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FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation Diagnosis of hydroxymethylglutaricaciduria (HMGCL 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, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation Diagnosis of hydroxymethylglutaricaciduria
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

PAYS DE LA LOIRE
ANGERS

Accreditation Diagnosis of hydroxymethylglutaricaciduria
CHU d'Angers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

NORMANDIE
CAEN

Accreditation Diagnosis of hydroxymethylglutaricaciduria (organic acids/ GC-MS)
CHU de Caen - Hôpital de la Côte de Nacre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

Accreditation Diagnosis of hydroxymethylglutaricaciduria
CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation Diagnosis of hydroxymethylglutaricaciduria
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SPAIN

Cataluña
BARCELONA

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

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation Diagnosis of organic acidurias
CHU de Nice - Hôpital Pasteur
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ESTONIA

Tartu
TARTU

Accreditation Diagnosis of fatty acid oxidation defects : quantitative organic acid analysis (tandem MS)
Tartu University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ESTONIA

Tartu
TARTU

Accreditation Diagnosis of organic acidurias : quantitative organic acid analysis (GC/MS)
Tartu University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Biochemical diagnosis of Fatty Acid Oxidation Disorders (Analyte: Acetoacetate, Acylcarnitine (also isomer separation), PUFA, 3-Hydroxybutyric Acid, Lactic Acid and Pyruvic Acid)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Biochemical diagnosis of Organic Acidurias (Analyte: Acetoacetate, Acylcarnitine (also isomer separation), PUFA, 3-Hydroxybutyric Acid, Lactic Acid, Organic Acids and Pyruvic Acid)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

OCCITANIE
TOULOUSE

Accreditation Diagnosis of fatty acid oxidation defects and organic acidemias (Analyte: Acylcarnitines by chromatography)
Institut Fédératif de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Sachsen
DRESDEN

Accreditation Diagnosis of organic aciduria (urinary organic acids with GC/MS)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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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)

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GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of 3-hydroxy-3-methylglutaric aciduria (HMGCL gene)
MVZ Fenner & Krasemann
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
FREIBURG

Accreditation Diagnosis of 3-hydroxy-3-methylglutaric aciduria (HMGCL gene)
Synlab MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Accreditation Heterozygote screening by NGS Inherited Disease Panel (Kingsmore panel)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation Diagnosis of 3-hydroxy-3-methylglutaric aciduria (HMGCL gene)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
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

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of leukodystrophies (Panel)
CHU Paris - Hôpital Robert Debré
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)

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation Diagnosis of mitochondrial diseases (Panel)
CHU de Nice - Hôpital l'Archet 2
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of 3-hydroxy-3-methylglutaric aciduria (HMGCL gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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AUSTRIA

TIROL
INNSBRUCK

Accreditation Molecular diagnosis of HMG-CoA lyase deficiency (HMGCL 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

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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Molecular diagnosis of White Matter Disorders (gene panel)
Amsterdam UMC, locatie VUmc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of inborn errors of metabolism and liver failure (Panel)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of mitochondrial disorders
Hôpital Necker-Enfants Malades
Purpose(s) : Antenatal diagnosis, Pre-implantation 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), Sanger sequencing, PCR based techniques

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of hydroxymethylglutaricaciduria
CHU Paris - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation Biochemical diagnosis of fatty acid oxidation defects and organic acidaemias (Analyte: Acyl carnitine by tandem MS)
The Sheffield Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation Biochemical diagnosis of Organic acidaemias (Analyte: Qualitative organic acids)
The Sheffield Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation Biochemical diagnosis of Aminoacidopathies (Analyte: Quantitative and Qualitative amino acids)
The Sheffield Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation Biochemical diagnosis of fatty acid oxidation defects and organic acidaemias (Analyte: Acyl carnitine by tandem MS)
The Great North Children's Hospital, Royal Victoria Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation Biochemical diagnosis of Aminoacidopathies (Analyte: Quantitative amino acids)
The Great North Children's Hospital, Royal Victoria Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation Biochemical diagnosis of Organic acidaemias (Analyte: Organic acid specific quantitation, usually by stable isotope analysis)
The Great North Children's Hospital, Royal Victoria Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation Biochemical diagnosis of Organic acidaemias (Analyte: Qualitative organic acids)
The Great North Children's Hospital, Royal Victoria Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Strathclyde
GLASGOW

Accreditation Biochemical diagnosis of fatty acid oxidation defects and organic acidaemias (Analyte: Acyl carnitine by tandem MS)
Royal Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Strathclyde
GLASGOW

Accreditation Biochemical diagnosis of Aminoacidopathies (Analyte: Quantitative amino acids)
Royal Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Strathclyde
GLASGOW

Accreditation Biochemical diagnosis of Organic acidaemias (Analyte: Qualitative organic acids)
Royal Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation Biochemical diagnosis of 3-Hydroxy-3-Methylglutaric Aciduria (Analyte: 3-Hydroxy-3-Methylglutaryl-CoA Lyase)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation Biochemical diagnosis of Fatty Acid Oxidation disorders (Analyte: Acyl Carnitines by Tandem MS)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation Biochemical diagnosis of the disorders of Amino Acid Metabolism (Analyte: Amino Acids, qualitative and quantitative)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation Biochemical diagnosis of Organic Acidurias (Analyte: Organic acids, qualitative)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of Amino acid metabolism diseases (amino acid in urine/plasma/liquor)
UKE - Universitätsklinikum Hamburg-Eppendorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of fatty acid metabolism disorders (organic acids in urine/liquor, fatty acid analysis)
UKE - Universitätsklinikum Hamburg-Eppendorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Sachsen-Anhalt
MAGDEBURG

Accreditation Diagnosis of organic acidurias
Universitätsklinikum Magdeburg A.ö.R
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Sachsen-Anhalt
MAGDEBURG

Accreditation Diagnosis of fatty acid metabolism disorders
Universitätsklinikum Magdeburg A.ö.R
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Biochemical diagnosis of Fatty Acid Oxidation disorders (Analyte: Acyl Carnitines by Tandem MS)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation Biochemical diagnosis of Fatty acid oxidation disorders and Hyperinsulinism (Analyte: 3-Hydroxybutyrate)
Alder Hey Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation Biochemical diagnosis of Organic acidaemias (Analyte: Qualitative organic acids)
Alder Hey Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation Biochemical diagnosis of 3-Hydroxy-3-Methylglutaric Aciduria (Analyte: 3-Hydroxy-3-Methylglutaryl-CoA Lyase)
Birmingham Children's Hospital NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Accreditation Biochemical diagnosis of Fatty Acid Oxidation disorders (Analyte: Acyl Carnitines by Tandem MS)
Addenbrooke's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Biochemical diagnosis of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (3-Hydroxy-3-Methylglutaryl-CoA Lyase activity)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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NETHERLANDS

Utrecht
UTRECHT

Accreditation Biochemical diagnosis of Organic Acidurias (Analyte: Organic Acids, quantitative)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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NETHERLANDS

Utrecht
UTRECHT

Accreditation Biochemical diagnosis of Fatty Acid Oxidation Defects (Analyte: Organic Acids and Acylcarnitines, both quantitative)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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NETHERLANDS

Utrecht
UTRECHT

Accreditation Biochemical diagnosis of Amino Acid Metabolism and Transport Defects (Analyte: Amino Acids in plasma (D- and L-Amino Acids), urine and CSF (D- and L-Amino Acids), quantitative)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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BELGIUM

ANTWERPEN
ANTWERPEN

Accreditation Neonatal screening: Biochemical diagnosis of Fatty acid oxidation disorders (acylcarnitines: tandem MS, bloodspots)
Provinciaal Centrum voor opsporing van Metabole Aandoeningen (PCMA) - Antwerpen
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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BELGIUM

ANTWERPEN
ANTWERPEN

Accreditation Biochemical diagnosis of Organic acidurias (organic acids, acylcarnitines: by tandem MS in bloodspots & by GC/MS in plasma, urine, CSF)
Provinciaal Centrum voor opsporing van Metabole Aandoeningen (PCMA) - Antwerpen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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BELGIUM

ANTWERPEN
ANTWERPEN

Accreditation Biochemical diagnosis of Aminoacidopathies (by aminoacid analysator & tandem MS : serum, urine, CSF)
Provinciaal Centrum voor opsporing van Metabole Aandoeningen (PCMA) - Antwerpen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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BELGIUM

LIEGE
LIEGE

Accreditation Biochemical diagnosis of Organic acidurias (acylcarnitines: by tandem MS in bloodspots, serum or urine & organic acids by GC/MS in urine)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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CANADA

Ontario
OTTAWA

Accreditation Molecular Diagnosis of Inborn Error of Metabolism - 75 gene NGS Panel
Children's Hospital of Eastern Ontario
Purpose(s) : Post-natal diagnosis, Newborn screening
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SWEDEN

Västra Götalandsregionen
GÖTEBORG

Accreditation Biochemical diagnosis of amino acid metabolism diseases (amino acid in plasma/cerebrospinal fluid/urine)
Sahlgrenska Universitetssjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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CANADA

Ontario
HAMILTON

Accreditation Biochemical Analysis of Heparanized Plasma Acylcarnitine (Fractionation)
McMaster University Medical Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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CANADA

Ontario
HAMILTON

Accreditation Biochemical Diagnosis of Organic Acid Disorder (Urine)
McMaster University Medical Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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CANADA

Ontario
HAMILTON

Accreditation Biochemical Analysis of Amino Acids (UPLC plasma)
McMaster University Medical Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of fatty acid oxidation disorders (NGS screening panel: 15 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)

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FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of hydroxymethylglutaricaciduria
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

LAZIO
ROMA

Diagnosis of hydroxymethylglutaric aciduria
Policlinico Umberto I
Purpose(s) : Post-natal diagnosis, Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SPAIN

País Vasco
BARAKALDO

Biochemical diagnosis of organic acidemias (methyl citric acid)
Hospital Universitario Cruces - Osakidetza
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SPAIN

Madrid
CANTOBLANCO

Diagnosis of 3-hydroxy-3-methylglutaric aciduria (HMGCL gene)
Universidad Autónoma de Madrid. Facultad de Ciencias
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Newborn screening
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

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ITALY

CAMPANIA
NAPOLI

Diagnosis of 3-hydroxy-3-methylglutaric aciduria
Biotecnologie Avanzate Srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SPAIN

Cataluña
BARCELONA

Diagnosis of the 3-hydroxy-3-methylglutaric aciduria (HMGCL gene; SNP array)
Reprogenetics Spain S.A.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics, Other
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

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ITALY

LAZIO
ROMA

Diagnosis of methylglutaconic acidemia
Policlinico Umberto I
Purpose(s) : Post-natal diagnosis, Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of 3-hydroxy-3-methylglutaric aciduria (HMGCL 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

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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of 3-hydroxy-3-methylglutaric aciduria (HMGCL gene)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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PORTUGAL

NORTE
PORTO

Molecular diagnosis of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCL gene: sequencing of entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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GERMANY

Hessen
FRANKFURT AM MAIN

Diagnosis of fatty acid metabolism disorders (free fatty acids and ß-OH -butyrat in plasma, long chain fatty acids in serum and plasma)
Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Hessen
FRANKFURT AM MAIN

Diagnosis of organic acidurias (organic acid in urine)
Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Hessen
FRANKFURT AM MAIN

Diagnosis of Amino acid metabolism diseases (amino acids in plasma, serum, urine, liquor)
Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Biochemical diagnosis of fatty acid oxidation defects and organic acidaemias (Analyte: semi-quantitative organic acids, urine)
Universitair Ziekenhuis Brussel - UZ Brussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Biochemical diagnosis of disorders of endocrine function / gluconeogenesis / fatty acid oxidation (Analyte: Free fatty acids)
Universitair Ziekenhuis Brussel - UZ Brussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Baden-Württemberg
FREIBURG

Diagnosis of amino acid metabolism diseases (amino acid in urine/serum)
Zentrum für Kinder- und Jugendmedizin Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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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)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of rare inborn errors of metabolism (panel qSeqEsasy Neonatal)
qGenomics
Purpose(s) : Post-natal diagnosis, Newborn screening
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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ITALY

VENETO
VERONA

Plasma acylcarnitine profile analysis (MS/MS)
Azienda Ospedaliera Universitaria Integrata di Verona - Ospedale Borgo Roma
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Newborn screening
Specialty(ies) : Other

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ITALY

VENETO
VERONA

Plasma amminoacids profile (LC/MS/MS) and urinary organic acids (GC/MS)
Azienda Ospedaliera Universitaria Integrata di Verona - Ospedale Borgo Roma
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

LOMBARDIA
MILANO

Biochemical diagnosis of organic aciduria
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

LIGURIA
GENOVA

Biochemical diagnosis of organic acidemia (metabolite analysis)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

LIGURIA
GENOVA

Biochemical diagnosis of beta-oxidation deficiency (metabolite analysis)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Bayern
MÜNCHEN

Biochemical diagnosis of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Klinikum Schwabing, Städt. Klinikum GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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PORTUGAL

NORTE
PORTO

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

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AUSTRIA

TIROL
INNSBRUCK

Biochemical diagnosis of organic aciduria
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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HUNGARY

Dél-Dunántúl
PECS

Biochemical diagnosis of hydroxymethylglutaricaciduria
Department of Paediatrics - Clinical Center - University of Pécs
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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BULGARIA

 South-West region
SOFIA

Biochemical diagnosis of organic aciduria using GCMS analysis
University hospital of Obstetrics and Gynecology
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

TOSCANA
FIRENZE

Biochemical and molecular diagnosis of hydroxymethylglutaricaciduria (HMGCL gene)
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

NORMANDIE
ROUEN

Diagnosis of 3-hydroxy-3-methylglutaricaciduria
CHU de Rouen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Diagnosis of 3-hydroxy-3-methylglutaricaciduria
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Baden-Württemberg
HEIDELBERG

Diagnosis of hydroxymethylglutaricaciduria (organic acids in urine, acylcarnitine in dried blood)
Dietmar-Hopp-Stoffwechselzentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Niedersachsen
GÖTTINGEN

Diagnosis of Amino acid metabolism diseases (amino acid in urine/plasma/liquor)
Universitätsmedizin Göttingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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NETHERLANDS

Zuid-Holland
CAPELLE AAN DEN IJSSEL

Tandem-MS diagnosis of hydroxymethylglutaric aciduria (C5OH-carnitine)
IJsselland Ziekenhuis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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NETHERLANDS

Noord-Brabant
TILBURG

Tandem-MS diagnosis of hydroxymethylglutaric aciduria (C5OH-carnitine)
St. Elisabeth Ziekenhuis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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NETHERLANDS

Overijssel
ZWOLLE

Tandem-MS screening of hydroxymethylglutaric aciduria (C5OH-carnitine)
Isala Zwolle
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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NETHERLANDS

Utrecht
BILTHOVEN

Newborn screening: Tandem-MS diagnosis of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (Analyte: C5OH)
RIVM - Rijksinstituut voor Volksgezondheid en Milieu
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Diagnosis of Amino acid metabolism diseases
Universitätsklinikum Düsseldorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Bayern
MÜNCHEN

Diagnosis of Amino acid metabolism diseases
Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ISRAEL

ISRAEL
JERUSALEM

Biochemical diagnosis of Fatty acid oxidation (Palmitate and Myristate oxidation)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Aminoacidopathies (Analyte: Quantitative amino acids)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Fatty Acid Oxidation disorders (Analyte: Acyl Carnitines by Tandem MS)
St Thomas' Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Aminoacidopathies (Analyte: Quantitative amino acids)
St Thomas' Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Lothian
EDINBURGH

Biochemical diagnosis of Aminoacidopathies (Analyte: Quantitative amino acids)
Royal Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Fatty Acid Oxidation disorders (Analyte: Acyl Carnitines by Tandem MS)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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PORTUGAL

NORTE
PORTO

Portuguese National Neonatal Screening Program (Guthrie test)
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of 3-hydroxy-3-methylglutaric aciduria (GC/MS analysis)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

PUGLIA
FOGGIA

Biochemical diagnosis of 3-hydroxy-3-methylglutaric aciduria (tandem mass spectrometry)
Azienda Ospedaliero Universitaria di Foggia - Ospedali Riuniti
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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CZECH REPUBLIC

Capital City Prague
PRAHA

Molecular diagnosis of 3-hydroxy-3-methylglutaric aciduria (HMGCL gene)
Charles University - First faculty of medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Niedersachsen
HANNOVER

Diagnosis of Amino acid metabolism diseases (amino acid in urine/plasma/liquor)
Medizinische Hochschule Hannover
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Niedersachsen
HANNOVER

Diagnosis of organic acidurias
Medizinische Hochschule Hannover
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

GRAND-EST
REIMS

'Diagnosis of organic acidurias (chromatography of organic acids; enzyme assays)'
CHU de Reims - American Memorial Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

West Yorkshire
LEEDS

Biochemical diagnosis of Fatty Acid Oxidation disorders (Analyte: Acyl Carnitines by Tandem MS)
St James's University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of 3-hydroxy-3-methylglutaric aciduria (HMGCL gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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CANADA

Québec
SHERBROOKE

Biochemical analysis of free carnitine and acylcarnitine in serum by LC/MS/MS
CIUSSS de l'Estrie - CHUS Fleurimont
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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CANADA

Québec
SHERBROOKE

Biochemical analysis of organic acids in urine by GC/MS
CIUSSS de l'Estrie - CHUS Fleurimont
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

MARCHE
ANCONA

Biochemical diagnosis of organic aciduria (urine organic acid 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

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SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Biochemical diagnosis of fatty acid oxidation defects (analyte: free fatty acids, free carnitine, GC/MS analysis of organic acids in urine)
University Hospital Bratislava - Stare mesto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Diagnosis of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (chromatography of acylcarnitines and organic acids)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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CANADA

Alberta
EDMONTON

Alberta Newborn Screening Test (17 disorders)
University of Alberta Hospital
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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CANADA

Alberta
EDMONTON

Biochemical Analysis of Amino Acids (urine and blood)
University of Alberta Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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CANADA

Ontario
TORONTO

Biochemical Diagnosis of Organic Acid Disorder (Urine)
The Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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CANADA

Ontario
TORONTO

Biochemical Analysis of Total and Free Carnitine (urine/serum/plasma) and Acylcarnitine (plasma/serum)
The Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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CANADA

Ontario
TORONTO

Biochemical Analysis of Amino Acids - Quantitative (plasma, serum, CSF, urine)
The Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Diagnosis of disorders of amino acid and other organic acid metabolism
Cliniques Universitaires UCL Saint-Luc
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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