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GERMANY

Baden-Württemberg
ULM

Accreditation Diagnosis of amyotrophic lateral sclerosis (C9ORF72, FUS, SOD1, TARDB, VAPB genes)
Universitätsklinikum Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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FINLAND

Finland
TURKU

Accreditation Diagnosis of amyotrophic lateral sclerosis with or without frontotemporal dementia ( C9ORF72 repeat analysis and SOD1 gene)
Turku University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

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AUSTRIA

STEIERMARK
GRAZ

Accreditation Diagnosis of amyotrophic lateral sclerosis (SOD1 gene)
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

OCCITANIE
NÎMES

Accreditation Diagnosis of amyotrophic lateral sclerosis (C9ORF72 gene)
CHU de Nîmes - Hôpital Carémeau
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation Molecular diagnosis of Amyotrophic Lateral Sclerosis type 1 (SOD1 gene)
Sheffield Children's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation Diagnosis of amyotrophic lateral sclerosis (gene panel)
UZ Leuven - Campus Gasthuisberg
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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NETHERLANDS

Utrecht
UTRECHT

Accreditation Molecular diagnosis of Amyotrophic Lateral Sclerosis type 1, 2, 4, 6, 8, 9, 10, 11, 14 and 15 (SOD1, ALS2, SETX, FUS, VAPB, ANG, TARDBP, FIG4, VCP and UBQLN2 gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Diagnosis of Amyotrophic Lateral Sclerosis (SETX and VCP gene)
Radboudumc - Radboud universitair medisch centrum
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

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UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation Molecular diagnosis of Amyotrophic Lateral Sclerosis (TARDBP gene: exon 6 sequencing)
Sheffield Children's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Sachsen
DRESDEN

Accreditation Diagnosis of amyotrophic lateral sclerosis (ALS2, ANG, CHCHD10, CHMP28, FUS, MATR3, SETX, SOD1, TARDBP, UBQLN2, VAPB, VCP genes)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of amyotrophic lateral sclerosis (NGS panel, 52 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NEU-ULM

Accreditation Diagnosis of familial amyotrophic lateral sclerosis (SOD1 gene)
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation Diagnosis of juvenile amyotrophic lateral sclerosis 4 (SETX gene)
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of amyotrophic lateral sclerosis (ANG, CHCHD10, C9ORF72, FIG4, FUS, SOD1, UBQLN2, TARDB, VAPB genes)
Medizinisch Genetisches Zentrum München
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, PCR based techniques, MLPA based techniques

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of amyotrophic lateral sclerosis (NGS screening panel, 52 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of amyotrophic lateral sclerosis (ANG, DCTN1, FIG4, TARDBP, VAPB)
MVZ Fenner & Krasemann
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation Molecular diagnosis of Amyotrophic Lateral Sclerosis - ALS (C9orf72 gene)
Sheffield Children's NHS Foundation Trust
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics

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UNITED KINGDOM

Greater London
LONDON

Accreditation Molecular diagnosis of Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (C9orf72 gene)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics

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GERMANY

Baden-Württemberg
FREIBURG

Accreditation Diagnosis of amyotrophic lateral sclerosis (ANG, CFIG4, C9ORF72, OPTN, SOD1, TARDBP, VABP 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

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Molecular diagnosis of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia (ALS and FTD, C9ORF72 gene: Molecular diagnosis through gene expansion analysis)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation Diagnosis of amyotrophic lateral sclerosis type 14 (VCP gene)
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of amyotrophic lateral sclerosis (SOD1, ANG, TARDBP, FUS, FIG4, VAPB genes)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of amyotrophic lateral sclerosis (ANG, CHMP2B, FIG4, FUS, OPTN, SOD1, TARDBP, VAPB genes: sequencing)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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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)

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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

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of mitochondrial diseases (Panel)
AP-HP.Sorbonne Université - Hôpital de la 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, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of frontotemporal dementia (Panel)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of amyotrophic lateral sclerosis (Panel)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Diagnosis of Dementia with or without ALS (gene panel)
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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques, Whole Exome Sequencing (WES)

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of amyotrophic lateral sclerosis (C9ORF72 gene)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation Diagnosis of familial amyotrophic lateral sclerosis (SOD1 gene)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation Diagnosis of amyotrophic lateral sclerosis (NGS screening panel: 34 genes)
Universitätsklinikum Aachen
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)

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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)

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FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation Diagnosis of distal and scapuloperal myopathy (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : Antenatal diagnosis, 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, PCR based techniques, MLPA based techniques

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FRANCE

OCCITANIE
NÎMES

Accreditation Diagnosis of amyotrophic lateral sclerosis and frontotemporal dementia (Panel)
CHU de Nîmes - Hôpital Carémeau
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)

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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)

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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Molecular diagnosis of Amyotrophic Lateral Sclerosis (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)

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GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation Diagnosis of spinal and bulbar muscular atrophy (NGS panel, 23 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)

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NETHERLANDS

Utrecht
UTRECHT

Accreditation Molecular diagnosis of Motor Neuron Disease (gene panel; NEM13v16.1)
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)

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ESTONIA

Tartu
TARTU

Accreditation Molecular diagnosis of amyotrophic lateral sclerosis (panel)
Asper Biogene
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Bayern
NEU-ULM

Accreditation Diagnosis of muscular diseases (NGS screening panel: 102 genes)
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of rare neurodegenerative diseases and movment disorder (NGS screening panel, 351 genes)
CeGaT GmbH
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)

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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Diagnosis of Amyotrophic Lateral Sclerosis (ANG, C9ORF72 (GGGGCC repeat analysis), FUS, SETX, SOD1, TARDBP and VCP gene)
Amsterdam UMC, locatie AMC
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, MLPA based techniques

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GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation Diagnosis of amyotrophic lateral sclerosis (NGS screening panel, 36 genes)
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) : NGS sequencing (except WES)

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SPAIN

Asturias
OVIEDO

Accreditation Diagnosis of dementia/amyotrophic lateral sclerosis (panel)
Hospital Universitario Central de Asturias
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)

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of amyotrophic lateral sclerosis (C9ORF72, SOD1 genes)
Hospital Universitari de Bellvitge
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

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BELGIUM

HAINAUT
GOSSELIES

Accreditation Diagnostic of rare neurodegenerative diseases (gene panel)
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)

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BELGIUM

OOST-VLAANDEREN
GENT

Accreditation Diagnosis of neuromuscular disorders (gene panel)
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Diagnosis of neuromuscular disorders (gene panel)
Erasme Hospital - ULB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation Diagnosis of amyotrophic lateral sclerosis/frontotemporal dementia with motor neuron disease (C9ORF72 gene; GGGGCC repeat expansion)
UZ Leuven - Campus Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation Diagnosis of amyotrophic lateral sclerosis and frontotemporal dementia (gene panel)
UZ Leuven - Campus Gasthuisberg
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)

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BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation Diagnosis of neuromuscular disorders (gene panel)
UZ Leuven - Campus Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Diagnosis of neuromuscular disorders (gene panel)
Universitair Ziekenhuis Brussel
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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ITALY

TRENTINO ALTO ADIGE
ROVERETO

Accreditation Diagnosis of amyotrophic lateral sclerosis [panel of genes]
MAGI'S LAB srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

OCCITANIE
NÎMES

Accreditation Diagnosis of Amyotrophic lateral sclerosis (SOD1 gene)
CHU de Nîmes - Hôpital Carémeau
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SWITZERLAND

Suisse Romande
GENÈVE

Accreditation Diagnosis of amyotrophic lateral sclerosis (C9ORF72 gene: hexanucleotide GGGGCC repeats)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation Diagnosis of neuromuscular diseases (Panel)
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of amyotrophic lateral sclerosis (SOD1 gene)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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UNITED KINGDOM

Greater London
LONDON

Accreditation Molecular diagnosis of Amyotrophic Lateral Sclerosis type 1 (SOD1 gene)
Guy's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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PORTUGAL

NORTE
PORTO

Accreditation Molecular diagnosis of amyotrophic lateral sclerosis, dominant (SOD1, SETX, FUS, VAPB, ANG, TARDBP genes): sequencing of the entire coding region for all genes and deletion/duplication analysis of SETX gene
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

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UNITED KINGDOM

Greater London
LONDON

Accreditation Molecular diagnosis of Amyotrophic Lateral Sclerosis 6 and 10 (FUS, TARDBP genes: Sequencing of the entire coding region of gene (s) / Testing for known mutations in family members)
Guy's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region

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PORTUGAL

NORTE
PORTO

Accreditation Molecular diagnosis of Dementia (NGS panel for MAPT, PGRN, VCP, PRNP, SCNA, SNCB, CHMP2B, FUS, TARDBP, PSEN1, PSEN2, APOE, APP genes: 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
Technique(s) : NGS sequencing (except WES)

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ITALY

PIEMONTE
TORINO

Molecular diagnosis of amyotrophic lateral sclerosis
A.O.U. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LIGURIA
GENOVA

Diagnosis of amyotrophic lateral sclerosis (SOD1, TARDBP, FUS, C9ORF72 genes)
IRCCS Ospedale Policlinico San Martino - IST - DIMI
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, PCR based techniques, MLPA based techniques

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ITALY

TOSCANA
PISA

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

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ITALY

EMILIA ROMAGNA
FERRARA

Diagnosis of amyotrophic lateral sclerosis (SOD1 gene)
A.O.U. Sant'Anna - Polo Chimico-Bio-Medico
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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FRANCE

CENTRE-VAL DE LOIRE
TOURS

Diagnosis of amyotrophic lateral sclerosis (SOD1, FUS, TARDBP, UBQLN2, OPTN, ANG genes: exons and flanking intronic regions sequencing ; C9ORF72 gene: hexanucleotide GGGGCC repeats)'
CHRU de Tours - Hôpital Bretonneau
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, PCR based techniques

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GERMANY

Nordrhein-Westfalen
KÖLN

Diagnosis of amyotrophic lateral sclerosis (FUS, SOD1, TARDBP, VAPB genes)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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ITALY

VENETO
COSTOZZA DI LONGARE

Diagnosis of amyotrophic lateral sclerosis [panel of genes]
B.I.R.D. Foundation
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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ITALY

LAZIO
ROMA

Molecular diagnosis of amyotrophic lateral sclerosis (SOD1 gene)
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of amyotrophic lateral sclerosis (ANG, CHGB, FIG4, FUS, OPTN, SOD1, TARDBP, UBQLN2, VAPB genes)
CENTOGENE GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of amyotrophic lateral sclerosis (ANG, C9ORF72, FIG4, FUS, OPTN, SOD1, VAPB, VCP genes)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Cataluña
BADALONA

Diagnosis of amyotrophic lateral sclerosis (TARDBP gene)
Instituto de Investigación Germans Trias i Pujol
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Andalucía
SEVILLA

Diagnosis of amyotrophic lateral sclerosis (SOD1 gene)
Hospital Universitario Virgen del Rocío
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

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SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of amyotrophic lateral sclerosis (panel)
Health in Code. Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

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GERMANY

Sachsen
DRESDEN

Diagnosis of amyotrophic lateral sclerosis (ANG, FIG4, FUS, SOD1, TARDBP, VAPB genes: sequencing)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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AUSTRIA

WIEN
WIEN

Diagnosis of amyotrophic lateral sclerosis (SOD1, ALS2, VAPB, and VCP genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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SPAIN

Cataluña
BADALONA

Diagnosis of amyotrophic lateral sclerosis (ATXN2 gene)
Instituto de Investigación Germans Trias i Pujol
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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SPAIN

La Rioja
LOGROÑO

Diagnosis of amyotrophic lateral sclerosis (FUS, SOD1 genes)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of amyotrophic lateral sclerosis (panel)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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ITALY

LOMBARDIA
MONZA

Molecular diagnosis of amyotrophic lateral sclerosis (SOD1, TARDBP, C9ORF72 genes)
ASST Monza - Ospedale San Gerardo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CANADA

Alberta
EDMONTON

Molecular Diagnosis of Amyotrophic Lateral Sclerosis (SOD1 sequencing, C9ORF72 repeats)
University of Alberta
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, PCR based techniques

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ITALY

MOLISE
POZZILLI

Molecular diagnosis of amyotrophic lateral sclerosis (SOD1 and C9ORF genes)
Istituto Neurologico Mediterraneo - IRCCS Neuromed
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) : Sanger sequencing, PCR based techniques

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SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of amyotrophic lateral sclerosis (ANG, C9ORF72, SOD1, TARDBP genes)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

CENTRE-VAL DE LOIRE
TOURS

Diagnosis of amyotrophic lateral sclerosis (Panel)
CHRU de Tours - Hôpital Bretonneau
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of amyotrophic lateral sclerosis (ALS2, SOD1, SETX, and TARDBP genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

VENETO
PADOVA

Molecular diagnosis of amyotrophic lateral sclerosis [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)

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SPAIN

Cataluña
BARCELONA

Diagnosis of amyotrophic lateral sclerosis with/without frontotemporal dementia (C9ORF72 gene)
Hospital de la Santa Creu i Sant Pau
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
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

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SPAIN

Cataluña
BARCELONA

Diagnosis of amyotrophic lateral sclerosis (SOD1 gene)
Hospital de la Santa Creu i Sant Pau
Purpose(s) : 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

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SPAIN

Cataluña
BARCELONA

Diagnosis of amyotrophic lateral sclerosis (panel)
Hospital de la Santa Creu i Sant Pau
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
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

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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)

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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)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of muscular 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)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of bone dysplasia (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)

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SPAIN

Galicia
A CORUÑA

Diagnosis of amyotrophic lateral sclerosis and frontotemporal dementia with motor neuron disease (C9ORF72 gene)
Health In Code. A Coruña
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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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)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of inherited cancer-predisposing syndrome (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)

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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)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of immunodeficiency (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)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of congenital deafness (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)

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of amyotrophic lateral sclerosis (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)

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SPAIN

Madrid
TRES CANTOS

Diagnosis of amyotrophic lateral sclerosis (panel - 49 genes)
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)

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SPAIN

Galicia
A CORUÑA

Diagnosis of neuromuscular diseases (panel - 264 genes)
Health In Code. A Coruña
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)

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SPAIN

Galicia
A CORUÑA

Diagnosis of primary or amyotrophic lateral sclerosis (panel - 28 genes)
Health In Code. A Coruña
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)

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ITALY

EMILIA ROMAGNA
FERRARA

Diagnosis of neuromuscular diseases [panel of genes]
A.O.U. Sant'Anna - Polo Chimico-Bio-Medico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of amyotrophic lateral sclerosis (C9ORF72, TARDBP and SOD1 genes)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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ITALY

LOMBARDIA
MILANO

Molecular diagnosis of amyotrophic lateral sclerosis (SOD1, ALS2, SETX, FUS, VAPB, ANG, TDP43, FIG4 genes)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LOMBARDIA
MILANO

Molecular diagnosis of amyotrophic lateral sclerosis (SOD1,ANG, DCTN, PGN, TARBDP, FUS, SETX, ALS2, VCP, C9ORF72 genes)
ASST Grande Ospedale Metropolitano Niguarda
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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ITALY

TOSCANA
PISA

Molecular diagnosis of amyotrophic lateral sclerosis (SOD1 gene)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

CALABRIA
MANGONE

Molecular diagnosis of amyotrophic lateral sclerosis (SOD1 gene)
CNR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

