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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICTRE

Accreditation
Biochemical and molecular diagnosis of carnitine palmitoyl transferase 1 deficiency (CPT1A gene)
GHU Paris-Sud - Hpital de Bictre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : Sanger sequencing

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Biochemical diagnosis of carnitine palmitoyl transferase 1 deficiency
CHRU de Lille - Centre de Biologie Pathologie Gntique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Study of beta-oxydation on fibroblasts culture by mass spectrophotometry
CHRU de Lille - Centre de Biologie Pathologie Gntique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Carnitine Palmitoyltransferase 1 Deficiency (CPT1A gene)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
Molecular diagnosis of Mitochondrial disorders
Sheffield Children's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

FRANCE

OCCITANIE
TOULOUSE

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

GERMANY

Sachsen
DRESDEN

Accreditation
Newborn screening : Biochemical diagnosis of Carnitin cycle deficiencies (amino acid and acylcarnitine in dried blood)
Universittsklinikum Carl Gustav Carus an der TU Dresden
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Gelderland
NIJMEGEN

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

GERMANY

Bayern
MNCHEN

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

GERMANY

Bayern
MNCHEN

Accreditation
Molecular diagnosis of carnitine palmitoyl transferase 1A deficiency (CPT1A gene)
Prnatalmedizin Mnchen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICTRE

Accreditation
Diagnosis of metabolic liver diseases (Panel)
GHU Paris-Sud - Hpital de Bictre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation
Diagnosis of mitochondrial diseases (Panel)
CHU de Nice - Hpital l'Archet 2
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)

SPAIN

Catalua
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of carnitine palmitoyl transferase 1A deficiency (CPT1A gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(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 Carnitine palmitoyl transferase 1 deficiency (Analyte: Carnitine palmitoyl transferase I)
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 Fatty acid oxidation defects (Analyte: Fatty acid oxidation)
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 disorders of endocrine function / gluconeogenesis / fatty acid oxidation (Analyte: Free fatty 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 Fatty acid oxidation defects (Analyte: Fatty acid oxidation)
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 disorders of endocrine function / gluconeogenesis / fatty acid oxidation (Analyte: Free fatty 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

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

GERMANY

Hamburg
HAMBURG

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

GERMANY

Sachsen-Anhalt
MAGDEBURG

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

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

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

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

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Biochemical diagnosis of Carnitine Palmitoyl Transferase 1 Deficiency (Carnitine Palmitoyl Transferase 1 activity)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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

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

AUSTRALIA

New South Wales
WESTMEAD

Accreditation
Biochemical diagnosis of Carnitine palmitoyl transferase 1 deficiency (Carnitine palmitoyl transferase I activity)
The Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Niedersachsen
RONNENBERG

Accreditation
Newborn screening : Biochemical diagnosis of carnitine palmitoyl transferase 1 deficiency (tandem mass spectrometry)
Screening-Labor Hannover
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SWEDEN

Vstra Gtalandsregionen
GTEBORG

Accreditation
Biochemical analysis of free carnitine and acylcarnitine in serum
Sahlgrenska Universitetssjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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

ITALY

LAZIO
ROMA

Biochemical and molecular diagnosis of carnitine-palmitoyl transferase (CPT1A gene)
Policlinico Umberto I
Purpose(s) : Post-natal diagnosis, Newborn screening
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : Sanger sequencing

SPAIN

Madrid
CANTOBLANCO

Biochemical and molecular diagnosis of carnitine palmitoyl transferase 1A deficiency (CPT1A gene)
Universidad Autnoma de Madrid. Facultad de Ciencias
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Pas Vasco
DERIO

Neonatal screening of carnitine palmitoyl transferase 1A and 2 deficiency (MS/MS)
Genetadi Biotech S.L.
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

CAMPANIA
NAPOLI

Biochemical diagnosis of carnitine palmitoyl transferase 1A deficiency (measurement of amino acids and acylcarnitines by tandem mass spectrometry)
Biotecnologie Avanzate Srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Biochemical and enzymatic diagnosis of carnitine palmitoyl transferase 1 deficiency
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Carnitine palmitoyl transferase 1A deficiency (CPT1A gene)
Praxis fr Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of carnitine palmitoyl transferase 1A deficiency (CPT1A gene)
IMEGEN - Instituto de Medicina Genmica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

