Search for a diagnostic test
45 Result(s)
Caption
: Accreditation
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AUVERGNE-RHONE-ALPES
BRON
Diagnosis of succinyl-CoA acetoacetate transferase deficiency
CHU de Lyon HCL - GH Est
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

NOUVELLE AQUITAINE
BORDEAUX
Diagnosis of succinyl-CoA acetoacetate transferase deficiency
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 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

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

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)

Nordrhein-Westfalen
DORTMUND
Diagnosis of succinyl-CoA:3-ketoacid CoA transferase deficiency (OXCT1 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

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of succinyl-CoA:3-ketoacid CoA transferase deficiency (OXCT1 gene)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Bayern
MÜNCHEN
Diagnosis of succinyl-CoA:3-ketoacid CoA transferase deficiency (OXCT1 gene)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

AUVERGNE-RHONE-ALPES
BRON
Diagnosis of ketolysis disorders (Panel)
CHU de Lyon HCL - GH Est
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

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

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of disorder of ketolysis (panel)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Gelderland
NIJMEGEN
Diagnosis of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency (OXCT1 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

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)

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)

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

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

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

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 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

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 Succinyl-CoA: 3-Oxoacid Transferase Deficiency (Succinyl-CoA: 3-Oxoacid Transferase activity)
Amsterdam UMC, locatie AMC
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

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

Madrid
CANTOBLANCO
Diagnosis of succinyl-CoA:3-ketoacid CoA transferase deficiency (OXCT1 gene)
Universidad Autónoma de Madrid. Facultad de Ciencias
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Biochemical genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

GRAND-EST
VANDOEUVRE-LÈS-NANCY
Diagnosis of succinyl-CoA acetoacetate transferase deficiency (chromatography of 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

Comunidad Valenciana
VALENCIA
Diagnosis of succinyl-CoA:3-ketoacid CoA transferase deficiency (OXCT1 gene)
Health in Code. Valencia
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Comunidad Valenciana
ELCHE
Diagnosis of succinyl-CoA:3-ketoacid CoA transferase deficiency (OXCT1 gene)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of succinyl-CoA:3-ketoacid CoA transferase deficiency (OXCT1 gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

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

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)

LAZIO
ROMA
Biochemical diagnosis of succinyl-CoA acetoacetate transferase deficiency
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

LOMBARDIA
MILANO
Biochemical diagnosis of succinyl-CoA acetoacetate transferase deficiency
Ospedale dei Bambini ''Vittore Buzzi"
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 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 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

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

NORTE
PORTO
Diagnosis of succinyl-CoA: 3-ketoacid CoA transferase (SCOT) deficiency (OXCT1 gene)
CGMJM - Centro de Genética Médica Jacinto Magalhães
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

NORTE
PORTO
Molecular diagnosis of succinyl-CoA: 3-ketoacid CoA transferase deficiency (OXCT1 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

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

STEIERMARK
GRAZ