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GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation
Diagnosis of neurodegeneration with brain iron accumulation (PANK2, PLA2G6 genes)
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Neurodegeneration With Brain Iron Accumulation 1 by sequencing of the entire coding region of gene plus copy number analysis (PANK2 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Neurodegeneration with brain iron accumulation 3 by sequencing of selected exons (FTL gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons

NETHERLANDS

Groningen
GRONINGEN

Accreditation
Molecular diagnosis of Pantothenate Kinase-Associated Neurodegeneration (PANK2 gene)
UMCG - Universitair Medisch Centrum Groningen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation
Molecular diagnosis of Neuroferritinopathy (Neurodegeneration with brain iron accumulation) (FTL gene: targeted mutation analysis / Testing for known mutations in family members)
Newcastle upon Tyne Hospitals NHS Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Molecular diagnosis of Infantile neuroaxonal dystrophy - INAD (PLA2G6 gene)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Diagnosis of neurodegeneration with brain iron accumulation (PANK2 gene)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation
Diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Hamburg
HAMBURG

Accreditation
Diagnosis of aceruloplasminemia (CP gene)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Molecular diagnosis of Infantile neuroaxonal dystrophy (PLA2G6 gene)
Universitair Ziekenhuis Brussel - UZ Brussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Accreditation
Molecular diagnosis of neuroferritinopathy (FTL gene): Sequencing of entire coding region
Instituto de Biologia Molecular e Celular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation
Diagnosis of pantothenate kinase-associated neurodegeneration (PANK2 gene)
Genetica AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES)

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Diagnosis of Neuroferritinopathy (FTL gene)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Diagnosis of pantothenate kinase-associated neurodegeneration (PANK2 gene)
Institut de Pathologie et de Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Diagnosis of neurodegeneration with brain iron accumulation (PANK2, PLA2G6 genes: sequencing, MLPA)
Bioscientia Institut für Medizinische Diagnostik 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

NETHERLANDS

Groningen
GRONINGEN

Accreditation
Molecular diagnosis of Infantile Neuroaxonal Dystrophy (PLA2G6 gene)
UMCG - Universitair Medisch Centrum Groningen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Diagnosis of neurodegeneration with brain iron accumulation (PANK2 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 of Movement 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)

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
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)

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Intellectual Disability (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)

PORTUGAL

NORTE
PORTO

Accreditation
Molecular diagnosis of pantothenate-kinase-associated neurodegeneration (PANK2 gene: sequencing of entire coding region and deletion/duplication analysis by MLPA)
Instituto de Biologia Molecular e Celular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

PORTUGAL

NORTE
PORTO

Accreditation
Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene: sequencing of entire coding region and deletion/duplication analysis by MLPA)
Instituto de Biologia Molecular e Celular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

PORTUGAL

NORTE
PORTO

Accreditation
Molecular diagnosis of neuroferritinopathy disease, NBIA3, (FTL gene): sequencing of the entire coding region
Instituto de Biologia Molecular e Celular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of AR Hereditary Spastic Paraplegia NGS Panel (34 genes)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Array based techniques

GERMANY

Sachsen
WEIßWASSER

Accreditation
Diagnosis of aceruloplasminemia (CP gene)
Praxis Dr. Mato Nagel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Neurodegeneration With Brain Iron Accumulation 2Aby sequencing of the entire coding region of gene plus copy number analysis - NBIA2A (PLA2G6 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Diagnosis of Kufor-Rakeb syndrome (ATP13A2 gene)
Synlab MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Diagnosis of Neuroferritinopathy (FTL gene)
Synlab MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Diagnosis of neurodegeneration with brain iron accumulation (PANK2, PLA2G6 genes)
Synlab MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Diagnosis of aceruloplasminemia (CP gene)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of Dystonia/Dyskinesia (NGS screening panel, 37 genes)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Heterozygote screening by NGS Inherited Disease Panel (Kingsmore panel)
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

Nordrhein-Westfalen
DORTMUND

Accreditation
Diagnosis of neurodegeneration with brain iron accumulation (PANK2 gene)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
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

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of aceruloplasminemia (CP gene)
Pränatalmedizin München
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 of Kufor-Rakeb Syndrome (ATP13A2 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

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Diagnosis of Neurodegeneration with Brain Iron Accumulation type 1 and 5 (PANK2 and WDR45 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

GERMANY

Hamburg
HAMBURG

Accreditation
Diagnosis of Neuroferritinopathy (FTL gene)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of Dystonia-parkinsonism, Paisan-Ruiz type (PLA2G6 gene: sequencing / MLPA)
Pränatalmedizin München
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

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of Woodhouse-Sakati syndrome (DCAF17 gene)
Pränatalmedizin München
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

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of neurodegeneration with brain iron accumulation (FTL, PANK2 PLA2G6 genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation
Diagnosis of neurodegeneration with brain iron accumulation (Panel)
CHU de Bordeaux-GH Pellegrin
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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation
Diagnosis of intellectual disability (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), Sanger sequencing

FRANCE

GRAND-EST
STRASBOURG

Accreditation
Diagnosis of intellectual disability (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)

FRANCE

NORMANDIE
ROUEN

Accreditation
Diagnosis of intellectual disability (Panel)
CHU de Rouen
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of ataxia, spastic paraplegia and related neurodegenerative diseases (Panel)
IURC - Institut Universitaire de Recherche Clinique
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

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of corpus callosum agenesis or dysgenesis syndrome (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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
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)

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of neurodegeneration with brain iron accumulation (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of dystonia (Panel)
CHU de Marseille - Hôpital de la Timone
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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of intellectual disability (Panel)
CHU de Marseille - Hôpital de la Timone
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

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation
Diagnosis of mitochondrial diseases (Panel)
CHU de Nice - Hôpital l'Archet 2
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

FRANCE

PAYS DE LA LOIRE
ANGERS

Accreditation
Diagnosis of Charcot-Marie-Tooth disease (Panel)
CHU d'Angers
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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

FRANCE

PAYS DE LA LOIRE
ANGERS

Accreditation
Diagnosis of optic neuropathy (Panel)
CHU d'Angers
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

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of parkinsonian disorder (Panel)
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, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

FRANCE

BRETAGNE
RENNES

Accreditation
Diagnosis of iron metabolism disoders (Panel)
CHU de Rennes - Hôpital Pontchaillou
Purpose(s) : 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) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of familial spastic paraplegia (NGS screening panel, 86 genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Dementia (gene panel)
Amsterdam UMC, locatie VUmc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Kufor-Rakeb Syndrome (ATP13A2 gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Beta-Propeller Protein-Associated Neurodegeneration (WDR45 gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of Kufor-Rakeb syndrome (ATP13A2 gene)
Pränatalmedizin München
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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of rare parkinsonian syndrome due to genetic neurodegenerative disease (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Parkinson (gene panel)
Amsterdam UMC, locatie VUmc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Neurodegeneration with Brain Iron Accumulation (gene panel)
Amsterdam UMC, locatie VUmc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of neurodegeneration with brain iron accumulation (C19ORF12, FA2H, PANK2, PLA2G6 genes)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of fatty acid hydroxylase-associated neurodegeneration (FA2H gene)
Pränatalmedizin München
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

FRANCE

AUVERGNE-RHONE-ALPES
SAINT-PRIEST-EN-JAREZ

Accreditation
Diagnosis of intellectual disability (Panel ID44)
CHU de Saint-Etienne - Hôpital Nord
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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of neurodegeneration with brain iron accumulation (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of hereditary spastic paraplegia (NGS screening panel, 55 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of neurogenetic and neuromuscular diseases (NGS panel - 291 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of intellectual disabilities (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
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

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of intellectual disability (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)

FRANCE

BRETAGNE
BREST

Accreditation
Diagnosis of intellectual disability (Panel)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

ESTONIA

Tartu
TARTU

Accreditation
Molecular diagnosis of hereditary spastic paraplegia (panel)
Asper Biogene
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Autosomal Recessive Spastic Paraplegia (gene panel; NEM17v16.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of hereditary spastic paraplegia (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)