SPAIN

Andaluca
MLAGA

Molecular diagnosis of carnitine palmitoyl transferase 1A deficiency (CPT1A gene)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of carnitine palmitoyl transferase deficiency (sequence analysis of the entire coding region of CPT1A and CPT2 genes)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of carnitine palmitoyl transferase 1A deficiency (CPT1A gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Diagnosis of fatty acid oxidation defects and differential diagnosis (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

HAUTS-DE-FRANCE
LILLE

Diagnosis of inherited disorders of cholestasis (Panel)
CHRU de Lille - Centre de Biologie Pathologie Gntique
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)

SPAIN

Pas Vasco
BARAKALDO

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

GERMANY

Baden-Wrttemberg
STUTTGART

Molecular diagnosis of carnitine palmitoyl transferase 1A deficiency (CPT1A gene)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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

SPAIN

Catalua
BARCELONA

Diagnosis of carnitine palmitoyl transferase I deficiency (CPT1A gene)
Hospital Clnic de Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Bayern
MNCHEN

Biochemical and molecular diagnosis of carnitine palmitoyltransferase 1 deficiency
Klinikum Schwabing, Stdt. Klinikum GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MNCHEN

Biochemical diagnosis of carnitine palmitoyl transferase 1 deficiency
Labor fr molekulare Genetik und metabolische Erkrankungen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LOMBARDIA
MILANO

Biochemical diagnosis of carnitine-palmitoyl transferase deficiency, 1 and 2
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of carnitine-palmitoyl transferase deficiency, 1 and 2
IRCCS Ospedale Pediatrico Bambino Ges
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

PORTUGAL

NORTE
PORTO

Biochemical diagnosis of carnitine palmitoyl transferase 1 deficiency
CGMJM - Centro de Gentica Mdica Jacinto Magalhes
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ESTONIA

Tartu
TARTU

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

GERMANY

Baden-Wrttemberg
HEIDELBERG

Newborn screening : Biochemical diagnosis of carnitine palmitoyl transferase 1 deficiency
Dietmar-Hopp-Stoffwechselzentrum
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Wrttemberg
HEIDELBERG

Biochemical diagnosis of carnitine palmitoyl transferase 1 deficiency (acylcarnitine in dried blood and plasma, carnitine status in plasma)
Dietmar-Hopp-Stoffwechselzentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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

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

UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Carnitine palmitoyl transferase 1 deficiency (Carnitine Palmitoyl Transferase 1)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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

ITALY

TOSCANA
FIRENZE

Biochemical diagnosis of carnitine-palmitoyl transferase type 1 deficiency
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

PORTUGAL

NORTE
PORTO

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

NETHERLANDS

Zuid-Holland
ROTTERDAM

Biochemical diagnosis of CPT-1 and CPT-2 Deficiency (Analyte: Carnitine Palmitoyltransferase 1 and 2)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Catalua
ESPLUGUES DE LLOBREGAT

Diagnosis of carnitine palmitoyl transferase 1A deficiency (spectrophotometry analysis)
Hospital Sant Joan de Du Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

VENETO
PADOVA

Biochemical diagnosis of carnitine palmitoyl transferase 1 and 2 deficiency
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

PUGLIA
FOGGIA

Biochemical diagnosis of carnitine-palmitoyl transferase (1 and 2) deficiency (tandem mass spectrometry)
Azienda Ospedaliero Universitaria di Foggia - Ospedali Riuniti
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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

SPAIN

Madrid
SAN SEBASTIN DE LOS REYES

Diagnosis of carnitine palmitoyl transferase 1A deficiency (CPT1A gene)
Laboratorio de Gentica Clnica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

CANADA

Qubec
SHERBROOKE

Biochemical analysis of free carnitine and acylcarnitine in serum by LC/MS/MS
CHU Sherbrooke - Hpital Fleurimont
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

AUSTRIA

WIEN
WIEN

Austrian newborn screening program for inherited metabolic and endocrine disorders
Allgemeines Krankenhaus der Stadt Wien
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

GRAND-EST
VANDOEUVRE-LS-NANCY

Biochemical diagnosis of carnitine palmitoyl transferase 1A deficiency (chromatography of acylcarnitines)
CHU de Nancy - Hpitaux de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Hessen
FRANKFURT AM MAIN

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

AUSTRIA

STEIERMARK
GRAZ

Molecular diagnosis of Carnitine palmitoyl transferase 1A deficiency (CPT1A gene)
Medizinische Universitt Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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