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FRANCE

NORD-PAS-DE-CALAIS
LILLE

Accreditation
Biochemical diagnosis of mucopolysaccharidosis type 3
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Mucopolysaccharidosis type 3A, 3B, 3C and 3D (SGSH, NAGLU, HGSNAT and GNS gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Mucopolysaccharidosis type 3 (Sanfilippo syndrome) types A & B (SGSH and NAGLU genes)
Great Ormond Street Hospital for Children, York House
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Biochemical and molecular diagnosis of mucopolysaccharidosis type 1, 2, 3A-D, 4A-B, 6, 7 and 9 (enzyme assay/ ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL, IDUA, IDS, NAGLU, SGSH genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of mucopolysaccharidosis type 1, 2, 3A-D, 4A-B, 6 and 7 (ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, IDS, IDUA, NAGLU, SGSH genes)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of mucopolysaccharidosis type 1, 2, 3A-D, 4A-B, 6, 7 and 9 (ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH genes)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation
Biochemical diagnosis of Mucopolysaccharidosis types 1, 2, 3, 4, 6, 7 & 9 (Analyte: Glycosaminoglycans qualitative)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of mucopolysaccharidosis type 1, 2, 3A-D, 4, 6, 7 and 9 (ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL, IDUA, IDS, NAGLU, SGSH genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Biochemical diagnosis of Mucopolysaccharidoses (Analyte: Glycosaminoglycans)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation
Molecular diagnosis of Mucopolysaccharidosis type 3 (Genes: SGSH & NAGLU)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis in case of Unexplained Metabolic Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Whole Exome Sequencing (WES)

BELGIUM

LIEGE
LIEGE

Accreditation
Biochemical diagnosis of Mucopolysaccharidosis (mucopolysaccharides GAGs: electrophoresis, urine)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Biochemical diagnosis of Mucopolysaccharidosis (mucopolysaccharides GAGs: colorimetric DMB test, urine)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of mucopolysaccharidosis type 1, 2, 3A-D, 4A-B, 6, 7 and 9 (ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH genes)
MVZ Fenner & Krasemann
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Metabolic Neurodegenerative Disorders (multigene panel; 60 genes)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : NGS sequencing (except WES)

GERMANY

Bayern
MÜNCHEN

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) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of mucopolysaccharidosis type 3 (GNS, NAGLU, SGSH genes)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of Sanfilippo syndrome type B (NAGLU gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of mucopolysaccharidosis type 1, 3, 4A, 6 (ARSB, GALNS, GNS, HGSNAT, NAGLU, SGSH genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

GERMANY

Hamburg
HAMBURG

Accreditation
Biochemical diagnosis of mucopolysaccharidosis type 3A-D
UKE - Universitätsklinikum Hamburg-Eppendorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

MIDI-PYRENEES
TOULOUSE

Accreditation
Biochemical diagnosis of mucopolysaccharidosis type 3 (A, B, C, D)
CHU de Toulouse - Hôpital Purpan
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
Biochemical diagnosis of Mucopolysaccharidosis types 1, 2, 3, 4, 6, 7 & 9 (Analyte: Glycosaminoglycans)
The Sheffield Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Strathclyde
GLASGOW

Accreditation
Biochemical diagnosis of Mucopolysaccharidosis types 1, 2, 3, 4, 6, 7 & 9 (Analyte: Glycosaminoglycans)
Royal Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Strathclyde
GLASGOW

Accreditation
Biochemical diagnosis of Mucopolysaccharidosis type 3B (Analyte: N-acetyl-alpha-glucosaminidase)
Royal Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation
Biochemical diagnosis of Mucopolysaccharidosis type 3 (Analytes: acetyl-CoA alpha-glucosaminide-N-acetyltransferase, N-acetyl-alpha-glucosaminidase & heparin sulphamidase)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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

ISRAEL

ISRAEL
JERUSALEM

Accreditation
Molecular and Biochemical diagnosis of Mucopolysaccharidosis (Sulfate Uptake analysis)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ISRAEL

ISRAEL
JERUSALEM

Accreditation
Molecular and Biochemical diagnosis of Sanfilippo B (NAGLU, a-N-Acetyl-glucosaminidase analysis)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

ANTWERPEN
ANTWERPEN

Accreditation
Biochemical diagnosis of Mucopolysaccharidosis (mucopolysaccharides GAGs: colorimetric DMB test, urine)
Provinciaal Centrum voor opsporing van Metabole Aandoeningen (PCMA) - Antwerpen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

ANTWERPEN
ANTWERPEN

Accreditation
Biochemical diagnosis of Mucopolysaccharidosis (mucopolysaccharides GAGs: electrophoresis, urine)
Provinciaal Centrum voor opsporing van Metabole Aandoeningen (PCMA) - Antwerpen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Biochemical diagnosis of Sanfilippo Syndrome type B (Analyte: N-acetyl-alpha-D-glucosaminidase)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Hampshire
SOUTHAMPTON

Accreditation
Biochemical diagnosis of Mucopolysaccharidosis types 1, 2, 3, 4, 6, 7 & 9 (Analyte: Glycosaminoglycans qualitative)
Southampton General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Avon
BRISTOL

Accreditation
Biochemical diagnosis of Sanfilippo syndrome type B (Analyte: N-Acetyl-alpha-glucosaminidase)
Bristol Royal Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Accreditation
Biochemical diagnosis of Mucopolysaccharidosis types 1, 2, 3, 4, 6, 7 & 9 (Analyte: Glycosaminoglycans qualitative)
Addenbrooke's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Biochemical diagnosis of Mucopolysaccharidosis (Analyte: Glycosaminoglycans, Chondroitinesulphate, Dermatansulphate, Heparansulphate and Keratansulphate in urine)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Biochemical diagnosis of Sanfilippo Syndrome type B (Analyte: N-acetyl-alpha-D-Glucosaminidase)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

AUSTRALIA

New South Wales
WESTMEAD

Accreditation
Biochemical diagnosis of Mucopolysaccharidosis types 1, 2, 3, 4, 6, 7 & 9 (Analyte: Glycosaminoglycans)
The Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SWEDEN

Västra Götalandsregionen
GÖTEBORG

Accreditation
Biochemical diagnosis of mucopolysaccharidosis type IIIb (Alpha-N-acetylglucosaminidase activity assay)
Sahlgrenska Universitessjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CANADA

Ontario
LONDON

Accreditation
Molecular Diagnosis of Lysosomal Storage Disorder - NGS Panel (50 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)

FRANCE

ILE-DE-FRANCE
PARIS

Urine testing for mucopolysaccharidosis type 3
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

RHONE-ALPES
BRON

Molecular and biochemical diagnosis of mucopolysaccharidosis type 3A and 3B (SGSH and NAGLU genes)
CHU de Lyon HCL - GH Est
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Analyte / Enzyme assay
Technical procedure(s) : Sanger sequencing

GERMANY

Hamburg
HAMBURG

Molecular diagnosis of mucopolysaccharidosis type 3A and 3B (NAGLU, SGSH genes)
UKE - Universitätsklinikum Hamburg-Eppendorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

ITALY

SARDEGNA
CAGLIARI

Biochemical diagnosis of mucopolysaccharidosis, type 1, 2, 3, 4, 6, 7
Ospedale Regionale per le Microcitemie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Molecular diagnosis of mucopolysaccharidosis type 1, 3A, 3B, 4B and 6 (IDUA, SGSH, NAGLU, GLB1,ARSB genes)
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ESTONIA

Tartu
TARTU

Diagnosis of mucopolysaccharidosis : urinary screening tests
Tartu University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of mucopolysaccharidosis type IIIA (SGSH gene), IIIB (NAGLU gene) and IIIC (HGSNAT gene)
Biotecnologie Avanzate Srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MONZA

Molecular diagnosis of mucopolysaccharidosis (type 1, 2, 3A, 3B, 3C, 3D, 6; IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS and ARSB genes)
Consorzio per la Genetica Molecolare Umana
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of mucopolysaccharidosis type 1, 3B and 4A,B (GALNS, GLB1, IDUA, NAGLU genes)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Biochemical diagnosis of Mucopolysaccharidosis (mucopolysaccharides)
Universitair Ziekenhuis Brussel - UZBrussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Andalucía
MÁLAGA

Diagnosis of Sanfilippo syndrome type B (NAGLU gene)
Genetaq
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of mucopolysaccharidosis type 3 (NAGLU, SGSH, GNS, HGSNAT genes)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Biochemical diagnosis of Sanfilippo syndrome type B (fluorometric determination of alpha-hexosaminidase)
IRCCS Ospedale Pediatrico Bambino Gesù
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CANADA

Québec
SHERBROOKE

Biochemical diagnosis of mucopolysaccharidosis (all types by colorimetric assay DMB)
CHU Sherbrooke - Hôpital Fleurimont
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Mucopolysaccharidoses type 1, 3B and 4A (IDUA, NAGLU, and GALNS genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Prenatal and postnatal molecular diagnosis of mucopolysaccharidosis type 3B, 3C, 3D, 4B, 7 and 9 (NAGLU, HGSNAT, GNS, GLB1, GUSB, HYAL1 genes: sequencing of entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

