • LIGURIA
    • GENOVA
    • Biochemical diagnosis of fucosidosis
    • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • More information
    • ITALY
    • LIGURIA
    • GENOVA
    • Molecular diagnosis of mucolipidosis type 4 (MCOLN1 gene)
    • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Biochemical diagnosis of fucosidosis
    • Labor für molekulare Genetik und metabolische Erkrankungen
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of fucosidosis
    • Hospital Clínic de Barcelona
    • More information
    • ITALY
    • CALABRIA
    • MANGONE
    • Molecular diagnosis of Hallervorden-Spatz disease (CP, FTL, PANK2, PLA2G6 genes)
    • CNR
    • More information
    • ITALY
    • CALABRIA
    • MANGONE
    • Molecular diagnosis of pantothenate-kinase-associated neurodegeneration (PANK2 gene)
    • CNR
    • More information
    • ITALY
    • CALABRIA
    • MANGONE
    • Molecular diagnosis of neuroferrinopathies (FTL and FTH genes)
    • CNR
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Biochemical diagnosis of fucosidosis
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Biochemcial diagnosis of mucolipidosis type 4
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • More information
    • ITALY
    • SARDEGNA
    • CAGLIARI
    • Biochemical diagnosis of fucosidosis
    • Ospedale Regionale per le Microcitemie
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Biochemical diagnosis of fucosidosis
    • CGMJM - Centro de Genética Médica Jacinto Magalhães
    • More information
    • PORTUGAL
    • NORTE
    • BRAGA
    • Molecular diagnosis of Neuroferritinopathy (FTL gene)
    • Instituto de Ciências da Vida e da Saúde - Universidade do Minho
    • More information
    • FINLAND
    • Finland
    • KUOPIO
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
    • CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of dystonia-parkinsonism, Paisan-Ruiz type (PLA2G6 gene)
    • CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of neurodegeneration with brain iron accumulation due to C19orf12 mutation (C19ORF12 gene)
    • CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • ITALY
    • TOSCANA
    • SIENA
    • Biochemical diagnosis of fucosidosis
    • Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Biochemical diagnosis of fucosidosis (enzyme assay)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of type 2 mucoplipidosis (complete MCOLN1 gene sequencing)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of fucosidosis
    • Hospital Universitari Vall d'Hebron. Area Materno Infantil
    • More information
    • ROMANIA
    • CLUJ
    • CLUJ
    • Biochemical diagnosis of fucosidosis
    • U.M.F. Iuliu Hatieganu Cluj
    • More information
    • GREECE
    • ATTIKI
    • ATHENS
    • Biochemical diagnosis of fucosidosis (alpha-fucosidase assay)
    • Institute of Child Health
    • More information
    • DENMARK
    • Hovedstaden
    • COPENHAGEN
    • Biochemical diagnosis of fucosidosis (Analyte: Alpha-fucosidase)
    • Rigshospitalet
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Biochemical diagnosis of Fucosidosis (Analyte: alpha-L-Fucosidase)
    • Radboudumc - Radboud universitair medisch centrum
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Biochemical diagnosis of Fucosidosis (Analyte: alpha-Fucosidase)
    • Erasmus MC, Faculteitsgebouw
    • More information
    • BULGARIA
    •  South-West region
    • SOFIA
    • Biochemical diagnosis of oligosaccharidoses using TLC analysis
    • University hospital of Obstetrics and Gynecology
    • More information
    • ITALY
    • TOSCANA
    • FIRENZE
    • Biochemical diagnosis of fucosidosis
    • Azienda Ospedaliera Universitaria Anna Meyer
    • More information
    • CZECH REPUBLIC
    • Capital City Prague
    • PRAHA
    • Biochemical diagnosis of Oligosaccharidoses (Analyte: Oligosaccharides)
    • Charles University - First faculty of medicine
    • More information
    • CZECH REPUBLIC
    • Capital City Prague
    • PRAHA
    • Molecular diagnosis of neurodegeneration with brain iron accumulation (PANK2 gene)
    • Motol university hospital - 2nd Medical School Charles University Prague
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • MAINZ
    • Biochemical diagnosis of fucosidosis
    • Universitätsmedizin Mainz
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Biochemical diagnosis of fucosidosis (enzyme activity assay, oligosaccharide TLC)
    • Universitätsklinikum Heidelberg
    • More information
    • ITALY
    • LOMBARDIA
    • MONZA
    • Molecular diagnosis of aceruloplasminemia (CP gene)
    • Consorzio per la Genetica Molecolare Umana
    • More information
    • ITALY
    • LOMBARDIA
    • MONZA
    • Molecular diagnosis of neuroferritinopathy (FTL gene)
    • Consorzio per la Genetica Molecolare Umana
    • More information
    • FRANCE
    • LORRAINE
    • VANDOEUVRE-LES-NANCY
    • Biochemical diagnostic of fucosidosis (chromatography of oligosaccharides and enzymatic activity of alpha-L-fucosidase)
    • CHU de Nancy
    • More information
    • GERMANY
    • Niedersachsen
    • GÖTTINGEN
    • Biochemical diagnosis of fucosidosis (metabolite profile / enzyme assay)
    • Universitätsmedizin Göttingen
    • More information
    • ISRAEL
    • ISRAEL
    • BEER YAAKOV
    • Molecular diagnosis of Mucolipidosis Type IV (MCOLN1, Mutation analysis, Carrier screening)
    • Assaf Harofeh Medical Center
    • More information
    • ISRAEL
    • ISRAEL
    • HAIFA
    • Molecular diagnosis of Mucolipidosis type 4 (ML4) (MCOLN1, Mutation analysis, Carrier screening)
    • Carmel Medical Center
    • More information
    • ISRAEL
    • ISRAEL
    • PETAH TIKVA
    • Molecular diagnosis of Mucolipidosis Type IV (MCOLN1, Mutation analysis, Carrier screening)
    • Rabin Medical Center - Beilinson Hospital
    • More information
    • ISRAEL
    • ISRAEL
    • HAIFA
    • Molecular diagnosis of Mucolipidosis Type IV (MCOLN1, Mutation analysis, Carrier screening)
    • The Bnai Zion Medical Center, Technion-Rappaport Faculty of Medicine
    • More information
    • ISRAEL
    • ISRAEL
    • REHOVOT
    • Molecular diagnosis of Mucolipidosis Type IV (MCOLN1, Mutation analysis, Carrier screening)
    • Kaplan Medical Center
    • More information
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Biochemical diagnosis of Fucosidosis (alpha-fucosidase)
    • Ghent University Hospital - UZGent
    • More information
    • BELGIUM
    • VLAAMS BRABANT
    • LEUVEN
    • Biochemical diagnosis of Fucosidosis (alpha-fucosidase)
    • University Hospitals Leuven - Gasthuisberg
    • More information
    • UNITED KINGDOM
    • County Antrim
    • BELFAST
    • Biochemical diagnosis of Fucosidosis (Analyte: alpha-Fucosidase)
    • Royal Group of Hospitals Belfast
    • More information
    • UNITED KINGDOM
    • Lothian
    • EDINBURGH
    • Biochemical diagnosis of Fucosidosis (Analyte: alpha-Fucosidase)
    • Royal Hospital for Sick Children
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Biochemical diagnosis of Fucosidosis (alpha-Fucosidase)
    • Guy's Hospital
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Biochemical diagnosis of Fucosidosis (alpha-Fucosidase)
    • Great Ormond Street Hospital NHS Foundation Trust
    • More information
    • SPAIN
    • Cataluña
    • ESPLUGUES DE LLOBREGAT
    • Biochemical diagnosis of fucosidosis (analyte: Urine oligosaccharides)
    • Hospital Universitari Sant Joan de Déu
    • More information
    • POLAND
    • Lodz
    • LODZ
    • Molecular diagnosis of Hallervorden-Spatz syndrome (PANK2 gene)
    • Uniwersytecki Szpital Kliniczny
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Molecular diagnosis of aceruloplasminemia (CP gene)
    • King's College Hospital
    • More information
    • POLAND
    • Warszawa
    • WARSAW
    • Biochemical diagnosis of fucosidosis (Alpha-L-fucosidase enzyme assay)
    • Instytut Psychiatrii i Neurologii - Institute of Psychiatry and Neurology
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Biochemical diagnosis of Fucosidosis (Analyte: alpha-L-fucosidase)
    • AMC - Academisch Medisch Centrum
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of aceruloplasminemia (CP gene: entire coding sequence)
    • Laboratorio de Genética Clínica, S.L.
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of infantile neuroaxonal dystrophy (entire coding sequence of PLA2G6 gene)
    • Laboratorio de Genética Clínica, S.L.
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of pantothenate-kinase-associated neurodegeneration (entire coding sequence of PANK2 gene / deletions-duplications by MLPA analysis)
    • Laboratorio de Genética Clínica, S.L.
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular and biochemical diagnosis of oligosaccharidosis (alfa-mannosidosis, beta-mannosidosis, fucosidosis, alpha-N-acetylgalactosaminidase deficiencies) (FUCA1, MAN2B1, MANBA, NAGA genes)
    • Instituto de Biologia Molecular e Celular
    • More information
    • SPAIN
    • Andalucía
    • ARMILLA
    • Molecular diagnosis of neuroferritinopathy (entire coding sequence of FTL gene)
    • Lorgen G.P.
    • More information
    • ITALY
    • MARCHE
    • ANCONA
    • Biochemical diagnosis of fucosidosis (alpha fucosidase assay in leukocytes)
    • Ospedali Riuniti "Umberto I - G.M. Lancisi - G. Salesi" - Presidio "G. Salesi"
    • More information
    • AUSTRIA
    • STEIERMARK
    • GRAZ
    • Biochemical diagnosis of Fucosidosis (analysis of fucosidase)
    • Medizinische Universität Graz
    • More information
    • SPAIN
    • Andalucía
    • CAMPANILLAS
    • Molecular diagnosis of neuroferritinopathy (FTL gene / sequencing)
    • GenoClinics
    • More information
    • SPAIN
    • Andalucía
    • CAMPANILLAS
    • Molecular diagnosis of pantothenate-kinase-associated neurodegeneration (PANK2 gene / gene sequencing and MLPA)
    • GenoClinics
    • More information