Caption
: Accreditation
=
;
-
- FRANCE
- ILE-DE-FRANCE
- SAINT OUEN L'AUMONE
-
- SWITZERLAND
- Suisse Romande
- GENÈVE
- Ashkenazes carrier screening (ASHPLEX 1, ASHPLEX 2, ASHPLEX Gaucher)
- Centre Médical Universitaire - CMU
- More information
-
- GERMANY
- Nordrhein-Westfalen
- BOCHUM
- Molecular diagnosis of neurodegeneration with brain iron accumulation (PANK2, PLA2G6 genes)
- Ruhr-Universität Bochum
- More information
-
- GERMANY
- Nordrhein-Westfalen
- BOCHUM
- Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
- Ruhr-Universität Bochum
- More information
-
- GERMANY
- Nordrhein-Westfalen
- DORTMUND
- Molecular diagnosis of Neuroferritinopathy (FTL gene)
- Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
- More information
-
- Molecular diagnosis of aceruloplasminemia (CP gene)
- Labor Lademannbogen
- More information
-
- SWITZERLAND
- Suisse Alémanique
- ZÜRICH
- Ashkenazes carrier screening (ASHPLEX 1, ASHPLEX 2, ASHPLEX Gaucher)
- Genetica AG
- More information
-
- SWITZERLAND
- Suisse Alémanique
- ZÜRICH
- Molecular diagnosis of pantothenate kinase-associated neurodegeneration (PANK2 gene)
- Genetica AG
- More information
-
- GERMANY
- Rheinland-Pfalz
- INGELHEIM AM RHEIN
- 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
- Molecular diagnosis of Pantothenate Kinase Associated Neurodegeneration (PANK2 gene)
- Liverpool Women's NHS Foundation Trust
- More information
-
- UNITED KINGDOM
- Merseyside
- LIVERPOOL
- Molecular diagnosis of Neuroferritinopathy - Neurodegeneration with brain iron accumulation (FTL gene)
- Liverpool Women's NHS Foundation Trust
- More information
-
- UNITED KINGDOM
- West Midlands
- BIRMINGHAM
- Molecular diagnosis of Infantile neuroaxonal dystrophy - INAD (PLA2G6 gene)
- Birmingham Women's NHS Foundation Trust
- More information
-
- GERMANY
- Baden-Württemberg
- MANNHEIM
- Molecular diagnosis of neurodegeneration with brain iron accumulation (PANK2 gene)
- Zentrum für Humangenetik Mannheim
- More information
-
- BELGIUM
- HAINAUT
- GOSSELIES
- Molecular diagnosis of Pantothenate Kinase-Associated Neurodegeneration / Hallervorden-Spatz syndrome (PANK2 gene)
- Institut de Pathologie et de Génétique - Gosselies
- More information
-
- NETHERLANDS
- Gelderland
- NIJMEGEN
- Molecular diagnosis in case of Unexplained Movement Disorders (exome sequencing)
- UMC St Radboud - Universitair Medisch Centrum St Radboud
- More information
-
- NETHERLANDS
- Groningen
- GRONINGEN
- Molecular diagnosis of Pantothenate Kinase-Associated Neurodegeneration (PANK2 gene)
- UMCG - Universitair Medisch Centrum Groningen
- More information
-
- NETHERLANDS
- Groningen
- GRONINGEN
- Molecular diagnosis of Infantile Neuroaxonal Dystrophy (PLA2G6 gene)
- UMCG - Universitair Medisch Centrum Groningen
- More information
-
- UNITED KINGDOM
- Tyne & Wear
- NEWCASTLE UPON TYNE
- Molecular diagnosis of Neuroferritinopathy (Neurodegeneration with brain iron accumulation)
- International Centre for Life
- More information
-
- Molecular screening of frequent diseases in Ashkenazi populations: genotyping by arrayed primer extension (APEX)
- Asper Biotech Ltd.
- More information
-
- GERMANY
- Mecklenburg-Vorpommern
- ROSTOCK
- Biochemical and molecular diagnosis of fucosidosis (enzyme assay / FUCA1 gene)
- Institute of Molecular Diagnostics
- More information
-
- GERMANY
- Mecklenburg-Vorpommern
- ROSTOCK
- Molecular diagnosis of neurodegeneration with brain iron accumulation (FA2H- PANK2, PLA2G6 genes)
- Institute of Molecular Diagnostics
- More information
-
- GERMANY
- Mecklenburg-Vorpommern
- ROSTOCK
- Biochemical and molecular diagnosis of mucolipidosis type 2, 3, 4 (enzyme assay/ GNPTAB, MCOLN1 genes: sequencing)
- Institute of Molecular Diagnostics
- More information
-
- GERMANY
- Mecklenburg-Vorpommern
- ROSTOCK
- Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene: sequencing / MLPA)
- Institute of Molecular Diagnostics
- More information
-
- GERMANY
- Mecklenburg-Vorpommern
- ROSTOCK
- Molecular diagnosis of Dystonia-parkinsonism, Paisan-Ruiz type (PLA2G6 gene: sequencing / MLPA)
- Institute of Molecular Diagnostics
- More information
-
- Molecular and Biochemical diagnosis of Fucosidosis (FUCA1 , a-fucosidase analysis)
- Hadassah Ein Kerem - Hebrew University Medical Center
- More information
-
- Molecular and Biochemical diagnosis of Mucolipidosis IV (MCOLN1, Mucolipin I analysis)
- Hadassah Ein Kerem - Hebrew University Medical Center
- More information
-
- GERMANY
- Hessen
- FRANKFURT AM MAIN
- Molecular diagnosis of fucosidosis (FUCA1 gene)
- Zentrum für Humangenetik
- More information
-
- Molecular diagnosis of fucosidosis (FUCA1 gene)
- MVZ Fenner & Krasemann
- More information
-
- Biochemical diagnosis of fucosidosis
- Universitätsklinikum Hamburg-Eppendorf
- More information
-
- UNITED KINGDOM
- Greater Manchester
- MANCHESTER
- Biochemical diagnosis of Fucosidosis (Analyte: Alpha-Fucosidase)
- St Mary's Hospital
- More information
-
- UNITED KINGDOM
- Strathclyde
- GLASGOW
- Biochemical diagnosis of Fucosidosis (Analyte: Alpha-fucosidase)
- Royal Hospital for Sick Children
- More information
-
- UNITED KINGDOM
- Strathclyde
- GLASGOW
- Biochemical diagnosis of Oligosaccharidoses (Analyte: Oligosaccharides)
- Royal Hospital for Sick Children
- More information
-
- UNITED KINGDOM
- West Midlands
- BIRMINGHAM
- Biochemical diagnosis of Fucosidosis (Analyte: alpha-Fucosidase)
- Birmingham Children's Hospital
- More information
-
- UNITED KINGDOM
- Avon
- BRISTOL
- Biochemical diagnosis of Fucosidosis (Analyte: alpha-fucosidase)
- Bristol Royal Infirmary
- More information
-
- GERMANY
- Baden-Württemberg
- TÜBINGEN
- Molecular diagnosis of aceruloplasminemia (CP gene: sequencing)
- CeGaT GmbH
- More information
-
- GERMANY
- Baden-Württemberg
- TÜBINGEN
- Molecular diagnosis of neurodegeneration with brain iron accumulation (PLA2G6, PANK2 and FTL genes: sequencing)
- CeGaT GmbH
- More information
-
- GERMANY
- Baden-Württemberg
- TÜBINGEN
- Molecular diagnosis of Dystonia-parkinsonism, Paisan-Ruiz type (PLA2G6 gene: sequencing)
- CeGaT GmbH
- More information
-
- GERMANY
- Baden-Württemberg
- TÜBINGEN
- Molecular diagnosis of mucolipidosis type 2 , 3 and 4 (GNPTAB, GNPTG, MCOLN1 genes: sequencing)
- CeGaT GmbH
- More information
-
- GERMANY
- Baden-Württemberg
- TÜBINGEN
-
- 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
- Biochemical diagnosis of fucosidosis
- CHU Paris Centre - Hôpital Cochin
- More information
-
- FRANCE
- ILE-DE-FRANCE
- PARIS
- Molecular diagnosis of type 2 mucolipidosis (MCOLN1 gene)
- CHU Paris Centre - Hôpital Cochin
- More information
-
- Molecular diagnosis of aceruloplasminemia
- CHU de Rennes - Hôpital Pontchaillou
- More information
-
- Biochemical diagnosis of fucosidosis
- CHU de Lyon-GH Est - Hospices Civils de Lyon
- More information
-
- FRANCE
- NORD-PAS-DE-CALAIS
- LILLE
- Biochemical diagnosis of fucosidosis
- CHRU de Lille - Centre de biologie et pathologie
- 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
-
- Molecular diagnosis of neuroferritinopathy (FTL gene)
- Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
- More information
-
- Molecular diagnosis of neurodegeneration with brain iron accumulation (PANK2, PLA2G6 genes)
- Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
- More information
-
- Molecular diagnosis of Hallervorden-Spatz disease (PANK2 gene)
- Istituto CSS-Mendel
- More information
-
- Molecular diagnosis of pantothenate-kinase associated neurodegeneration (PANK2 gene)
- Laboratorio Genoma
- More information
-
- 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
-
- Molecular diagnosis of neuroferritinopathy (FTL gene): Sequencing of entire coding region
- Instituto de Biologia Molecular e Celular
- More information
-
- 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
-
- 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
-
- 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
-
- 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
-
- Molecular diagnosis of pantothenate kinase-associated neurodegeneration (PANK2 gene)
- Medizinische Universität Wien
- More information
-
- Molecular diagnosis of pantothenate kinase-associated neurodegeneration (PANK2 gene)
- Praxis für Humangenetik
- More information
-
- Molecular diagnosis of Neuroferritinopathy (FTL gene)
- Praxis für Humangenetik
- More information
-
- Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
- Praxis für Humangenetik
- 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
-
- Molecular diagnosis of neurodegeneration with brain iron accumulation (ATP13A2, C19ORF12, FA2H, FTL, PANK2, PLA2G6 genes)
- Technische Universität München
- More information
-
- Molecular diagnosis of Parkinson disease (ATP13A2, C19ORF12, PARK7, PINK1, PLA2G6 genes)
- Technische Universität München
- More information
-
- Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
- Technische Universität München
- More information
-
- 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
-
- 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
-
- 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
- BEER YAAKOV
- Molecular diagnosis of Mucolipidosis Type IV (MCOLN1, Mutation analysis, Carrier screening)
- Assaf Harofeh Medical Center
- More information
-
- Molecular diagnosis of Mucolipidosis Type IV (MCOLN1, Mutation analysis, Carrier screening, PGD)
- Hadassah Ein Kerem - Hebrew University Medical Center
- More information
-
- 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
-
- Molecular diagnosis of Mucolipidosis Type IV (MCOLN1, Mutation analysis, Carrier screening)
- Sheba Medical Center
- More information
-
- Molecular diagnosis of Mucolipidosis Type IV (MCOLN1, Mutation analysis, Carrier screening)
- Kaplan Medical Center
- More information
-
- GERMANY
- Mecklenburg-Vorpommern
- ROSTOCK
-
- 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
-
- Biochemical diagnosis of fucosidosis (Alpha-L-fucosidase enzyme assay)
- Instytut Psychiatrii i Neurologii - Institute of Psychiatry and Neurology
- 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
-
- 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
-
- Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene): analysis of the entire coding region
- CGMJM - Centro de Genética Médica Jacinto Magalhães
- More information
-
- Biochemical diagnosis of fucosidosis (fluorometric determination of alpha-fucosidase)
- IRCCS Ospedale Pediatrico Bambino Gesù
- More information
-
- Molecular diagnosis of neurodegeneration with brain iron accumulation (PANK2 gene: sequencing, MLPA)
- Gemeinschaftspraxis für Humangenetik
- 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
-
- 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
-
- Biochemical diagnosis of fucosidosis
- Fondazione IRCCS Istituto Neurologico "Carlo Besta"
- More information
-
- Biochemical diagnosis of fucosidosis
- IRCCS Istituto G. Gaslini - Ospedale Pediatrico
- More information
-
- Molecular diagnosis of mucolipidosis type 4 (MCOLN1 gene)
- IRCCS Istituto G. Gaslini - Ospedale Pediatrico
- More information
-
- Biochemical diagnosis of fucosidosis
- Labor für molekulare Genetik und metabolische Erkrankungen
- More information
-
- Biochemical diagnosis of fucosidosis
- Hospital Clínico de Barcelona (Edificio Helios III)
- More information
-
- Molecular diagnosis of Hallervorden-Spatz disease (CP, FTL, PANK2, PLA2G6 genes)
- CNR
- More information
-
- Molecular diagnosis of pantothenate-kinase-associated neurodegeneration (PANK2 gene)
- CNR
- More information
-
- Molecular diagnosis of neuroferrinopathies (FTL and FTH genes)
- CNR
- More information
-
- Biochemical diagnosis of fucosidosis
- IRCCS Ospedale Pediatrico Bambino Gesù
- More information
-
- Biochemcial diagnosis of mucolipidosis type 4
- IRCCS Ospedale Pediatrico Bambino Gesù
- More information
-
- Biochemical diagnosis of fucosidosis
- Ospedale Regionale per le Microcitemie
- More information
-
- Biochemical diagnosis of fucosidosis
- CGMJM - Centro de Genética Médica Jacinto Magalhães
- More information
-
- Molecular diagnosis of Neuroferritinopathy (FTL gene)
- Instituto de Ciências da Vida e da Saúde - Universidade do Minho
- More information
-
-
- 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
-
-
- Biochemical diagnosis of fucosidosis
- Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
- More information
-
- Biochemical diagnosis of fucosidosis
- Hospital Universitari Vall d'Hebron. Area Materno Infantil
- More information
-
- Biochemical diagnosis of fucosidosis
- U.M.F. Iuliu Hatieganu Cluj
- More information
-
- 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
- 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
-
- Biochemical diagnosis of fucosidosis
- Azienda Ospedaliera Universitaria Anna Meyer
- More information
-
- GERMANY
- Rheinland-Pfalz
- MAINZ
-
- GERMANY
- Baden-Württemberg
- HEIDELBERG
- Biochemical diagnosis of fucosidosis (enzyme activity assay, oligosaccharide TLC)
- Universitätsklinikum Heidelberg
- More information
-
- Molecular diagnosis of aceruloplasminemia (CP gene)
- Consorzio per la Genetica Molecolare Umana
- More information
-
- Molecular diagnosis of neuroferritinopathy (FTL gene)
- Consorzio per la Genetica Molecolare Umana
- More information
-
- GERMANY
- Niedersachsen
- GÖTTINGEN
- Biochemical diagnosis of fucosidosis (metabolite profile / enzyme assay)
- Universitätsmedizin Göttingen
- More information
-
- Molecular diagnosis of Mucolipidosis Type IV (MCOLN1, Mutation analysis, Carrier screening)
- The Bnai Zion Medical Center, Technion-Rappaport Faculty of Medicine
- 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
-
- Molecular diagnosis of Hallervorden-Spatz syndrome (PANK2 gene)
- Uniwersytecki Szpital Kliniczny
- 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
-
- 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
-
- Molecular diagnosis of neuroferritinopathy (entire coding sequence of FTL gene)
- LORGEN G.P.
- More information
-
- Biochemical diagnosis of fucosidosis
- Ospedali Riuniti "Umberto I - G.M. Lancisi - G. Salesi" - Presidio "G. Salesi"
- More information
-
- ITALY
- FRIULI VENEZIA GIULIA
- UDINE
- Biochemical diagnosis of fucosidosis
- Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
- More information
-
- Biochemical diagnosis of Fucosidosis
- Medizinische Universität Graz
- More information
-
- SPAIN
- Andalucía
- CAMPANILLAS
- Molecular diagnosis of neuroferritinopathy (FTL gene / sequencing)
- GenoClinics
- More information