FRANCE

ILE-DE-FRANCE
PARIS

Biochemical diagnosis of mucopolysaccharidose type 3B (enzyme assay)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of mucopolysaccharidosis type 1, 3B, 3D (GNS, IDUA, NAGLU genes)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of Sanfilippo syndrome type B (NAGLU 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)

FRANCE

ALSACE
STRASBOURG

Diagnosis of intellectual disability (Panel)
CHU de Strasbourg - Hôpital Civil
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

RHONE-ALPES
BRON

Diagnosis of intellectual disability (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

ITALY

LOMBARDIA
MILANO

Biochemical diagnosis of mucopolysaccharidosis type 1, 2, 3, 4, 6 and 7
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LIGURIA
GENOVA

Biochemical diagnosis of type 1, 2, 3, 4, 6 mucopolysaccharidosis
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluña
BARCELONA

Diagnosis of mucopolysaccharidosis type 3 (GNS, HGSNAT, NAGLU, SGSH genes)
Hospital Clínic de Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Analyte / Enzyme assay
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Biochemical diagnosis of mucopolysaccharidosis type 3A-D
Labor für molekulare Genetik und metabolische Erkrankungen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of mucopolysaccharidosis, type 1, 2, 3, 4, 6
IRCCS Ospedale Pediatrico Bambino Gesù
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

PORTUGAL

NORTE
PORTO

Biochemical and molecular diagnosis of mucopolysaccharidosis type 3A,B,C (HGSNAT, NAGLU and SGSH genes)
CGMJM - Centro de Genética Médica Jacinto Magalhães
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FINLAND

Finland
HELSINKI

Biochemical diagnosis of mucopolysaccharidosis type 3
Clinical Research Institute HUCH Ltd
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

AUSTRIA

WIEN
WIEN

Biochemical diagnosis of Mucopolysaccharidosis type III/B (alpha-N-acetylglucosaminidase activity)
Allgemeines Krankenhaus der Stadt Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

TOSCANA
SIENA

Biochemical diagnosis of mucopolysaccharidosis, type 1, 2, 3, 4, 6 and 7
Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ROMANIA

CLUJ
CLUJ

Biochemical diagnosis of mucopolysaccharidosis type 1, 3, 4, 6 and 7
U.M.F. Iuliu Hatieganu Cluj
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GREECE

ATTIKI
ATHENS

Biochemical and molecular diagnosis of mucopolysaccharidosis type 3B (mucopolysaccharides quantitation and electrophoresis; N-Acetyl glucosaminidase assay; NAGLU gene: mutation analysis)
Institute of Child Health
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BULGARIA

 South-West region
SOFIA

Biochemical diagnosis of mucopolysaccharidoses by urinary screening tests
University hospital of Obstetrics and Gynecology
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

TOSCANA
FIRENZE

Biochemical diagnosis of mucopolysaccharidosis type 1, 2, 3B, 6, 7
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

HAUTE-NORMANDIE
ROUEN

Biochemical and molecular diagnosis of mucopolysaccharidosis type 3 (SGSH, NAGLU, GNS and HGSNAT genes)
CHU de Rouen - Hôpital Charles Nicolle
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis, Analyte / Enzyme assay
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

LITHUANIA

DZUKIJA
VILNIUS

Biochemical diagnosis of mucopolysaccharidosis by quantitative estimation of glycosaminoglycans
Vilnius University Hospital Santariskiu Klinikos
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluña
BARCELONA

Diagnosis of Sanfilippo syndrome types A, B and C (SGSH, NAGLU, HGSNAT genes)
Universitat de Barcelona. Facultat de Biologia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Rheinland-Pfalz
MAINZ

Biochemical diagnosis of mucopolysaccharidosis type 1, 2, 3A-D, 4A-B, 6 and 7 (enzyme assay, MPS urine screening, MPS electrophoresis)
Universitätsmedizin Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Württemberg
HEIDELBERG

Biochemical diagnosis of mucopolysaccharidosis type 1, 2, 3A-D, 4A-B, 6 and 7 (enzyme assay, MPS electrophoresis)
Dietmar-Hopp-Stoffwechselzentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Niedersachsen
GÖTTINGEN

Biochemical diagnosis of mucopolysaccharidosis type 1, 2, 3A-D, 4A-B, 6 and 7 (metabolite profile / enzyme assay)
Universitätsmedizin Göttingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Antrim and Newtownabbey
BELFAST

Biochemical diagnosis of Sanfilippo syndrome type B (Analyte: N-Acetyl-alpha-Glucosaminidase)
Royal Group of Hospitals Belfast
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Mucopolysaccharidosis types 1, 2, 3, 4, 6, 7 & 9 (Analyte: Glycosaminoglycans qualitative)
Guy's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Sanfilippo syndrome type B (Analyte: N-Acetyl-alpha-Glucosaminidase)
Guy's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Lothian
EDINBURGH

Biochemical diagnosis of Mucopolysaccharidosis types 1, 2, 3, 4, 6, 7 & 9 (Analyte: Glycosaminoglycans qualitative)
Royal Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Mucopolysaccharidosis types 1, 2, 3, 4, 6, 7 & 9 (Analyte: Glycosaminoglycans qualitative)
Great Ormond Street Hospital for Children, NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Sanfilippo syndrome type B (Analyte: N-Acetyl-alpha-glucosaminidase)
Great Ormond Street Hospital for Children, NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Antrim and Newtownabbey
BELFAST

Biochemical diagnosis of Mucopolysaccharidosis types 1, 2, 3, 4, 6, 7 & 9 (Analyte: Glycosaminoglycans qualitative)
Royal Group of Hospitals Belfast
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

VLAAMS BRABANT
LEUVEN

Biochemical diagnosis of Mucopolysaccharidosis type 3B (alpha-N-Ac-D-glucosaminidase)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

VLAAMS BRABANT
LEUVEN

Biochemical diagnosis of Mucopolysaccharidosis (mucopolysaccharides)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

VLAAMS BRABANT
LEUVEN

Biochemical diagnosis of Mucopolysaccharidosis (mucopolysaccharides - electrophoresis)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

OOST-VLAANDEREN
GENT

Biochemical diagnosis of Mucopolysaccharidosis (mucopolysaccharides in urine)
Ghent University Hospital - UZGent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Biochemical diagnosis of Mucopolysaccharidosis (glycosaminoglycans qualitatively)
Cliniques Universitaires UCL de Saint Luc - UCLStLuc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Biochemical diagnosis of Mucopolysaccharidosis (glycosaminoglycans quantitatively)
Cliniques Universitaires UCL de Saint Luc - UCLStLuc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Zuid-Holland
ROTTERDAM

Biochemical diagnosis of Sanfilippo Syndrome type B (Analyte: alpha-N-acetylglucosaminidase)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Limburg
MAASTRICHT

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

SWEDEN

Stockholms läns landsting
STOCKHOLM

Biochemical diagnosis of mucopolysaccharidosis type 3 (heparan sulfamidase, alpha-N-acetylglucosaminidase, alpha-glucosaminide N-acetyltransferase and N-acetylglucosamine-6-sulfate sulfatase activity assays)
Karolinska University Hospital - Solna
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

POLAND

Warszawa
WARSAW

Biochemical diagnosis of San Filippo disease type B (alpha-glucosaminidase enzyme assay)
Instytut Psychiatrii i Neurologii
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Biochemical diagnosis of MPSIIIB- Sanfilippo B (analyte: alpha-N-glucosaminidase)
Universitair Ziekenhuis Brussel - UZBrussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

CHAMPAGNE-ARDENNE
REIMS

Biochemical diagnosis of mucopolysaccharidoses type 1, 2, 3, 4, 6 (chromatography of mucopolysaccharides)
CHU de Reims - American Memorial Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LIGURIA
GENOVA

Molecular diagnosis of mucopolysaccharidosis type 3A and 3B (SGS and NAGLU genes)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
BARCELONA

Biochemical diagnosis of mucopolysaccharidosis types 3B, 3C and 3D (enzyme activity assays)
Hospital Universitari Vall d'Hebron - Area Materno Infantil
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

TOSCANA
SIENA

Enzymatic diagnosis of mucopolysaccharidosis type I, IIIB, IVA, IVB, VII
Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

RHONE-ALPES
GRENOBLE

Biochemical diagnosis of mucopolysaccharidosis type 3 (enzymes activity assay)
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

ITALY

MARCHE
ANCONA

Biochemical diagnosis of mucopolysaccharidosis type IIIB (N-acetyl-alpha-D-glucosaminidase assay in plasma; urine mucopolysaccharides assay and characterization)
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

AUSTRIA

STEIERMARK
GRAZ

Biochemical and molecular diagnosis of Sanfilippo syndrome type A, B, C and D (SGSH, NAGLU, HGSNAT and GNS genes)
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

LORRAINE
VANDOEUVRE-LÈS-NANCY

Biochemical diagnostic of mucopolysaccharidosis type 3 (chromatography of mucopolysaccharides)
CHU de Nancy - Hôpital de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Sanfilippo syndrome type B (NAGLU 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, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

CANADA

Alberta
EDMONTON

Biochemical Analysis of Mucopolysaccharides
University of Alberta Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay