x

Search for a diagnostic test

* (*) mandatory field

100 Result(s)

Filter by

Speciality(ies)/objective(s)

Technique(s)

Purpose(s)

Quality management

Country(ies)

Reset
Sort by

Caption : Accreditation =Accreditation
;

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Accreditation
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

BELGIUM

LIEGE
LIEGE

Accreditation
Molecular diagnosis of Adrenoleukodystrophy (ABCD1 gene)
CHU de LIEGE - UniLab Lg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Adrenoleukodystrophy (ABCD1 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Noord-Holland
AMSTERDAM

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

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
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
Technical procedure(s) : Sanger sequencing

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

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
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
Technical procedure(s) : Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
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
Technical procedure(s) : Sanger sequencing

SWITZERLAND

Suisse Alémanique
ZÜRICH

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

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
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
Technical procedure(s) : Sanger sequencing

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)

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

Hamburg
HAMBURG

Accreditation
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
Technical procedure(s) : Sanger sequencing

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 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
Technical procedure(s) : Sanger sequencing

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 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

GERMANY

Bayern
MÜNCHEN

Accreditation
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
Technical procedure(s) : Sanger sequencing, MLPA based techniques

GERMANY

Hamburg
HAMBURG

Accreditation
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
Technical procedure(s) : Sanger sequencing, MLPA based techniques

UNITED KINGDOM

Merseyside
LIVERPOOL

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

FRANCE

MIDI-PYRENEES
TOULOUSE

Accreditation
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

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
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

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
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

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
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

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

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation
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

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 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
Technical procedure(s) : Immunohistochemistry

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

UNITED KINGDOM

West Yorkshire
LEEDS

Accreditation
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

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

CANADA

Ontario
KINGSTON

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

FRANCE

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

FRANCE

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
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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

GERMANY

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
Technical procedure(s) : Sanger sequencing

ITALY

SARDEGNA
CAGLIARI

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

ITALY

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

FRANCE

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

ITALY

LAZIO
ROMA

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

DENMARK

Hovedstaden
COPENHAGEN

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

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

ITALY

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

ESTONIA

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

NORWAY

Østlandet
OSLO

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

SPAIN

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

SPAIN

Cataluña
BARCELONA

Preimplantation genetic diagnosis of the X-linked adrenoleukodystrophy. ABCD1 gene
Reprogenetics Spain S.A.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics

SPAIN

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
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

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) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

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
Technical procedure(s) : MLPA based techniques

POLAND

Warszawa
WARSAW

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

ITALY

LAZIO
ROMA

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

FRANCE

LANGUEDOC-ROUSSILLON
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

CANADA

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

SPAIN

Cataluña
BARCELONA

Preimplantation genetic diagnosis of X-linked cerebral adrenoleukodystrophy (ABCD1 gene)
CME Barcelona
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

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

POLAND

Warszawa
WARSAW

Molecular diagnosis of adrenoleukodystrophy (ABCD1 gene)
MEDGEN
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

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
Technical procedure(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of X-linked adrenoleukodystrophy (ABCD1 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)

SPAIN

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
Technical procedure(s) : Sanger sequencing, MLPA based techniques

FRANCE

ALSACE
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
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

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
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

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

FRANCE

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

FRANCE

LANGUEDOC-ROUSSILLON
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

ITALY

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

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

SPAIN

Cataluña
BARCELONA

Biochemical and molecular diagnosis of X-linked adrenoleukodystrophy (XALD). Gene ABCD1.
Hospital Clínic de Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

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

PORTUGAL

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

AUSTRIA

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
Technical procedure(s) : Sanger sequencing, Immunohistochemistry

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

HUNGARY

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

GREECE

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

BULGARIA

 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

ITALY

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

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

SLOVENIA

SLOVENIA
LJUBLJANA

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

ISRAEL

ISRAEL
JERUSALEM

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

BELGIUM

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

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

BELGIUM

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

CZECH REPUBLIC

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

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

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

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Molecular diagnosis of X-linked cerebral adrenoleukodystrophy (MLPA analysis of deletions and entire coding sequence of ABCD1 gene)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques

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

SPAIN

Madrid
MAJADAHONDA

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

AUSTRIA

STEIERMARK
GRAZ

Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

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

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

MOROCCO

Rabat
RABAT

Molecular diagnosis of male infertility due to Y chromosome deletions (AZF)
Institut National d'Hygiène
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

CANADA

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