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Diagnosis of Epilepsy (gene panel)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of rare parkinsonian disorder (ATP13A2, GCH1, LRRK2, PARK7, PINK1, PRKN, SNCA, UCHL1 genes)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Madrid
MAJADAHONDA

Accreditation
Diagnosis of rare genetic intellectual disability
Instituto de Salud Carlos III. Campus de Majadahonda
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

FRANCE

NORMANDIE
CAEN

Accreditation
Diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
CHU de Caen - Hôpital de la Côte de Nacre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of intellectual disability (Panel ID44)
Centre de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

PAYS DE LA LOIRE
NANTES

Accreditation
Diagnosis of intellectual disability (Medical exome)
CHU de Nantes - Institut de Biologie
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Vision 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)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of hereditary iron overload disease (Panel)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of intellectual disability and autism spectrum disorder (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Diagnosis of Hereditary Hypoceruloplasminemia (CP 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

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Diagnosis of Infantile Neuroaxonal Dystrophy (PLA2G6 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

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of mitochondrial disorders
Hôpital Necker-Enfants Malades
Purpose(s) : Antenatal diagnosis, Pre-implantation 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, PCR based techniques

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of aceruloplasminemia (CP gene: sequencing)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of neurodegeneration with brain iron accumulation (C19ORF12, COASY, PLA2G6, PANK2, FTL genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of Dystonia-parkinsonism, Paisan-Ruiz type (PLA2G6 gene)
CeGaT 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

GERMANY

Baden-Württemberg
SINGEN /HTWL.

Accreditation
Diagnosis of Neuroferritinopathy (FTL gene)
Institut für Laboratoriumsmedizin und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of beta-propeller protein-associated neurodegeneration (WDR45 gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Hereditary Ceruloplasmin Deficiency (CP gene)
Amsterdam UMC, locatie VUmc
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
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of Kufor-Rakeb syndrome (ATP13A2 gene)
CeGaT 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

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of fatty acid hydroxylase-associated neurodegeneration (FA2H gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

CANADA

Ontario
LONDON

Accreditation
Molecular Diagnosis of Genetic Hyperferritinemia NGS Panel (15 genes)
London Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of congenital hypogonadotropic hypogonadism (Panel)
CHU Paris - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of disorder of copper metabolism (Panel)
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Lariboisière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

ITALY

TOSCANA
PISA

Diagnosis of spastic paraplegia [panel of genes]
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

ITALY

LAZIO
ROMA

Molecular diagnosis of Hallervorden-Spatz disease (PANK2 gene)
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of neurodegeneration with brain iron accumulation (PANK2 gene)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of pantothenate kinase-associated neurodegeneration (PANK2 gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Diagnosis of neurodegeneration with brain iron accumulation (ATP13A2, C19ORF12, FA2H, FTL, PANK2, PLA2G6 genes)
Institut für Humangenetik der TU München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Diagnosis of Parkinson disease (ATP13A2, C19ORF12, PARK7, PINK1, PLA2G6 genes)
Institut für Humangenetik der TU München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
Institut für Humangenetik der TU München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

LAZIO
ROMA

Molecular diagnosis of pantothenate-kinase associated neurodegeneration (PANK2 gene)
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MONZA

Molecular diagnosis of aceruloplasminemia (CP gene)
Azienda Ospedaliera San Gerardo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of neurodegeneration with brain iron accumulation (FA2H- PANK2, PLA2G6 genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of aceruloplasminemia (genotyping, complete mutation screening of the 20 exons and promoteur of CP gene)
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Lariboisière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of Neuroferritinopathy (FTL gene)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Andalucía
MÁLAGA

Diagnosis of pantothenate kinase-associated neurodegeneration (PANK2 gene)
IMEGEN - Delegación Málaga
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) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene: sequencing / MLPA)
Centogene AG
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

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of Dystonia-parkinsonism, Paisan-Ruiz type (PLA2G6 gene: sequencing / MLPA)
Centogene AG
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

ITALY

LOMBARDIA
MONZA

Molecular diagnosis of neuroferritinopathy (FTL gene)
Azienda Ospedaliera San Gerardo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of pantothenate-kinase-associated neurodegeneration (PANK2 gene)
IMEGEN - Delegación Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of aceruloplasminemia (CP gene)
IMEGEN - Delegación 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

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of PLA2G6-associated neurodegeneration (PLA2G6 gene)
IMEGEN - Delegación Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of neurodegeneration with brain iron accumulation (PANK2, FTL, and PLA2G6 genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Neuroferritinopathy (FTL gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of rare genetic Parkinson syndromes (ATP1A3, DCTN1, LRRK2, PRKN, PLA2G6, and SLC20A2 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

La Rioja
LOGROÑO

Diagnosis of pantothenate kinase-associated neurodegeneration (PANK2 gene / mutations C282Y, H63D, S65C)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of pantothenate-kinase-associated neurodegeneration (PANK2 gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of Kufor-Rakeb syndrome (ATP13A2 gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of dystonia-parkinsonism, Paisan-Ruiz type (PLA2G6 gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene / sequencing)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of pantothenate-kinase-associated neurodegeneration (PANK2 gene / sequencing, MLPA)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of neuroferritinopathy (FTL gene / sequencing)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of neuroferritinopathy (FTL gene)
IMEGEN - Delegación Málaga
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Hereditary hyperferritinemia with/without congenital cataracts (FTL 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

GERMANY

Sachsen
DRESDEN

Diagnosis of neurodegeneration with brain iron accumulation (FTL, PANK2, PLA2G6, WDR45 genes)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal 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

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
IMEGEN - Delegación Málaga
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Neurodegeneration with brain iron accumulation type 4 (C19ORF12 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
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of aceruloplasminemia (CP gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of aceruloplasminemia (CP gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of adult-onset dystonia-parkinsonism (PLA2G6 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of Kufor-Rakeb syndrome (ATP13A2 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

HUNGARY

Közép-Magyarország
BUDAPEST

Molecular diagnosis of aceruloplasminaemia (CP gene)
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

HUNGARY

Közép-Magyarország
BUDAPEST

Molecular diagnosis of iron accumulation in brain (BPAN, COASY, MPAN, PLANK2 and PLA2G6 genes)
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Purpose(s) : 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

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of pantothenate kinase-associated neurodegeneration (PANK2 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

FRANCE

NOUVELLE AQUITAINE
POITIERS

Diagnosis of intellectual disability (Panel ID44)
CHU de Poitiers
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

NOUVELLE AQUITAINE
POITIERS

Diagnosis of intellectual disability (Panel ID275)
CHU de Poitiers
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

Comunidad Valenciana
ELCHE

Diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of infantile neuroaxonal dystrophy (PLA2G6 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

GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of neurodegeneration with brain iron accumulation (PANK2, PLA2G6 genes)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of constitutional anemia due to iron metabolism disorder (gene panel)
BLOODGENETICS S.L
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of neuroferritinopathy (FTL gene)
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Lariboisière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Madrid
MADRID

Diagnosis of pantothenate kinase-associated neurodegeneration (PANK2 gene)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Neurodegeneration with brain iron accumulation type 4 (C19ORF12 gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Madrid
MADRID

Diagnosis of hereditary spastic paraplegia (panel)
Hospital Universitario 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)

ITALY

VENETO
PADOVA

Molecular diagnosis of rare parkinsonian disorders [panel of genes]
Research&Innovation S.r.l. (R&I Genetics)
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
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

ITALY

VENETO
PADOVA

Molecular diagnosis of intellectual disability syndromes [panel of genes]
Research&Innovation S.r.l. (R&I Genetics)
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
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of autosomal recessive spastic paraplegia (panel)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of ataxia (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic 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)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of neurotransmitter defects and related diseases (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic 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)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of Rett syndrome and epilepsy (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic 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)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of mitochondrial disorders due to nuclear DNA anomalies (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic 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)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of intellectual disability (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic 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)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of epilepsy (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of congenital cataracts (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

ITALY

CALABRIA
MANGONE

Molecular diagnosis of Hallervorden-Spatz disease (CP, FTL, PANK2, PLA2G6 genes)
CNR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

CENTRO
BRAGA

Molecular diagnosis of Neuroferritinopathy (FTL gene)
Universidade do Minho
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NORWAY

Østlandet
OSLO

Molecular diagnosis of Hallervorden-Spatz disease (PANK2 gene)
Oslo University Hospital, Ullevaal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CZECH REPUBLIC

Capital City Prague
PRAHA

Molecular diagnosis of neurodegeneration with brain iron accumulation (PANK2 gene)
Motol university hospital - 2nd Medical School Charles University Prague
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Lodz
LODZ

Molecular diagnosis of Hallervorden-Spatz syndrome (PANK2 gene)
Centralny Szpital Kliniczny
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

CALABRIA
MANGONE

Molecular diagnosis of pantothenate-kinase-associated neurodegeneration (PANK2 gene)
CNR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

CALABRIA
MANGONE

Molecular diagnosis of neuroferrinopathies (FTL and FTH genes)
CNR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
BONN

Diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
Institut für Klinische Genetik Bonn
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of aceruloplasminemia (CP gene)
LabGenetics - 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
Technique(s) : Sanger sequencing

PORTUGAL

NORTE
PORTO

Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene): analysis of the entire coding region
CGMJM - Centro de Genética Médica Jacinto Magalhães
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
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) : Sanger sequencing

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of pantothenate-kinase-associated neurodegeneration (PANK2 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, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of neuroferritinopathy (FTL gene)
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of neurodegeneration with brain iron accumulation (PANK2, PLA2G6 genes)
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of aceruloplasminemia (CP gene)
King's College Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
VALENCIA

Diagnostic of mitochondrial membrane protein-associated neurodegeneration (C19ORF12 gene)
Centro de Investigación Príncipe Felipe (CIPF)
Purpose(s) : Post-natal diagnosis, Somatic genetics
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, PCR based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnostic of pantothenate kinase-associated neurodegeneration (PANK2 gene)
Centro de Investigación Príncipe Felipe (CIPF)
Purpose(s) : Post-natal diagnosis, Somatic genetics
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, PCR based techniques

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of neuroferritinopathy (FTL gene - mutation screening of c.460_461insA)
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

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of fatty acid hydroxylase-associated neurodegeneration (FA2H 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

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of beta-propeller protein-associated neurodegeneration (WDR45 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

SPAIN

Cataluña
BADALONA

Diagnosis of rare parkinsonian disorder (ATP13A2, DJ1, LRRK2, PARK2, PINK1, SNCA, UCHL1 genes)
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Woodhouse-Sakati syndrome (DCAF17 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

SPAIN

Cataluña
BARCELONA

Diagnosis of inherited visual disorders
Universitat de Barcelona. Facultat de Biologia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

SPAIN

La Rioja
LOGROÑO

Diagnosis of pantothenate kinase-associated neurodegeneration (PANK2 gene)
Hospital San Pedro
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of hemochromatosis (panel)
LabGenetics - 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
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of genetic motor neuron disease (panel)
LabGenetics - 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
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of neurodegeneration with brain iron accumulation (panel)
LabGenetics - 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
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of dystonia (panel)
LabGenetics - 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
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of hereditary spastic paraplegia (panel)
LabGenetics - 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
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of rare genetic parkinsonian disorder (panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of early-onset ataxies and pontocereous hypoplasias (Panel)
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Madrid
TRES CANTOS

Diagnosis of neurodegeneration with brain iron accumulation (panel)
Centro de estudios genéticos ATG Medical
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
TRES CANTOS

Diagnosis of Parkinson disease and frontotemporal dementia (panel)
Centro de estudios genéticos ATG Medical
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
TRES CANTOS

Diagnosis of rare parkinsonian disorder (panel)
Centro de estudios genéticos ATG Medical
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)