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FRANCE

BASSE-NORMANDIE
CAEN

Accreditation
Biochemical diagnosis of methylmalonicaciduria with homocystinuria (Cbl C, Cbl D) (organic acids/ GC-MS, acylcarnitines/MSMS, amino acids/HPLC)
CHU de Caen - Hôpital de la Côte de Nacre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation
Biochemical diagnosis of methylmalonicaciduria with homocystinuria (Cbl C, Cbl D)
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

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

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation
Biochemical diagnosis of homocystinuria due to cystathionine betasynthase or cobalamin deficiencies
CHU de Nice - Hôpital Pasteur
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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

UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation
Biochemical diagnosis of Hyperhomocysteinaemia (Analyte: Total homocysteine)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation
Biochemical diagnosis of Methylmalonic acidaemia (Analyte: Methylmalonic acid)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Methylmalonicacidemia with Homocystinuria type cblC (MMACHC gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Biochemical diagnosis of Cobalamin Synthesis and Transport Disorders (Analyte: Methylmalonic Acid and total Homocysteine)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Biochemical diagnosis of Homocystinuria (Analyte: S-adenosylmethionine, S-adenosylhomocysteine and total Homocysteine)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Sachsen
DRESDEN

Accreditation
Biochemical 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

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis in case of Unexplained Metabolic Disorders (exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : NGS sequencing (except WES)

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of methylmalonic acidemia with homocystinuria, type cblC, D and F (LMBRD1, MMACHC, MMADHC genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

BELGIUM

LIEGE
LIEGE

Accreditation
Biochemical diagnosis of Homocystinuria and MMA (Homocysteine: HPLC, plasma)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Biochemical diagnosis of 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

NETHERLANDS

Noord-Holland
AMSTERDAM

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

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of methylmalonic acidemia with homocystinuria, type cblC, D (MMACHC, MMADHC genes)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of methylmalonic acidemia with homocystinuria type cblF (LMBRD1 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

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

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) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of methylmalonic acidemia with homocystinuria type cblD (MMADHC gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
Biochemical diagnosis of Hyperhomocysteinaemia (Analyte: Total homocysteine)
The Sheffield Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
Biochemical diagnosis of Methylmalonic acidaemia (Analyte: Quantitative methylmalonic acid)
The Sheffield Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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

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 Hospita, Royal Victoria Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

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

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 Hospita, Royal Victoria Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

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

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

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

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

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

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

FRANCE

MIDI-PYRENEES
TOULOUSE

Accreditation
Biochemical diagnosis of fatty acid oxidation defects and organic acidemias (Analyte: Acylcarnitines by chromatography)
CHU de Toulouse - Hôpital Purpan
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Hamburg
HAMBURG

Accreditation
Biochemical 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

GERMANY

Sachsen-Anhalt
MAGDEBURG

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

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Methylmalonic Aciduria with Homocystinuria type cblC (MMACHC gene)
VUmc - VU medisch centrum
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
Technical procedure(s) : Sanger sequencing

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Biochemical diagnosis of Hyperhomocysteinaemia (Analyte: Total homocysteine)
Alder Hey Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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

UNITED KINGDOM

Avon
BRISTOL

Accreditation
Biochemical diagnosis of Hyperhomocysteinaemia (Analyte: Total homocysteine)
Bristol Royal Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Biochemical diagnosis of Methylmalonic Acidemia (Analyte: Methylmalonic Acid)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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

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

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

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

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Methylmalonic Aciduria with Homocystinuria type cblD (MMADHC gene)
VUmc - VU medisch centrum
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
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Methylmalonic Aciduria with Homocystinuria type cblF (LMBRD1 gene)
VUmc - VU medisch centrum
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
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Methylmalonic Aciduria with Homocystinuria type cblJ (ABCD4 gene)
VUmc - VU medisch centrum
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
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Methylmalonic Aciduria with Homocystinuria type cblX (HCFC1 gene)
VUmc - VU medisch centrum
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
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Biochemical diagnosis of Vitamine B12 Metabolism Disorders (Analyte: total Homocysteine, Homocysteine, Methylmalonic Acid and Malonic Acid in plasma)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

RHONE-ALPES
BRON

Biochemical diagnosis of methylmalonicacidemia with homocystinuria (Cbl C, Cbl D)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

ILE-DE-FRANCE
PARIS

Biochemical diagnosis of methylmalonicaciduria with homocystinuria (Cbl C, Cbl D)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

ILE-DE-FRANCE
PARIS

Biochemical and molecular diagnosis of methylmalonicaciduria with homocystinuria, cbl C and cbl D types (MMACHC and MMADHC genes)
CHU Paris - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

PAYS DE LA LOIRE
ANGERS

Biochemical diagnosis of methylmalonicaciduria with homocystinuria (Cbl C, Cbl D)
CHU d'Angers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