SARDEGNA
CAGLIARI

Molecular diagnosis of amyotrophic lateral sclerosis (SOD1, TARDBP, FUA, C9ORF72 genes)
Ospedale "R. Binaghi"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of amyotrophic lateral sclerosis 1 (SOD1 gene)
Allgemeines Krankenhaus der Stadt Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

EMILIA ROMAGNA
BOLOGNA

Molecular diagnosis of amyotrophic lateral sclerosis
IRCCS Policlinico Sant'Orsola
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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NORWAY

Østlandet
OSLO

Molecular diagnosis of amyotrophic lateral sclerosis (SOD1 gene)
Oslo University Hospital, Ullevaal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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BELGIUM

ANTWERPEN
ANTWERPEN

Diagnosis of amyotrophic lateral sclerosis (FUS, SOD1, TARDBP, VCP genes; C9ORF72 repeat)
University of Antwerp - UA, Campus Drie Eiken
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

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ISRAEL

ISRAEL
HOLON

Molecular diagnosis of amyotrophic lateral sclerosis, ALS1 (SOD1, sequencing analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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PORTUGAL

SUL
LISBOA

Molecular diagnosis of Amyotrophic lateral sclerosis (SOD1, FUS and TARDBP genes): sequencing of the entire coding region.
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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FINLAND

Finland
TAMPERE

Diagnosis of amyotrophic lateral sclerosis (C9orf72 gene: mutation analysis; SOD1, TARDBP, VAPB genes: complete sequencing)
TAYS - Tampere University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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ITALY

LOMBARDIA
PAVIA

Molecular diagnosis of amyotrophic lateral sclerosis (ANG, UBQLN2, C9orf72 genes)
Fondazione Istituto Neurologico "C. Mondino" - IRCCS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

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GERMANY

Nordrhein-Westfalen
AACHEN

Reference Centre for neuromuscular diseases: neuropathological, molecular analysis and electronic microscopy of muscle, nerv and skin biopsies
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics, Immunology, Pathology
Objective(s) : Analyte / Enzyme assay

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GERMANY

Nordrhein-Westfalen
BONN

Histological, histochemical, biochemical and molecular genetic diagnostics of neuromuscular diseases
Universitätsklinikum Bonn (AöR)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics, Pathology
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

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SPAIN

Madrid
MADRID

Diagnosis of amyotrophic lateral sclerosis (SOD1, SETX, TARDBP, ANG, FUS, PFN1, UBQLN2, OPTN, C9ORF72 genes)
Hospital Universitario 12 de Octubre
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, PCR based techniques

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ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of amyotrophic lateral sclerosis (sequence analysis of the entire coding region of VAPB, SOD1, SETX genes)
Università degli Studi di Padova- Polo A.Vallisneri
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of Amyotrophic lateral sclerosis (SOD1, ALS2, ATXN2, C9ORF72, DCTN1, SETX, FUS, VAPB, ANG, TARDBP, FIG4, OPTN, and VCP genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

TOSCANA
FIRENZE

Molecular diagnosis of amyotrophic lateral sclerosis (SOD1, TARDBP genes)
AOU Careggi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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FINLAND

Finland
TAMPERE

Molecular diagnosis of Paget disease of bone (PDB) and amyotrophic lateral sclerosis 17 (ALS17) (SQSTM1 gene: sequencing of the coding region)
TAYS - Tampere University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Comunidad Valenciana
VALENCIA

Diagnostic of amyotrophic lateral sclerosis (FIG4 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

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HUNGARY

Dél-Alföld
SZEGED

Amyotrophic lateral sclerosis
University of Szeged Deparment of Medical Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

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PORTUGAL

NORTE
PORTO

Diagnosis of Amyotrophic lateral sclerosis (SOD1 gene)
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

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FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of amyotrophic lateral sclerosis (analyte: neurofilaments light chains in serum)
CHU de Montpellier - Hôpital Saint-Eloi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Other

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