x

Search for a diagnostic test

* (*) mandatory field

204 Result(s)

Filter by

Speciality(ies)/objective(s)

Technique(s)

Purpose(s)

Quality management

Country(ies)

Reset
Sort by

Caption : Accreditation =Accreditation ;

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation Diagnosis of Sanfilippo syndrome type C (HGSNAT gene)
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, Deletion / Duplication analysis, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation Diagnostic de la mucopolysaccharidose type 3
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation Diagnosis of Sanfilippo syndrome type A (SGSH gene)
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, Deletion / Duplication analysis, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
GERMANY

Hamburg
HAMBURG

Accreditation 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
Technique(s) : Sanger sequencing

More information
SPAIN

Cataluña
BARCELONA

Accreditation 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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
SWITZERLAND

Suisse Romande
GENÈVE

Accreditation Search of duplications and/or deletions by array-CGH
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technique(s) : Array based techniques, FISH

More information
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
Technique(s) : Sanger sequencing

More information
ESTONIA

Tartu
TARTU

Accreditation Diagnosis of mucopolysaccharidosis: quantitative mucopolysaccharides analysis (spectrophotometry with dimethyleneblue and electrophoresis)
Genetics and Personalized Medicine Clinic - Tartu University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
FRANCE

OCCITANIE
TOULOUSE

Accreditation Diagnostic de la mucopolysaccharidose type 3 (A, B, C, D)
Institut Fédératif de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
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

More information
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

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 diagnosis of Mucopolysaccaridosis type 3A (SGSH gene: mutations/sequencing)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

More information
GERMANY

Baden-Württemberg
FREIBURG

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

More information
GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation 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
Technique(s) : Sanger sequencing

More information
NETHERLANDS

Limburg
MAASTRICHT

Accreditation Biochemical marker for Lysosomal Storage Diseases (Analyte: Chitotriosidase)
Maastricht UMC+
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation 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
Technique(s) : Sanger sequencing

More information
NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Diagnosis of Mucopolysaccharidoses (Analyte: Glycosaminoglycans)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
SPAIN

Comunidad Valenciana
PATERNA

Accreditation Diagnosis of Sanfilippo syndrome type A (SGSH gene)
Sistemas Genómicos S.L.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

More information
GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of mucopolysaccharidosis type 3C (HGSNAT gene)
UKE - Universitätsklinikum Hamburg-Eppendorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Diagnosis of 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
Technique(s) : Whole Exome Sequencing (WES)

More information
GERMANY

Hamburg
HAMBURG

Accreditation 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
Technique(s) : Sanger sequencing

More information
NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Molecular diagnosis of Metabolic Neurodegenerative Disorders (multigene panel; 60 genes)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
UNITED KINGDOM

Greater London
LONDON

Accreditation Molecular diagnosis of Craniosynostosis 3 (TCF12 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 Craniosynostosis 4 (ERF gene)
Great Ormond Street Hospital for Children, York House
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

More information
GERMANY

Hamburg
HAMBURG

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

More information
FRANCE

GRAND-EST
STRASBOURG

Accreditation 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
Technique(s) : NGS sequencing (except WES)

More information
GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of mucopolysaccharidosis type 1, 3, 4A, 6, 7 (ARSB, GALNS, GNS, GUSB, HGSNAT, NAGLU, SGSH genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

More information
GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation Diagnosis of neurogenetic and neuromuscular diseases (NGS panel, 291 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of mucopolysaccharidosis (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
AUSTRIA

TIROL
INNSBRUCK

Accreditation Diagnosis of Mucopolysaccharidosis type 3A (SGSH gene)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
FRANCE

BRETAGNE
BREST

Accreditation Diagnosis of intellectual disability (Panel)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of metabolic diseases (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of peroxisomal and lysosomal diseases (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of epilepsy (NGS screening panel, 444 genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation Diagnosis of Sanfilippo syndrome type B (NAGLU gene)
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, Deletion / Duplication analysis, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation Diagnosis of intellectual disability (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of mental retardation and dysmorphology (NGS screening panel, 353 genes)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

More information
NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Molecular diagnosis of Vision 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
Technique(s) : Whole Exome Sequencing (WES)

More information
GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of eye diseases (NGS screening panel: 384 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

More information
GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of Lysosomal diseases (NGS screening panel: 38 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

More information
FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation Diagnosis of lysosomal disease (Panel)
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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

More information
SPAIN

Murcia
EL PALMAR

Accreditation Diagnosis of mucopolysaccharidosis (UV-Vis spectrophotometry)
Centro de Bioquímica y Genética Clínica
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Diagnosis of lysosomal diseases (gene panel)
Universitair Ziekenhuis Brussel
Purpose(s) : Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
AUSTRIA

WIEN
WIEN

Accreditation Diagnosis of Mucopolysaccharidosis type 3B (enzyme: N-alpha-acetylglucosaminidase, gene: NAGLU)
ARCHIMED Life Science GmbH
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Newborn screening
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES)

More information
FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation Diagnosis of rare genetic developmental defect during embryogenesis (Whole exome)
Centre de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, Whole Exome Sequencing (WES)

More information
FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation Diagnosis of Sanfilippo disease type C (enzymatic activity, urinary glycosaminoglycans, HGSNAT gene)
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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of mucopolysaccharidosis type 3A-D (enzyme assay: heparin sulfamidase, N-acetyl- a-D-glucosaminidase, glucosamine-N-acetyl-transferase, N-acetylglucosamine-6-sulfatase)
UKE - Universitätsklinikum Hamburg-Eppendorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
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

More information
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

More information
UNITED KINGDOM

Strathclyde
GLASGOW

Accreditation Biochemical diagnosis of Mucopolysaccharidosis type 3A (Analyte: Heparin sulphamidase)
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 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

More information
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

More information
ISRAEL

ISRAEL
JERUSALEM

Accreditation Molecular and Biochemical diagnosis of Sanfilippo A (SGSH, Heparin Sulfaminidase 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 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

More information
ISRAEL

ISRAEL
JERUSALEM

Accreditation Molecular and Biochemical diagnosis of Sanfilippo C (HGSNAT, Acetyl CoA: a-glucosaminide N-Acetyltransferase 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 Molecular and Biochemical diagnosis of Sanfilippo D (GNS, N-Acetylglucosamine -6- sulfate sulfatase 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
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

More information
BELGIUM

OOST-VLAANDEREN
GENT

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

More information
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

More information
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

More information
NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Biochemical diagnosis of Sanfilippo Syndrome type A (Analyte: Sulfamidase)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
NETHERLANDS

Noord-Holland
AMSTERDAM

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

More information
NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Biochemical diagnosis of Sanfilippo Syndrome type C (Analyte: Acetyl CoA-glucosamine acetyltransferase)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Biochemical diagnosis of Sanfilippo Syndrome type D (Analyte: N-acetylglucosamine-6-sulfatase)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
SWEDEN

Region Stockholm
STOCKHOLM

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

More information
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

More information
UNITED KINGDOM

Avon
BRISTOL

Accreditation Biochemical diagnosis of Sanfilippo syndrome type A (Analyte: Heparan sulphamidase)
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 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

More information
UNITED KINGDOM

Avon
BRISTOL

Accreditation Biochemical diagnosis of Sanfilippo syndrome type C (Analyte: Acetyl-CoA alpha-glucosaminide-N-Acetyltransferase)
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 diagnosis of Sanfilippo syndrome type D (Analyte: N-Acetylglucosamine-6-sulphatase)
Bristol Royal Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
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

More information
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

More information
BELGIUM

LIEGE
LIEGE

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

More information
BELGIUM

LIEGE
LIEGE

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

More information
NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Biochemical diagnosis of Sanfilippo Syndrome type A (Analyte: Heparan Sulfamidase)
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 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

More information
NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Biochemical diagnosis of Sanfilippo Syndrome type C (Analyte: Acetyl-CoA: Glucosaminide N-acetyltransferase)
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 Biochemical diagnosis of Sanfilippo Syndrome type D (Analyte: N-acetylglucosamine-6-sulfate sulfatase)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
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

More information
SWEDEN

Region Västra Götaland
GÖTEBORG

Accreditation Biochemical diagnosis of mucopolysaccharidosis type IIId (N-acetylglucosamine-6-sulphate sulphatase activity assay)
Sahlgrenska University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
SWEDEN

Region Västra Götaland
GÖTEBORG

Accreditation Biochemical diagnosis of mucopolysaccharidosis type IIIc (Glucosamine acetyl transferase activity assay)
Sahlgrenska University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
SWEDEN

Region Västra Götaland
GÖTEBORG

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

More information
SWEDEN

Region Västra Götaland
GÖTEBORG

Accreditation Biochemical diagnosis of mucopolysaccharidosis type IIIa (Heparane sulfate sulfamidase activity assay)
Sahlgrenska University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Molecular diagnosis of Mucopolysaccharidosis type IIIA (SGSH gene)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
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

More information
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

More information
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

More information
ITALY

CAMPANIA
NAPOLI

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
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
ITALY

LOMBARDIA
MONZA

Molecular diagnosis of mucopolysaccharidosis (type 1, 2, 3A, 3B, 3C, 3D, 6; IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS and ARSB genes)
ASST Monza - Ospedale San Gerardo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

More information
GERMANY

Mecklenburg-Vorpommern
ROSTOCK

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
Technique(s) : Sanger sequencing

More information
GERMANY

Niedersachsen
OSNABRÜCK

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
Technique(s) : Sanger sequencing

More information
SPAIN

Andalucía
MÁLAGA

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

More information
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

More information
SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of mucopolysaccharidosis type 3 (NAGLU, SGSH, GNS, HGSNAT genes)
IMEGEN - Delegación Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
ITALY

LAZIO
ROMA

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

More information
ITALY

LAZIO
ROMA

Biochemical diagnosis of Sanfilippo syndrome type C (fluorometric determination of alpha-glucosaminide-N-acetyltransferase)
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
ITALY

LAZIO
ROMA

Biochemical diagnosis of Sanfilippo syndrome type D (fluorometric determination of N-acetylglucosamine-6-sulfate sulfatase)
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

Diagnosis of mucopolysaccharidosis type 3 (enzymes activity assay)
CHU Grenoble Alpes
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of Sanfilippo syndrome type A (SGSH gene)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

More information
POLAND

Warszawa
WARSAW

Molecular diagnosis of mucopolysaccharidosis type 3A (SGSH gene: mutations in exons 2-7)
NZOZ GENOMED
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

More information
FRANCE

ILE-DE-FRANCE
PARIS

Diagnostic de la mucopolysaccharidose type 3B (dosage enzymatique)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of Sanfilippo syndrome type A (SGSH gene)
IMEGEN - Delegación Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
GERMANY

Sachsen
DRESDEN

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
Technique(s) : Sanger sequencing

More information
SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of Sanfilippo syndrome type A (SGSH gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
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
Technique(s) : NGS sequencing (except WES)

More information
SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of Sanfilippo syndrome type C (HGSNAT gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of Sanfilippo syndrome type D (GNS gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Sanfilippo syndrome type A (SGSH gene)
LabGenetics - 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
Technique(s) : Sanger sequencing

More information
SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Sanfilippo syndrome type B (NAGLU gene)
LabGenetics - 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
Technique(s) : Sanger sequencing

More information
SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Sanfilippo syndrome type C (HGSNAT gene)
LabGenetics - 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
Technique(s) : Sanger sequencing

More information
SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Sanfilippo syndrome type D (GNS gene)
LabGenetics - 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
Technique(s) : Sanger sequencing

More information
FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of lysosomal disease and purine or pyrimidine disorders of metabolism (panel)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

More information
AUSTRIA

WIEN
WIEN

Molecular diagnosis of Mucopolysaccharidosis type 3B (NAGLU gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
AUSTRIA

WIEN
WIEN

Molecular diagnosis of Mucopolysaccharidosis type 3C (HGSNAT gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
ITALY

VENETO
PADOVA

Diagnosis of intellectual disability syndromes [panel of genes]
Research&Innovation S.r.l. (R&I Genetics)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

More information
SPAIN

Madrid
MADRID

Diagnosis of metabolic diseases with epilepsy (panel)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
SPAIN

Madrid
MADRID

Diagnosis of metabolic diseases (panel)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of recessive diseases (panel, qCarrier Plus)
qGenomics
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
FRANCE

NORMANDIE
ROUEN

Diagnosis of lysosomal diseases (Panel)
CHU de Rouen
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of mucopolysaccharidosis (panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
SPAIN

Madrid
CANTOBLANCO

Diagnosis of Sanfilippo syndrome type D (GNS gene)
Universidad Autónoma de Madrid. Facultad de Ciencias
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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
SPAIN

Madrid
CANTOBLANCO

Diagnosis of Sanfilippo syndrome type C (HGSNAT gene)
Universidad Autónoma de Madrid. Facultad de Ciencias
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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
SPAIN

Madrid
CANTOBLANCO

Diagnosis of Sanfilippo syndrome type B (NAGLU gene)
Universidad Autónoma de Madrid. Facultad de Ciencias
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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
SPAIN

Madrid
CANTOBLANCO

Diagnosis of Sanfilippo syndrome type A (SGSH gene)
Universidad Autónoma de Madrid. Facultad de Ciencias
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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of Sanfilippo syndrome type C (HGSNAT gene)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
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

More information
GERMANY

Bayern
MÜNCHEN

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

More information
ITALY

LAZIO
ROMA

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

More information
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

More information
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

More information
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

More information
ITALY

VENETO
VERONA

Biochemical diagnosis of mucopolysaccharidosis, type 1, 2, 3, 4, 6 and 7
Centro Airett Ricerca e Innovazione - CARI
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
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

More information
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

More information
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

More information
PORTUGAL

NORTE
PORTO

Biochemical diagnosis of mucopolysaccharidosis type 3D
CGMJM - Centro de Genética Médica Jacinto Magalhães
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
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

More information
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
Technique(s) : Sanger sequencing

More information
GERMANY

Rheinland-Pfalz
MAINZ

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, Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
GERMANY

Baden-Württemberg
HEIDELBERG

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

More information
GERMANY

Niedersachsen
GÖTTINGEN

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

More information
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

More information
UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Mucopolysaccharidosis type 3 (Analyte: Acetyl-CoA Alpha-Glucosaminide-N-Acetyltransferase)
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 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

More information
UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Sanfilippo syndrome type A (Analyte: Heparan Sulphamidase)
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 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

More information
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

More information
UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Sanfilippo syndrome type C (Analyte: Acetyl-CoA alpha-glucosaminide-N-Acetyltransferase)
University College London Hospitals, 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 Mucopolysaccharidosis types 1, 2, 3, 4, 6, 7 & 9 (Analyte: Glycosaminoglycans qualitative)
University College London Hospitals, 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 Sanfilippo syndrome type A (Analyte: Heparan Sulphamidase)
University College London Hospitals, 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 Sanfilippo syndrome type B (Analyte: N-Acetyl-alpha-glucosaminidase)
University College London Hospitals, 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 Sanfilippo syndrome type D (Analyte: N-Acetylglucosamine-6-sulphatase)
University College London Hospitals, NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
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

More information
BELGIUM

VLAAMS BRABANT
LEUVEN

Biochemical diagnosis of Mucopolysaccharidosis type 3A (alpha-N-sulfoglucosaminidase)
UZ Leuven - Campus Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
BELGIUM

VLAAMS BRABANT
LEUVEN

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

More information
BELGIUM

VLAAMS BRABANT
LEUVEN

Biochemical diagnosis of Mucopolysaccharidosis type 3C (beta-N-glucosaminidase)
UZ Leuven - Campus Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
BELGIUM

VLAAMS BRABANT
LEUVEN

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

More information
BELGIUM

VLAAMS BRABANT
LEUVEN

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

More information
BELGIUM

VLAAMS BRABANT
LEUVEN

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

More information
BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Diagnosis of mucopolysaccharidosis (by electrophoresis; analytes: mucopolysaccharides in urines)
Cliniques universitaires Saint-Luc - UCLouvain
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

More information
NETHERLANDS

Zuid-Holland
ROTTERDAM

Biochemical diagnosis of Sanfilippo Syndrome type A (Analyte: Heparan Sulphamidase)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
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

More information
NETHERLANDS

Zuid-Holland
ROTTERDAM

Biochemical diagnosis of Sanfilippo Syndrome type C (Analyte: Acetyl-CoA:glucosamine N-acetyltransferase)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
NETHERLANDS

Zuid-Holland
ROTTERDAM

Biochemical diagnosis of Sanfilippo Syndrome type D (Analyte: N-Acetylglucosamine-6-S-sulphatase)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
POLAND

Warszawa
WARSZAWA

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

More information
POLAND

Warszawa
WARSZAWA

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

More information
POLAND

Warszawa
WARSZAWA

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

More information
POLAND

Warszawa
WARSZAWA

Biochemical diagnosis of San Filippo disease type D (N-acetylglucosamine-6-S sulfatase enzyme assay)
Instytut Psychiatrii i Neurologii
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Biochemical diagnosis of MPSIIIA- Sanfilippo A (analyte: alpha-N-sulphoglucosaminidase)
Universitair Ziekenhuis Brussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

More information
BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Biochemical diagnosis of MPSIIIC- Sanfilippo C (analyte: beta-N-glucosaminidase)
Universitair Ziekenhuis Brussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

More information
CZECH REPUBLIC

Capital City Prague
PRAHA

Molecular diagnosis of mucopolysaccharidosis type 3 (HGSNAT gene)
Vseobecna fakultni nemocnice a 1. lekarska fakulta UK
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

More information
FRANCE

GRAND-EST
REIMS

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

More information
SPAIN

Cataluña
BARCELONA

Diagnosis of Sanfilippo syndrome type B
Hospital Universitari Vall d'Hebron
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
ITALY

TOSCANA
SIENA

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

More information
CANADA

Québec
SHERBROOKE

Biochemical diagnosis of mucopolysaccharidosis (all types by colorimetric assay DMB)
CIUSSS de l'Estrie - CHUS Fleurimont
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
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

More information
ITALY

MARCHE
ANCONA

Biochemical diagnosis of mucopolysaccharidosis type IIIA (eparan-N-sulphatase assay in leukocytes, 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

More information
ITALY

MARCHE
ANCONA

Biochemical diagnosis of mucopolysaccharidosis type IIIC (acetyl-CoA alpha-glucosamine N-acetyl transferase assay in leukocytes; urine mucopolysaccharides assay and characterizatio)
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
AUSTRIA

STEIERMARK
GRAZ

Biochemical (analysis of heparin-N-sulfamidase) and molecular (SGSH gene) diagnosis of Mucopolysaccharidosis type 3A
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : Sanger sequencing

More information
PORTUGAL

NORTE
PORTO

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

More information
FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

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

More information
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

More information
CANADA

Ontario
TORONTO

Biochemical Diagnosis of Sanfilippo Disease Type A (Sanfilippo A enyzme, fibroblasts)
The Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
CANADA

Ontario
TORONTO

Biochemical Diagnosis of Sanfilippo Disease Type B (Sanfilippo B enyzme, fibroblasts/ serum/plasma/white blood cells)
The Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
CANADA

Ontario
TORONTO

Biochemical Diagnosis of Sanfilippo Disease Type C (Sanfilippo C enyzme, fibroblasts)
The Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
CANADA

Ontario
TORONTO

Biochemical Diagnosis of Sanfilippo Disease Type D (Sanfilippo D enyzme, fibroblasts)
The Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
CANADA

Ontario
TORONTO

Biochemical Analysis of Mucopolysaccharides (urine screen and urine TLC)
The Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
AUSTRIA

STEIERMARK
GRAZ

Biochemical (analysis of alpha-N-acetyl-glucosaminidase) and molecular (NAGLU gene) of Mucopolysaccharidosis type 3B
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : Sanger sequencing

More information
AUSTRIA

STEIERMARK
GRAZ

Biochemical (analysis of glucosamine-N-acetyl transferase) and molecular (HGSNAT gene) diagnosis of Mucopolysaccharidosis type 3C
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : Sanger sequencing

More information
AUSTRIA

STEIERMARK
GRAZ

Biochemical (analysis of N-acetyl glucosamine-6-sulfatase) and molecular (GNS gene) diagnosis of Mucopolysaccharidosis type 3D
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : Sanger sequencing

More information
AUSTRIA

WIEN
WIEN

Molecular diagnosis of Mucopolysaccharidosis type 3B (NAGLU gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
SPAIN

Cataluña
BARCELONA

Diagnosis of Sanfilippo syndrome
Hospital Clínic de Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Diagnosis of mucopolysaccharidosis (Panel)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Diagnosis of lysosomal diseases (Panel)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
SPAIN

Aragón
ZARAGOZA

Diagnosis of Sanfilippo syndrome type A (SGSH gene)
Hospital Universitario Miguel Servet
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis, Analyte / Enzyme assay
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

More information
SPAIN

Aragón
ZARAGOZA

Diagnosis of Sanfilippo syndrome type B (NAGLU gene)
Hospital Universitario Miguel Servet
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis, Analyte / Enzyme assay
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

More information
SPAIN

Aragón
ZARAGOZA

Diagnosis of lysosomal disease (panel)
Hospital Universitario Miguel Servet
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

More information
SPAIN

Cataluña
BARCELONA

Diagnosis of rare inborn errors of metabolism (panel)
Hospital Universitari Vall d'Hebron
Purpose(s) : Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
PORTUGAL

NORTE
PORTO

Diagnosis of Sanfilippo syndrome type A (SGSH gene)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
FRANCE

NOUVELLE AQUITAINE
HAUTE-VIENNE

Diagnosis of mucopolysaccharidosis (dosage of mucopolysaccharides in urine)
CHU de Limoges
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information