RHONE-ALPES
GRENOBLE

Biochemical diagnosis of methylmalonicaciduria with homocystinuria (Cbl C, Cbl D)
CHU de Grenoble site Nord - Institut de biologie et de pathologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of homocystinuria
Policlinico Umberto I
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

SARDEGNA
CAGLIARI

Biochemical diagnosis of methylmalonicaciduria with homocystinuria
Ospedale Regionale per le Microcitemie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

País Vasco
BARAKALDO

Biochemical diagnosis of methylmalonicacidemia
Hospital Universitario Cruces - Osakidetza
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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

ESTONIA

Tartu
TARTU

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

SPAIN

Madrid
CANTOBLANCO

Diagnosis of methylmalonic acidemia - homocystinuria (LMBRD1, MMACHC and MMADHC genes)
Universidad Autónoma de Madrid. Facultad de Ciencias
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

CAMPANIA
NAPOLI

Biochemical and molecular diagnosis of methylmalonic acidemia (MUT, MMAA, MMAB, MMACHC genes)
Biotecnologie Avanzate Srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Biochemical diagnosis of homocystinuria (Analyte: Total homocysteine)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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

UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Hyperhomocysteinaemia (Analyte: Total homocysteine)
St Thomas' Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical and molecular diagnosis of methylmalonic acidemia CblA, CblB, CblD type (MMAA, MMAB, MMADHC genes)
Policlinico Umberto I
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of methylglutaconic acidemia (AUH, TAZ, OPA3, DNAJC19 genes)
Policlinico Umberto I
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of methylmalonicacidemia - homocystinuria, type cbl F (LMBRD1 gene)
CHU Paris - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of methylmalonicacidemia - homocystinuria, type cbl C (MMACHC gene)
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular and biochemical diagnosis of methylmalonic acidemia with homocystinuria (MMACHC gene)
Policlinico Umberto I
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

País Vasco
DERIO

Neonatal screening of constitutional megaloblastic anemia due to vitamin B12 metabolism disorder (MS/MS)
Genetadi Biotech S.L.
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CANADA

Québec
SHERBROOKE

Biochemical diagnosis of methlymalonic acidemia (by GC/MS - quantitative method by stable isotope dilution)
CHU Sherbrooke - Hôpital Fleurimont
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CANADA

Québec
SHERBROOKE

Biochemical analysis of organic acids in urine by GC/MS
CHU Sherbrooke - Hôpital Fleurimont
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Methylmalonic acidemia with homocystinuria (LMBRD1 gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of methylmalonic acidemia with homocystinuria, type cblC (MMACHC gene / gene and mutation C.271dupA sequencing)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of methylmalonic acidemia with homocystinuria, type cblD (MMADHC gene / sequencing)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
KÖLN

Molecular diagnosis of methylmalonic acidemia with homocystinuria, type cblC, D (MMACHC, MMADHC gene: sequencing)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Methylmalonic acidemia with homocystinuria, type cblD (MMADHC gene: sequencing of the 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

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of methylmalonic acidemia with homocystinuria, type cblX (HCFC1 gene: coding region sequencing)
CHU Paris - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of methylmalonic acidemia with homocystinuria type cblF (LMBRD1 gene)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Methylmalonic acidemia with homocystinuria, type cblF (LMBRD1 gene: sequencing of the 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

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Methylmalonic acidemia with homocystinuria, type cblJ (ABCD4 gene: sequencing of the 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

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

GERMANY

Baden-Württemberg
FREIBURG

Biochemical 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

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of methylmalonic acidemia with homocystinuria, type cblC (MMACHC gene)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of methylmalonic acidemia with homocystinuria, type cblD (MMADHC gene)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of methylmalonic aciduria (sequence analysis of the entire coding region of MMACHC, MMADHC, MMAA, MMAB, MUT genes)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of methylmalonic acidemia with homocystinuria, type cblD (sequence analysis of the entire coding region of MMADHC gene)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of methylmalonic acidemia with homocystinuria type cblF (LMBRD1 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ALSACE
STRASBOURG

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

FRANCE

RHONE-ALPES
BRON

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

FRANCE

RHONE-ALPES
BRON

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

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of disorders of methionine cycle metabolism (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
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of homocystinuria (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
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of methylmalonic acidemia (gene panel)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

País Vasco
BARAKALDO

Biochemical diagnosis of homocystinuria
Hospital Universitario Cruces - Osakidetza
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Diagnosis of methylmalonicaciduria with homocystinuria (Cbl C,CblD). Cell cultures; measure synthesis active forms
CHU Henri Mondor
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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

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

GERMANY

Bayern
MÜNCHEN

Biochemical diagnosis of methylmalonicaciduria with homocystinuria
Labor für molekulare Genetik und metabolische Erkrankungen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of acidemia and methylmalonicaciduria
IRCCS Ospedale Pediatrico Bambino Gesù
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

PORTUGAL

NORTE
PORTO

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

FINLAND

Finland
HELSINKI

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

PORTUGAL

NORTE
PORTO

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

HUNGARY

Dél-Dunántúl
PECS

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

ITALY

TOSCANA
FIRENZE

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

FRANCE

HAUTE-NORMANDIE
ROUEN

Biochemical diagnosis of methylmalonicaciduria with homocystinuria
CHU de Rouen - Hôpital Charles Nicolle
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

AQUITAINE
BORDEAUX

Biochemical diagnosis of methylmalonicaciduria with homocystinuria
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

SICILIA
CATANIA

Molecular and biochemical diagnosis of methylmalonic acidemia with homocystinuria, type C (defective MMACHC gene) and type G (homocysteine-methyltetrahydrofolate-methyltransferase deficiency)
Università degli Studi di Catania
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LOMBARDIA
MILANO

Biochemical diagnosis of methylmalonic acidemia with homocystinuria
Ospedale dei Bambini ''Vittore Buzzi"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Württemberg
HEIDELBERG

Biochemical diagnosis of homocystinuria
Dietmar-Hopp-Stoffwechselzentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Württemberg
HEIDELBERG

Biochemical diagnosis of methylmalonicaciduria (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

FRANCE

LORRAINE
VANDOEUVRE-LÈS-NANCY

Biochemical and molecular diagnosis of methylmalonic aciduria CblC type with homcystinuria (MMACHC gene)
CHU de Nancy - Hôpital de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Niedersachsen
GÖTTINGEN

Biochemical 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

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

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

GERMANY

Bayern
MÜNCHEN

Biochemical 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

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

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

UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Hyperhomocysteinaemia (Analyte: Total homocysteine)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluña
BARCELONA

Biochemical and molecular diagnosis of Methylmalonicacidemia - homocystinuria, type cbl C. MMACHC gene.
Hospital Clínic de Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluña
BARCELONA

Biochemical diagnosis of cobalamin metabolism disease
Hospital Clínic de Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Biochemical diagnosis of methylmalonic acidemia with homocystinuria.
Hospital Universitari Sant Joan de Déu
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Biochemical diagnosis of cobalamin metabolism disease.
Hospital Universitari Sant Joan de Déu
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Biochemical diagnosis of methylmalonicacidemia - homocystinuria, type cbl C.
Hospital Universitari Sant Joan de Déu
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Biochemical diagnosis of methylmalonicacidemia - homocystinuria, type cbl D
Hospital Universitari Sant Joan de Déu
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Biochemical diagnosis of methylmalonicacidemia - homocystinuria, type cbl F
Hospital Universitari Sant Joan de Déu
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluña
BARCELONA

Biochemical and molecular diagnosis of Methylmalonicacidemia - homocystinuria, type cbl D. MMADHC gene.
Hospital Clínic de Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluña
BARCELONA

Biochemical diagnosis of Methylmalonicacidemia - homocystinuria, type cbl F.
Hospital Clínic de Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SWEDEN

Stockholms läns landsting
STOCKHOLM

Molecular diagnosis of methylmalonicacidemia - homocystinuria, type cbl C
Karolinska University Hospital - Solna
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
PADOVA

Biochemical diagnosis of methylmalonic acidemia
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Niedersachsen
HANNOVER

Biochemical 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

GERMANY

Niedersachsen
HANNOVER

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

FRANCE

CHAMPAGNE-ARDENNE
REIMS

Biochemical 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

UNITED KINGDOM

West Yorkshire
LEEDS

Biochemical diagnosis of Hyperhomocysteinaemia (Analyte: Total homocysteine)
St James's University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

LORRAINE
VANDOEUVRE-LÈS-NANCY

Molecular diagnosis of methylmalonicacidemia with homocystinuria, type cblF, cblJ, cblX (LMBRD1, ABCD4 and HCFC1 genes)
CHU de Nancy - Hôpital de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

PORTUGAL

NORTE
PORTO

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

ITALY

SARDEGNA
CAGLIARI

Molecular diagnosis of methylmalonicacidemia - homocystinuria, type cbl C (MMACHC gene)
Ospedale Regionale per le Microcitemie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Molecular diagnosis of methylmalonic acidemia - homocystinuria (MMACHC, MMADHC and LMBRD1 genes: entire coding sequence)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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

SPAIN

Comunidad Valenciana
PATERNA

Preimplantation genetic diagnosis of methylmalonic acidemia with homocystinuria, type cblC (MMACHC gene)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics

SWEDEN

Stockholms läns landsting
STOCKHOLM

Molecular analysis of methylmalonic acuduria and/or homocystinuria, cblD type (MMADHC gene, entire coding region, enzyme assay)
Karolinska University Hospital - Solna
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay

GERMANY

Hessen
FRANKFURT AM MAIN

Biochemical 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

GERMANY

Hessen
FRANKFURT AM MAIN

Biochemical 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

SWEDEN

Stockholms läns landsting
STOCKHOLM

Molecular analysis of methylmalonic aciduria and homocystinuria, cblF type (LMBRD1 gene)
Karolinska University Hospital - Solna
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Diagnosis of intellectual disability (Panel)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

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