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135 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
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    • Accreditation
    • Molecular diagnosis of Gaucher disease (GBA gene: sequencing)
    • Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • DORTMUND
    • Accreditation
    • Ashkenazes carrier screening (ASHPLEX 1, ASHPLEX 2, ASHPLEX Gaucher)
    • Hôpitaux Universitaires de Genève HUG
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SWITZERLAND
    • Suisse Romande
    • GENÈVE
    • Accreditation
    • Molecular diagnosis of Gaucher disease (GBA gene)
    • Great Ormond Street Hospital for Children, York House
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Accreditation
    • Molecular diagnosis of Gaucher Disease (GBA gene)
    • AMC - Academisch Medisch Centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Biochemical diagnosis of Gaucher disease
    • CHU de Toulouse - Hôpital Purpan
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • MIDI-PYRENEES
    • TOULOUSE
    • Accreditation
    • Biochemical and molecular diagnosis of Gaucher disease (enzyme assay/ CHIT1, GBA genes: sequencing)
    • Centogene AG
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of atypical Gaucher disease (PSAP gene)
    • Centogene AG
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • 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.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • Technical procedure(s) : PCR based techniques
    • More information
    • ESTONIA
    • Tartu
    • TARTU
    • Accreditation
    • Molecular diagnosis of Saposin (A,B,C,D)-deficiency (PSAP gene)
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of Gaucher disease (GBA gene)
    • Diagenom GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of Saposin (A,B,C,D)-deficiency (PSAP gene)
    • Diagenom GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of Gaucher disease (GBA gene)
    • Labor Lademannbogen
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Ashkenazes carrier screening (ASHPLEX 1, ASHPLEX 2, ASHPLEX Gaucher)
    • Genetica AG
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • ZÜRICH
    • Accreditation
    • Molecular diagnosis of Gaucher disease (GBA gene)
    • Genetica AG
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • ZÜRICH
    • Accreditation
    • Molecular diagnosis of Gaucher disease (Gene: GBA, mutations/sequencing)
    • St Mary's Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • Greater Manchester
    • MANCHESTER
    • 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)
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of Gaucher disease (GBA, PSAP genes)
    • MVZ Fenner & Krasemann
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular Diagnosis of Gaucher Disease (by GBA Targeted Mutation Analysis)
    • The Hospital for Sick Children and University of Toronto
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • Technical procedure(s) : PCR based techniques
    • More information
    • CANADA
    • Ontario
    • TORONTO
    • Accreditation
    • Molecular diagnosis of Gaucher disease (GBA gene)
    • Labor PD Dr. Volkmann und Kollegen
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • KARLSRUHE
    • Accreditation
    • Molecular diagnosis of Gaucher Disease (GBA gene)
    • Erasmus MC, Faculteitsgebouw
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Accreditation
    • Molecular diagnosis of Gaucher disease (GBA, PSAP genes)
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of Gaucher disease (GBA gene)
    • Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • MARTINSRIED
    • Accreditation
    • Biochemical diagnosis of Gaucher disease (Glucosylceramidase activity assay)
    • Sahlgrenska university hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SWEDEN
    • Västra Götalandsregionen
    • GÖTEBORG
    • Accreditation
    • Biochemical monitoring of Gaucher disease (Analyte: Chitotriosidase, CCL18 and glucosylceramide)
    • Sahlgrenska university hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SWEDEN
    • Västra Götalandsregionen
    • GÖTEBORG
    • 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) : Sanger sequencing
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of Gaucher disease (GBA gene)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Accreditation
    • Molecular diagnosis of Leukodystrophy and Leukencephalopathy (ABCD1, ADAR, AIMP1, ARSA, ASPA, CLCN2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FOLR1, GALC, GFAP, GJC2, HEPACAM, HSPD1, L2HGDH, MLC1, NOTCH3, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SOX10, SUMF1, TREX1, TUBB4A genes: Brain Development Disorders Panel)
    • CeGaT GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of Gaucher disease (GBA gene)
    • 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
    • More information
    • GERMANY
    • Baden-Württemberg
    • MANNHEIM
    • Accreditation
    • Biochemical diagnosis of Gaucher disease
    • UKE - Universitätsklinikum Hamburg-Eppendorf
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Biochemical diagnosis of Gaucher disease types I, II & III (Analyte: Beta-glucocerebrosidase)
    • Royal Hospital for Sick Children
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Strathclyde
    • GLASGOW
    • Accreditation
    • Biochemical diagnosis of Gaucher disease (Analyte: Beta-Glucocerebrosidase and Chitotriosidase)
    • St Mary's Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • 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
    • More information
    • UNITED KINGDOM
    • Greater Manchester
    • MANCHESTER
    • Accreditation
    • Molecular and Biochemical diagnosis of Gaucher (GBA, b-Glucosidase analysis)
    • Hadassah Ein Kerem - Hebrew University Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ISRAEL
    • ISRAEL
    • JERUSALEM
    • Accreditation
    • Biochemical diagnosis of Gaucher Disease (Analyte: beta-D-glucosidase, Chitotriosidase, Glucosylceramide and Glucosylsphingosine)
    • AMC - Academisch Medisch Centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Biochemical of Gaucher disease (Analyte: beta-Glucocerebrosidase)
    • Birmingham Children's Hospital NHS Foundation Trust
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • Accreditation
    • Biochemical monitoring of Gaucher disease (Analyte: Chitotriosidase)
    • Birmingham Children's Hospital NHS Foundation Trust
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • Accreditation
    • Biochemical diagnosis of Gaucher disease and monitoring of enzyme replacement therapy (Analyte: beta-glucocerebrosidase & chitotriosidase)
    • Bristol Royal Infirmary
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Avon
    • BRISTOL
    • Accreditation
    • Biochemical monitoring of Gaucher disease (Analyte: Chitotriosidase)
    • Addenbrooke's Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • Accreditation
    • Molecular diagnosis of Gaucher disease (GBA gene)
    • Ruhr-Universität Bochum
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BAD OEYNHAUSEN
    • Accreditation
    • Biochemical diagnosis of Gaucher Disease (Analyte: Glucocerebrosidase)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular Diagnosis of Lysosomal Storage Disorder - NGS Panel (51 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)
    • More information
    • CANADA
    • Ontario
    • LONDON
    • Biochemical diagnosis of Gaucher disease (Glucocerebrosidase activity assay)
    • CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Biochemical and molecular diagnosis of Gaucher disease (GBAgene)
    • CHU de Lyon HCL - GH Est
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Biochemical diagnosis of Gaucher disease
    • Ospedale Regionale per le Microcitemie
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • SARDEGNA
    • CAGLIARI
    • Molecular diagnosis of Gaucher disease (GBA gene)
    • Laboratorio Genoma
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of Gaucher disease (GBA gene, chitotriosidase genotyping)
    • UKE - Universitätsklinikum Hamburg-Eppendorf
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Molecular diagnosis of Gaucher disease. GBA gene.
    • Genetaq
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of Gaucher disease (GBA gene: Target mutation analysis - panel of mutation (N370S, R496H, V394L, R463H))
    • CGC Genetics / Centro de Genética Clínica
    • Purpose(s) : Post-natal diagnosis, Somatic genetics
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Biochemical diagnosis of Gaucher disease (Beta-glucosidase activity assay)
    • Karolinska University Hospital - Solna
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • Biochemical diagnosis of Gaucher disease
    • Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • VENETO
    • PADOVA
    • Molecular diagnosis of Gaucher disease (GBA gene)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of Gaucher disease (GBA gene most frequent mutations)
    • NZOZ GENOMED
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • POLAND
    • Warszawa
    • WARSAW
    • Preimplantation genetic diagnosis of Gaucher disease (GBA gene)
    • Reprogenetics Spain S.A.
    • Purpose(s) : Pre-implantation diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of Gaucher disease (GBA gene)
    • Fundación Jiménez Díaz
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • MADRID
    • Biochemical diagnosis of Gaucher disease (fluorometric determination of beta-glucosidase)
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Biochemical and molecular diagnosis of Gaucher disease (assessment of acid beta-glucosidase activity and GBA, PSAP genes)
    • Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • FRIULI VENEZIA GIULIA
    • UDINE
    • Preimplantation genetic diagnosis of Gaucher disease (GBA gene)
    • CME Barcelona
    • Purpose(s) : Pre-implantation diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular Diagnosis of Gaucher Disease (GBA gene)
    • Universitair Ziekenhuis Brussel - UZBrussel
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Molecular diagnosis of Gaucher disease (GBA gene most frequent mutations)
    • MEDGEN
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • POLAND
    • Warszawa
    • WARSAW
    • Molecular diagnosis of atypical Gaucher disease due to saposin C deficiency (PSAP gene)
    • CHU de Lyon HCL - GH Est
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • Technical procedure(s) : Sanger sequencing
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Molecular diagnosis of Gaucher disease type 1 (GBA gene: N370S mutation)
    • Riga Stradins University
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • LATVIA
    • LATVIA
    • RIGA
    • Molecular diagnosis of Gaucher disease (GBA gene / gene sequencing and N370S, L444P, 84GG, IVS2+1)
    • Centro Inmunológico de Alicante (CIALAB)
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • SANT JOAN D'ALACANT
    • Biochemical and molecular diagnosis of Gaucher disease (enzyme assay, complete GBA gene sequencing)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of Gaucher disease (GBA gene)
    • Institut für Humangenetik am Universitätsklinikum Freiburg
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Postnatal molecular diagnosis of Gaucher disease (sequence analysis of the entire coding region of GBA gene)
    • Azienda Ospedaliera di Padova
    • 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
    • More information
    • ITALY
    • VENETO
    • PADOVA
    • Diagnosis of Gaucher disease type 2 (GBA gene)
    • Bioarray
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • SPAIN
    • Comunidad Valenciana
    • ELCHE
    • Diagnosis of Gaucher disease - ophthalmoplegia - cardiovascular calcification syndrome (GBA gene)
    • Bioarray
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • SPAIN
    • Comunidad Valenciana
    • ELCHE
    • Biochemical diagnosis of Gaucher disease
    • Fondazione IRCCS Istituto Neurologico "Carlo Besta"
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Biochemical and molecular diagnosis of Gaucher disease (GBA and PSAP genes)
    • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • LIGURIA
    • GENOVA
    • Molecular diagnosis of Gaucher disease (GBA gene)
    • Praxis Dr. med. Ulrike Beudt
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Hessen
    • FRANKFURT AM MAIN
    • Biochemical diagnosis of Gaucher disease
    • Labor für molekulare Genetik und metabolische Erkrankungen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Biochemical and molecular diagnosis of Gaucher disease, types 1, 2 and 3. GBA gene.
    • Centro de Diagnóstico Biomédico - CDB
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical and molecular diagnosis and follow up of Gaucher disease (GBA gene sequencing)
    • Universidad de Zaragoza. Facultad de Ciencias
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SPAIN
    • Aragón
    • ZARAGOZA
    • Biochemical and molecular diagnosis of Gaucher disease (enzyme assay/ GBA gene)
    • Albrecht-Kossel-Institute for Neuroregeneration (AKos)
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Biochemical diagnosis of Gaucher disease
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Biochemical and molecular diagnosis of Gaucher disease (GBA gene)
    • CGMJM - Centro de Genética Médica Jacinto Magalhães
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Biochemical diagnosis of Gaucher disease
    • Allgemeines Krankenhaus der Stadt Wien
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of Gaucher disease (GBA gene)
    • Ospedale Regionale per le Microcitemie
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • SARDEGNA
    • CAGLIARI
    • Molecular diagnosis of Gaucher disease
    • Presidio Ospedaliero "Vito Fazzi" - ASL LE
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • PUGLIA
    • LECCE
    • Molecular diagnosis of Gaucher disease (GBA gene)
    • University of Debrecen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • HUNGARY
    • Közép-Magyarország
    • DEBRECEN
    • Biochemical and molecular diagnosis of Gaucher disease
    • U.M.F. Iuliu Hatieganu Cluj
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ROMANIA
    • CLUJ
    • CLUJ
    • Biochemical and molecular diagnosis of Gaucher disease (plasma chitotriosidase and beta-glucocerebrosidase activity; GBA gene : mutation analysis)
    • Institute of Child Health
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GREECE
    • ATTIKI
    • ATHENS
    • Biochemical diagnosis of sphingolipidoses by enzyme assay
    • University hospital of Obstetrics and Gynecology
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • BULGARIA
    •  South-West region
    • SOFIA
    • Biochemical diagnosis of Gaucher disease type 1, 2 and 3
    • Azienda Ospedaliera Universitaria Anna Meyer
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • TOSCANA
    • FIRENZE
    • Prenatal and postnatal molecular diagnosis of Gaucher disease
    • Acibadem healthcare group
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • TURKEY
    • TURKEY
    • ISTANBUL
    • Biochemical diagnosis of Gaucher disease (enzymatic activity)
    • CHU de Rouen - Hôpital Charles Nicolle
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • HAUTE-NORMANDIE
    • ROUEN
    • Molecular diagnosis of Gaucher disease (more frequent mutations in GBA with Kit RDB ViennaLab)
    • Università degli Studi di Perugia - Ospedale S. Maria della Misericordia
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • UMBRIA
    • PERUGIA
    • Molecular Diagnosis of Gaucher disease (GBA gene)
    • Universitat de Barcelona. Facultat de Biologia
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of Gaucher disease (enyme assay : glucocerebrosidase / chitotriosidase)
    • Universitätsmedizin Mainz
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • MAINZ
    • Screening for enzymatic activity in blood spot for Gaucher disease
    • A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • PIEMONTE
    • TORINO
    • Biochemical diagnosis of Gaucher disease type 1, 2 and 3 (enzyme activity assay, oligosaccharide TLC)
    • Dietmar-Hopp-Stoffwechselzentrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Biochemical diagnosis of Gaucher disease (enzyme assay: beta-Glucocerebrosidase)
    • Universitätsmedizin Göttingen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Niedersachsen
    • GÖTTINGEN
    • Molecular diagnosis of Saposin (A,B,C,D)-deficiency (PSAP gene)
    • Universitätsmedizin Göttingen
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Niedersachsen
    • GÖTTINGEN
    • Molecular diagnosis of Saposin (A,B,C,D)-deficiency (PSAP gene)
    • Albrecht-Kossel-Institute for Neuroregeneration (AKos)
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Molecular diagnosis of Gaucher disease (GBA, Mutation analysis, Carrier detection)
    • Carmel Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • HAIFA
    • Molecular diagnosis of Gaucher disease (GBA, Mutation analysis, Carrier detection)
    • Kaplan Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • REHOVOT
    • Molecular diagnosis of Gaucher (GBA, Mutation analysis, Carrier detection)
    • The Bnai Zion Medical Center, Technion-Rappaport Faculty of Medicine
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • HAIFA
    • Molecular diagnosis of Gaucher disease (GBA, Mutation analysis, Carrier detection)
    • Sheba Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • RAMAT GAN
    • Molecular diagnosis of Gaucher disease (GBA, Mutation analysis, Carrier detection)
    • Rabin Medical Center - Beilinson Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • PETAH TIKVA
    • Molecular diagnosis of Gaucher disease (GBA, Mutation analysis, Carrier detection)
    • Assaf Harofeh Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • BEER YAAKOV
    • Molecular diagnosis of Gaucher (GBA, Mutation analysis, PGD)
    • Shaare Zedek Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • JERUSALEM
    • Molecular diagnosis of Gaucher disease (GBA, Mutation analysis, Carrier detection)
    • Wolfson Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • HOLON
    • Biochemical and Molecular diagnosis of Gaucher disease (Analyte: beta-Glucocerebrosidase/ GBA gene)
    • Royal Group of Hospitals Belfast
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Antrim and Newtownabbey
    • BELFAST
    • Biochemical diagnosis of Gaucher disease (Analyte: beta-Glucocerebrosidase)
    • Guy's Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Biochemical monitoring of Gaucher disease (Analyte: Chitotriosidase)
    • Guy's Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Biochemical diagnosis of Gaucher Disease (Analyte: beta-Glucosidase)
    • Erasmus MC, Faculteitsgebouw
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Biochemical of Gaucher disease (Analyte: beta-Glucocerebrosidase)
    • Royal Hospital for Sick Children
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Lothian
    • EDINBURGH
    • Biochemical of Gaucher disease (Analyte: beta-Glucocerebrosidase)
    • Great Ormond Street Hospital for Children, NHS Foundation Trust
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Biochemical monitoring of Gaucher disease (Analyte: Chitotriosidase)
    • Great Ormond Street Hospital for Children, NHS Foundation Trust
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Biochemical diagnosis of Gaucher disease (beta-glucosidase)
    • Ghent University Hospital - UZGent
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Biochemical diagnosis of Gaucher disease (chitotriosidase)
    • Ghent University Hospital - UZGent
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Biochemical diagnosis of Gaucher disease (beta-glucosidase)
    • University Hospitals Leuven - Gasthuisberg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • BELGIUM
    • VLAAMS BRABANT
    • LEUVEN
    • Biochemical diagnosis of Gaucher disease (chitotriosidase)
    • University Hospitals Leuven - Gasthuisberg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • BELGIUM
    • VLAAMS BRABANT
    • LEUVEN
    • Biochemical follow-up of Cerezyme therapy (Cerezyme Ab)
    • University Hospitals Leuven - Gasthuisberg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • BELGIUM
    • VLAAMS BRABANT
    • LEUVEN
    • 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
    • More information
    • NETHERLANDS
    • Limburg
    • MAASTRICHT
    • Biochemical and molecular diagnosis of Gaucher disease, types 1, 2 and 3. GBA gene
    • Hospital Universitari Vall d'Hebron - Area Materno Infantil
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of Gaucher disease (beta-glucosidase and serum chitotriosidase enzymes assays)
    • Instytut Psychiatrii i Neurologii
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • POLAND
    • Warszawa
    • WARSAW
    • Biochemical diagnosis of Gaucher disease (analyte: beta-glucosidase)
    • Universitair Ziekenhuis Brussel - UZBrussel
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Molecular diagnosis of Gaucher disease (GBA gene)
    • Charles University - First faculty of medicine
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • CZECH REPUBLIC
    • Capital City Prague
    • PRAHA
    • Diagnosis of Gaucher disease (GBA gene)
    • 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
    • Technical procedure(s) : Sanger sequencing
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Biochemical and molecular diagnosis of sphingolipidosis (GMI, GMII, Sandhoff disorder, Metachromatic leukodystrophy, Fabry disorder, Gaucher disorder, ARSA, GBA, GLA, GLB1, HEXA, HEXB genes)
    • Instituto de Biologia Molecular e Celular
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of Gaucher disease (GBA gene)
    • Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BADALONA
    • Molecular diagnosis of Gaucher disease (sequencing of GBA gene)
    • Genyca Innova
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • MAJADAHONDA
    • Enzymatic diagnosis of Gaucher disease
    • Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • TOSCANA
    • SIENA
    • Molecular diagnosis of Gaucher disease (GBA gene)
    • Hospital Clínic i Provincial de Barcelona
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of Gaucher disease (glucocerebrosidase and chitotriosidase activity)
    • CHU de Grenoble site Nord - Institut de biologie et de pathologie
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • RHONE-ALPES
    • GRENOBLE
    • Biochemical diagnosis of Gaucher disease (beta-glucosidase assay in leukocytes)
    • Ospedali Riuniti "Umberto I - G.M. Lancisi - G. Salesi" - Presidio "G. Salesi"
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • MARCHE
    • ANCONA
    • Biochemical diagnosis of inborn errors of metabolism (including Austrian newborn screening program for inborn errors of metabolism)
    • Allgemeines Krankenhaus der Stadt Wien
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Preimplantation genetic diagnosis of Gaucher disease (GBA gene)
    • Igenomix Spain
    • Purpose(s) : Pre-implantation diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Biochemical and molecular diagnosis of Gaucher disease (GBA gene)
    • Medizinische Universität Graz
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • AUSTRIA
    • STEIERMARK
    • GRAZ
    • Molecular diagnosis of Gaucher disease (searching for N370S, L444P mutations by RFLP and sequencing analysis of 10 exons of GBA gene)
    • University Hospital Bratislava - Stare mesto
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SLOVAKIA
    • Bratislavsky kraj
    • BRATISLAVA
    • Biochemical diagnosis of Gaucher diseae (oligosacharide TLC of urine, enzymatic activities of beta-D-glucosidase in leukocytes and chitotriosidase in plasma)
    • University Hospital Bratislava - Stare mesto
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SLOVAKIA
    • Bratislavsky kraj
    • BRATISLAVA
    • Biochemical diagnostic of Gaucher disease (enzymatic dosage of glucocerebrosidase and chitotriosidase)
    • CHU de Nancy - Hôpital de Brabois
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • LORRAINE
    • VANDOEUVRE-LÈS-NANCY
    • Molecular diagnosis of Prosaposin deficiency (PSAP gene)
    • Medizinische Universität Graz
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • STEIERMARK
    • GRAZ
    • Molecular diagnosis of Gaucher disease (GBA gene)
    • University of Eastern Finland
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FINLAND
    • Finland
    • KUOPIO