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Caption : Accreditation =Accreditation
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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Biochemical diagnosis of Peroxisomal Disorders (Analyte: Bile Acids, PUFA, Phytanic, Pristanic and Pipecolic Acid, Plasmalogens and Very Long-Chain Fatty Acids)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of leukoencephalopathy with dystonia and motor neuropathy (SCP2 gene)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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)

BELGIUM

LIEGE
LIEGE

Accreditation
Biochemical diagnosis of Peroxisomial Disorders (VLCFA, Phytanic and Pristanic Acid by GCMSMS: serum)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of leukoencephalopathy with dystonia and motor neuropathy (SCP2 gene)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of leukoencephalopathy with dystonia and motor neuropathy (SCP2 gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ALSACE
STRASBOURG

Accreditation
Diagnosis of parkinsonian disorder (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
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of leukodystrophy (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : 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

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation
Biochemical diagnosis of Peroxisomal disorders (Analyte: Very Long Chain 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

Greater Manchester
MANCHESTER

Accreditation
Biochemical diagnosis of Peroxisomal disorders (Analytes: plasmalogens, pristanic acid, phytanate and VLCFA)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Accreditation
Biochemical diagnosis of Peroxisomal disorders (Analyte: Very Long Chain Fatty Acids - VLCFA)
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 Sterol Carrier Protein X Deficiency (Sterol Carrier Protein X activity)
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 Mitochondrial Fatty Acid Oxidation Defects (Acylcarnitine Profiling)
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 Peroxisomal Disorders (Analyte: Pristanic Acid, Phytanic Acid, Pipecolic Acid and Very Long Chain Fatty Acids)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SWEDEN

Västra Götalandsregionen
GÖTEBORG

Accreditation
Biochemical diagnosis of Peroxisomal Disorders (Analyte: Plasmalogenes, Pristanic Acid, Phytanic Acid and Very Long Chain Fatty Acids)
Sahlgrenska Universitessjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

ILE-DE-FRANCE
PARIS

Peroxysomal diseases testing
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

País Vasco
BARAKALDO

Biochemical diagnosis of peroxisomal diseases (long chain fatty acids)
Hospital Universitario Cruces - Osakidetza
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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
Technique(s) : NGS sequencing (except WES)

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Diagnosis of neurodegeneration with brain iron accumulation (Panel)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

ITALY

LIGURIA
GENOVA

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

AUSTRIA

WIEN
WIEN

Biochemical diagnosis of peroxisomal diseases (analytes: very long chain fatty acids, phytanic acid)
Allgemeines Krankenhaus der Stadt Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Württemberg
HEIDELBERG

Biochemical diagnosis of peroxisomal disorders (very long chain fatty acids, phytanic acid, pipecolic acid in plasma, erythrocyte plasmalogen levels, bile acids in urine)
Dietmar-Hopp-Stoffwechselzentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Avon
BRISTOL

Biochemical diagnosis of the peroxisomal beta-oxidation disorders (Very Long Chain Fatty Acids)
Southmead Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Peroxisomal disorders (Analyte: Very Long Chain Fatty Acids)
Great Ormond Street Hospital for Children, NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

ILE-DE-FRANCE
PARIS

Biochemical diagnosis of peroxisomal diseases (very long chain fatty acids assay in plasma; phytanic and pristanic acids assays)
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Niedersachsen
GÖTTINGEN

Biochemical diagnosis of peroxisomal disorders (metabolite profile)
Universitätsmedizin Göttingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

AUSTRIA

STEIERMARK
GRAZ

Biochemical and molecular diagnosis of peroxisomal diseases (PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX11, PEX12, PEX13, PEX14, PEX16, PEX19 and PEX26 genes)
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Biochemicka diagnostika peroxizomovych ochoreni (analyt: mastne kyseliny s velmi dlhym retazcom, kyseliny pristanovej, fytanovej, pipekolovej a plazmalogenov)
University Hospital Bratislava - Stare mesto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay