Search for a diagnostic test
100 Result(s)
Caption
: Accreditation
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HAUTS-DE-FRANCE
LILLE
Biochemical diagnosis of X-linked adrenoleukodystrophy
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

LIEGE
LIEGE
Molecular diagnosis of Adrenoleukodystrophy (ABCD1 gene)
CHU de LIEGE - UniLab Lg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Gelderland
NIJMEGEN
Molecular diagnosis of Adrenoleukodystrophy (ABCD1 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

Noord-Holland
AMSTERDAM
Molecular diagnosis of X-linked Adrenoleukodystrophy (ABCD1 gene)
AMC - Academisch Medisch Centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

OCCITANIE
TOULOUSE
Biochemical diagnosis of X-linked adrenoleukodystrophy
CHU de Toulouse - Hôpital Purpan
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

Mecklenburg-Vorpommern
ROSTOCK
Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
Centogene AG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Noord-Holland
AMSTERDAM
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

Mecklenburg-Vorpommern
ROSTOCK
Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene: sequencing/ MLPA)
Diagenom GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Baden-Württemberg
MANNHEIM
Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 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

Suisse Alémanique
ZÜRICH
Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
Genetica AG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Rheinland-Pfalz
INGELHEIM AM RHEIN
Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

OCCITANIE
MONTPELLIER
Preimplantation molecular diagnosis of X-linked cerebral adrenoleukodystrophy (ABCD1 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics

Gelderland
NIJMEGEN
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)

LIEGE
LIEGE
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

Hamburg
HAMBURG
Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
MVZ Fenner & Krasemann
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Noord-Holland
AMSTERDAM
Molecular diagnosis of Metabolic Neurodegenerative Disorders (multigene panel; 60 genes)
AMC - Academisch Medisch Centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Baden-Württemberg
FREIBURG
Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
Praxis für Humangenetik Freiburg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Wiltshire
SALISBURY
Molecular Diagnosis of Male Infertility Due To Y Chromosome Deletions (DDX3Y, DAZ1, DAZ2, DAZ3, USP9Y genes: targeted mutation analysis)
Salisbury District Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Deletion / Duplication analysis

Bayern
MÜNCHEN
Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene: sequencing/ MLPA)
Pränatalmedizin München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

GRAND-EST
STRASBOURG
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)

Hamburg
HAMBURG
Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
Labor Lademannbogen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Cataluña
L'HOSPITALET DE LLOBREGAT
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

TIROL
INNSBRUCK
Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 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

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of metabolic diseases (gene 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)

Merseyside
LIVERPOOL
Molecular diagnosis of X-linked Adrenoleukodystrophy (ABCD1 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

South Yorkshire
SHEFFIELD
Biochemical diagnosis of Peroxisomal biogenesis disorders & Peroxisomal single enzyme defects (Analyte: Fatty acids very-long-chain)
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 Adult Refsum disease / Peroxisomal disorders (Analyte: Phytanic acid)
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 Peroxisomal disorders (Analytes: Pristanic acid, plasmalogens, pipecolic acid & Very Long Chain Fatty 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 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

Tyne & Wear
NEWCASTLE UPON TYNE
Biochemical diagnosis of Peroxisomal disorders (Analyte: Pristanic acid)
The Great North Children's Hospita, Royal Victoria Infirmary
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

Greater Manchester
MANCHESTER
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

Cambridgeshire
CAMBRIDGE
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

Noord-Holland
AMSTERDAM
Biochemical diagnosis of X-linked Adrenoleukodystrophy (ALDP immunofluorescence and VLCFA measurement)
AMC - Academisch Medisch Centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Protein expression
Technique(s)
: Immunohistochemistry

Noord-Holland
AMSTERDAM
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

Utrecht
UTRECHT
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

West Yorkshire
LEEDS
Molecular Diagnosis of Male Infertility Due To Y Chromosome Deletions (DDX3Y, DAZ1, DAZ2, DAZ3, USP9Y genes: targeted mutation analysis / Testing for known mutations in family members)
St James's University Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Deletion / Duplication analysis

Västra Götalandsregionen
GÖTEBORG
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

Ontario
KINGSTON
Molecular Diagnosis of X-Linked Adrenoleukodystrophy (Linkage Analysis to ABCD1)
Kingston General Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Baden-Württemberg
TÜBINGEN
Molecular diagnosis of Leukodystrophy and Leukencephalopathy (ABCD1, ADAR, AIMP1, ARSA, ASPA, CLCN2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FOLR1, GALC, GFAP, GJC2, HEPACAM, HSPD1, L2HGDH, MLC1, NOTCH3, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SOX10, SUMF1, TREX1, TUBB4A genes: Brain Development Disorders Panel)
CeGaT GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Ontario
HAMILTON
Biochemical Diagnosis of Peroxisome Disorder (plasma/serum GCMS, VLCFA and phytanic acid)
McMaster University Medical Centre
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

ILE-DE-FRANCE
PARIS
Biochemical diagnosis of X-linked adrenoleukodystrophy
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

AUVERGNE-RHONE-ALPES
BRON
Diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
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, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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

SARDEGNA
CAGLIARI
Molecular diagnosis of adrenoleucodystrophy (ABCD1 gene)
Ospedale Regionale per le Microcitemie
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

SARDEGNA
CAGLIARI
Biochemical diagnosis of X-linked adrenoleukodystrophy
Ospedale Regionale per le Microcitemie
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

ILE-DE-FRANCE
PARIS
Biochemical diagnosis of X-linked adrenoleukodystrophy (very long chain plasmatic fatty acid)
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

LAZIO
ROMA
Molecular diagnosis of adrenoleukodystrophy (ABCD1 gene)
Laboratorio Genoma
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Hovedstaden
COPENHAGEN
Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene sequencing)
Rigshospitalet
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

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

VENETO
COSTOZZA DI LONGARE
Molecular diagnosis of X-lined adrenoleukodystrophy (ABCD1 gene)
B.I.R.D. Foundation
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Madrid
CANTOBLANCO
Biochemical diagnosis of X-linked adrenoleukodystrophies
Universidad Autónoma de Madrid. Facultad de Ciencias
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

Cataluña
BARCELONA
Diagnosis of the X-linked adrenoleukodystrophy (ABCD1 gene; SNP array)
Reprogenetics Spain S.A.
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics, Other
Objective(s)
: Targeted mutation analysis
Technique(s)
: Sanger sequencing, PCR based techniques

Andalucía
MÁLAGA
Diagnosis of X-linked cerebral adrenoleukodystrophy (ABCD1 gene)
Genetaq
Purpose(s)
: Antenatal diagnosis, 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, PCR based techniques, MLPA based techniques

ILE-DE-FRANCE
PARIS
Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Comunidad Valenciana
PATERNA
Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene / complete sequencing, MLPA)
IMEGEN - Instituto de Medicina Genómica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Technique(s)
: MLPA based techniques

Warszawa
WARSAW
Molecular diagnosis of adrenoleukodystrophy (ABCD1 gene)
NZOZ GENOMED
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

LAZIO
ROMA
Molecular diagnosis of adrenoleukodystrophy (ABCD1 gene)
IRCCS Ospedale Pediatrico Bambino Gesù
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Comunidad Valenciana
PATERNA
Molecular diagnosis of adrenomyeloneuropathy (ABCD1 gene)
Sistemas Genómicos S.L.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Warszawa
WARSAW
Badanie molekularne w kierunku adrenoleukodystrofii (gen ABCD1)
MEDGEN
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s)
: PCR based techniques, MLPA based techniques

Niedersachsen
OSNABRÜCK
Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
Praxis Dres. Gencik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

País Vasco
SAN SEBASTIÁN
Diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
DNA Data
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

AUVERGNE-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)

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)

WIEN
WIEN
Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Madrid
MADRID
Diagnosis of X-linked syndromic intellectual disability (panel)
Fundación Jiménez Díaz
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ILE-DE-FRANCE
PARIS
Biochemical diagnosis of X-linked adrenoleukodystrophy
CHU Paris Centre - Hôpital Cochin
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

ILE-DE-FRANCE
PARIS
Mass spectometry diagnosis of adrenoleukodystrophy (Analytes: phytanic and pristanic acid, very long chain C22-C26 fatty acids and plasmalogen phospholipids)
Faculté de Médecine Pierre et Marie Curie - Hôpital Saint-Antoine
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

OCCITANIE
MONTPELLIER
Biochemical diagnosis of X-linked adrenoleukodystrophy (dosage by GC/MS)
CHRU de Montpellier - Hôpital Lapeyronie
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

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

Hamburg
HAMBURG
Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
UKE - Universitätsklinikum Hamburg-Eppendorf
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Cataluña
BARCELONA
Diagnosis of X-linked adrenoleukodystrophy (gene ABCD1)
Hospital Clínic 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

LAZIO
ROMA
Biochemical diagnosis of X-linked adrenoleukodystrophy
IRCCS Ospedale Pediatrico Bambino Gesù
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

NORTE
PORTO
Biochemical and molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
CGMJM - Centro de Genética Médica Jacinto Magalhães
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

WIEN
WIEN
Biochemical and molecular diagnosis of X-linked Adrenoleukodystrophy (analysis of very long chain fatty acids, analysis of ALD-protein in skin fibroblasts, sequencing of ABCD1 gene)
Allgemeines Krankenhaus der Stadt Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Biochemical genetics
Objective(s)
: Sequence analysis: entire coding region, Analyte / Enzyme assay, Protein expression
Technique(s)
: Sanger sequencing, Immunohistochemistry

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

Dél-Dunántúl
PECS
Biochemical diagnosis of X-linked adrenoleukodystrophy
Department of Paediatrics - Clinical Center - University of Pécs
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

ATTIKI
ATHENS
Biochemical genetics diagnosis of X-linked adrenoleukodystrophy : quantitation of very long chain fatty acids
Institute of Child Health
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

Tartu
TARTU
Diagnosis of peroxisomal metabolism disorders : very long chain fatty acid analysis (GC/MS)
Tartu University Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

Østlandet
OSLO
Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
Oslo University Hospital, Ullevaal
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

South-West region
SOFIA
Biochemical diagnosis of X-linked adrenoleukodystrophy using GCMS analysis
University hospital of Obstetrics and Gynecology
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

TOSCANA
FIRENZE
Biochemical diagnosis of adrenoleukodystrophy, X-linked
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

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

MARCHE
JESI
Molecular diagnosis of male infertility with normal virilisation due to acquired testicular defect associated with mycoplasma infection
BIOAESIS
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

SLOVENIA
LJUBLJANA
Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
University Medical Centre Ljubljana
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
JERUSALEM
Molecular diagnosis of Adrenoleukodystrophy, ALD (ABCD1, Linkage analysis, PGD)
Shaare Zedek Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUXELLES
Biochemical analysis of phytanic acid and VLCFA in plasma by GC-MS
Université Libre de Bruxelles - ULB
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

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

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Biochemical diagnosis of X-linked adrenoleukodystrophy (VLCFA quantitative)
Cliniques Universitaires UCL de Saint Luc - UCLStLuc
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

Capital City Prague
PRAHA
Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
Charles University - First faculty of medicine
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Finland
UNIVERSITY OF TAMPERE
Molecular diagnosis of adrenomyeloneuropathy (ABCD1 gene: sequencing of exon 1)
University of Tampere
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

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

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of X-linked cerebral adrenoleukodystrophy (ABCD1 gene)
Laboratorio de Genética Clínica, S.L.
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

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

Madrid
MAJADAHONDA
Molecular diagnosis of X-linked adrenoleukodystrophy (sequencing of ABCD1 gene)
Genyca Innova
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Québec
SHERBROOKE
Biochemical analysis of phytanic acid and very long chain fatty acids in serum by GC/MS
CHU Sherbrooke - Hôpital Fleurimont
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

STEIERMARK
GRAZ
Biochemical (analysis of VLCFA) and molecular (ABCD1 gene) diagnosis of X-linked adrenoleukodystrophy
Medizinische Universität Graz
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

Bratislavsky kraj
BRATISLAVA
Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
University Hospital Bratislava - Stare mesto
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

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

Rabat
RABAT