Search for a diagnostic test
134 Result(s)
Caption
: Accreditation
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AUVERGNE-RHONE-ALPES
BRON
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

HAUTS-DE-FRANCE
LILLE
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

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

NORMANDIE
CAEN
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

AUVERGNE-RHONE-ALPES
GRENOBLE
Diagnosis of hydroxymethylglutaricaciduria
CHU Grenoble Alpes
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE
Diagnosis of hydroxymethylglutaricaciduria
Laboratoire Cerba
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

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

PROVENCE-ALPES-COTE D'AZUR
NICE
Diagnosis of organic acidurias
CHU de Nice - Hôpital Pasteur
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

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

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

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

Greater Manchester
MANCHESTER
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

Greater Manchester
MANCHESTER
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

Greater Manchester
MANCHESTER
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

Greater Manchester
MANCHESTER
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

Noord-Holland
AMSTERDAM
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

Noord-Holland
AMSTERDAM
Diagnosis of Organic Acidurias (Analyte: Acetoacetate, Acylcarnitine (also isomer separation), 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

OCCITANIE
TOULOUSE
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

Gelderland
NIJMEGEN
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)

Hamburg
HAMBURG
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

Baden-Württemberg
FREIBURG
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

Bayern
MÜNCHEN
Heterozygote screening by NGS Inherited Disease Panel (Kingsmore panel)
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

Nordrhein-Westfalen
DORTMUND
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

ILE-DE-FRANCE
PARIS
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)

PROVENCE-ALPES-COTE D'AZUR
NICE
Diagnosis of mitochondrial diseases (Panel)
CHU de Nice - Hôpital l'Archet 2
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

Cataluña
L'HOSPITALET DE LLOBREGAT
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

TIROL
INNSBRUCK
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

Noord-Holland
AMSTERDAM
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)

ILE-DE-FRANCE
PARIS
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)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

Baden-Württemberg
TÜBINGEN
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)

Murcia
EL PALMAR
Diagnosis of 3-hydroxy-3-methylglutaric aciduria (mass spectrometry, gas chromatography)
Centro de Bioquímica y Genética Clínica
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis, Newborn screening
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

NOUVELLE AQUITAINE
BORDEAUX
Diagnosis of hereditary intermediate metabolic diseases (Panel)
CHU de Bordeaux-GH Pellegrin
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of metabolic disorders (gene panel)
Universitair Ziekenhuis Brussel
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)

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE
Diagnosis of inborn errors of metabolism (Panel)
Laboratoire Cerba
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Whole Exome Sequencing (WES)

OCCITANIE
TOULOUSE
Diagnosis of organic acidurias
Institut Fédératif de Biologie
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

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

South Yorkshire
SHEFFIELD
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

South Yorkshire
SHEFFIELD
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

South Yorkshire
SHEFFIELD
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

Tyne & Wear
NEWCASTLE UPON TYNE
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

Tyne & Wear
NEWCASTLE UPON TYNE
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

Tyne & Wear
NEWCASTLE UPON TYNE
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

Tyne & Wear
NEWCASTLE UPON TYNE
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

Strathclyde
GLASGOW
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

Strathclyde
GLASGOW
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

Strathclyde
GLASGOW
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

Noord-Brabant
TILBURG
Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency, HMG-CoA Lyase Deficiency and Holocarboxylase Synthetase Deficiency (Analyte: C5OH)
Elisabeth-TweeSteden Ziekenhuis, Locatie Elisabeth
Purpose(s)
: Newborn screening
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

Hamburg
HAMBURG
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

Hamburg
HAMBURG
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

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

Sachsen-Anhalt
MAGDEBURG
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

South Glamorgan
CARDIFF
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

Merseyside
LIVERPOOL
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

Merseyside
LIVERPOOL
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

West Midlands
BIRMINGHAM
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

Cambridgeshire
CAMBRIDGE
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

Noord-Holland
AMSTERDAM
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

Utrecht
UTRECHT
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

Utrecht
UTRECHT
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

Utrecht
UTRECHT
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

Sachsen
DRESDEN
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

ANTWERPEN
ANTWERPEN
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

ANTWERPEN
ANTWERPEN
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

ANTWERPEN
ANTWERPEN
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

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

Ontario
OTTAWA
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)

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

Ontario
HAMILTON
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

Ontario
HAMILTON
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

Ontario
HAMILTON
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

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

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

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

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

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

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

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

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

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

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

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

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

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

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)
Universitätsklinikum Frankfurt
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

Hessen
FRANKFURT AM MAIN
Diagnosis of organic acidurias (organic acid in urine)
Universitätsklinikum Frankfurt
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

Hessen
FRANKFURT AM MAIN
Diagnosis of Amino acid metabolism diseases (amino acids in plasma, serum, urine, liquor)
Universitätsklinikum Frankfurt
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

Comunidad Valenciana
ELCHE
Diagnosis of disorders of fatty acid oxidation (panel)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

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)

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)

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

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

Galicia
SANTIAGO DE COMPOSTELA
Diagnosis of rare inborn errors of metabolism (panel)
Complejo Hospitalario Universitario de Santiago
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

GRAND-EST
VANDOEUVRE-LÈS-NANCY
Diagnosis of rare inborn errors of metabolism (Whole exome)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

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

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

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

Bayern
MÜNCHEN
Biochemical diagnosis of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
München Klinik Schwabing
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Capital City Prague
PRAHA
Molecular diagnosis of 3-hydroxy-3-methylglutaric aciduria (HMGCL gene)
Vseobecna fakultni nemocnice a 1. lekarska fakulta UK
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

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

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

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

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

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

NORTE
PORTO
Diagnosis of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCL 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)
: Sanger sequencing

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

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

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

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

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

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

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

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

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

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

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS