Diagnostic Tests

Clinical exome sequencing for rare neurological diseases

Diagnostic tests Centre of expertise Facility Contact person
Clinical exome sequencing Ljubljana, Slovenia Clinical Institute of Medical Genetics Borut Peterlin
Clinical exome sequencing
(Ataxia, HSP, Parkinsonism)
Nijmegen, Netherlands Genome diagnostics Nijmegen Dr. Erik-Jan Kamsteeg

Ataxias

Diagnostic tests Centre of expertise Facility Contact person
Genetic test SCA, FA, FXTAS Czech Republic, Prague Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital Zuzana Mušová
Genetic tests France, Angers CHU d’Angers, Département de Biochimie Génétique Dr Marie-Claire Malinge
Pr Vincent Procaccio
Genetic tests France, Montpellier Institut Universitaire de Recherche Clinique (IURC), Laboratoire de Génétique Moléculaire Pr Michel Koenig
Claire Guissart
Genetic tests France, Paris Hôpital Pitié-Salpêtrière, UF de Neurogénétique Moléculaire et Cellulaire Dr Cécile Cazeneuve
Dr Guillaume Banneau
Dr Fabienne Clot
Genetic tests France, Paris Hôpital Trousseau, Laboratoire de neurogénétique moléculaire Dr Lydie Burglen
Genetic tests France, Lyon CHU de Lyon HCL - GH Est - UF de neurogénétique moléculaire Muriel Bost
Philippe Latour
Genetic tests France, Lille CHRU de Lille - Centre de Biologie Pathologie Génétique - UF Génopathies Isabelle Strubi-Vuillaume
Bernard Sablonnière
Genetic tests France, Paris CHU Paris-GH St-Louis Lariboisière F-Widal - Hôpital Lariboisière - Service de Génétique Moléculaire Neuro-vasculaire Elisabeth Tournier-Lasserve
Florence Riant
Genetic tests France, Poitiers CHU de Poitiers - Laboratoire de génétique Pr Alain Kitzis
Genetic tests France, Toulouse CHU de Toulouse - Hôpital Purpan - Service de génétique médicale Pr Patrick Calvas
Genetic tests France, Tours CHRU de Tours - Hôpital Bretonneau - Laboratoire de Génétique Moléculaire Dr Martine Raynaud
chromosomal analyses, array CGH, Sanger sequencing Germany, Lübeck Institute of Human Genetics Prof. G. Gillessen-Kaesbach
Panel NGS Germany, Tübingen Department of Human Genetics Tübingen Prof. Olaf Riess
Genetic test SCA, FA Greece, Athens Aiginiteion Hospital mpanas@med.uoa.gr
Genetic tests Hungary, Pecs ABI 3500, 3130 Dr. Berenténé,
Dr. Bene Judit,
Dr.Czakó Márta
Genetic tests, Ataxia gene panel Italy, Milan IRCCS-Neurological Institute Carlo Besta; Unit of Genetic of Neurodegenerative and Metabolic disorders. Franco Taroni
Cinzia Gellera
Genetic tests, Ataxia gene panel Italy, Rome Bambino Gesù Children’s Hospital, IRCCS
Department of Neurosciences
Unit of Neuromuscular and Neurodegenerative Disorders
Dr. Ginevra Zanni
Dr. Enrico Bertini
Prof Federico Vigevano
Genetic test Italy, Siena Medicina Molecolare-Genetica clinica Dr. Vincenzo Orrico
Genetic test Italy, Siena Clinica Neurologica e Malattie Neurometaboliche
Università di Siena
Prof. Antonio Federico
Clinical exome sequencing Netherlands, Nijmegen Genome diagnostics Nijmegen Dr. Erik-Jan Kamsteeg
Requests via:
www.genomediagnosticsnijmegen.nl
Ataxia gene panel Norway, Oslo Oslo University Hospital, dep of med genetics C. Tallaksen
Genetic tests, Ataxia gene panel (up to 70 genes) London, UK Neurogenetics Laboratory national Hospital for Neurology and Neurosurgery (NHNN) Prof Henry Houlden,
p.giunti@ucl.ac.uk

Chorea

Diagnostic tests Centre of expertise Facility Contact person
Genetic tests Czech Republic, Prague Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague Ivan Hrdlička
Genetic tests France, Bicêtre Hôpital du Kremlin-Bicêtre, Bicêtre Pr Guiochon-Mantel
Genetic tests France, Paris Hôpital Pitié-Salpêtrière, UF de Neurogénétique Moléculaire et Cellulaire - Paris
U de Poitiers - Laboratoire de génétique
Dr Cécile Cazeneuve, Dr Guillaume Banneau, Dr Fabienne Clot
Genetic tests France, Paris Hôpital Trousseau, Laboratoire de biochimie et biologie moléculaire - Paris Dr Remy Couderc
Genetic tests France, Strasbourg Nouvel Hôpital Civil, Laboratoire de diagnostic génétique - Strasbourg Pr Jean-Louis Mandel
Genetic tests Germany, Lübeck Institute of Human Genetics Prof. G. Gillessen-Kaesbach
Genetic tests Germany, Tübingen Department of Human Genetics Tübingen Prof. Olaf Riess
Genetic tests Greece, Athens Aiginiteion Hospital mpanas@med.uoa.gr
Genetic tests Hungary, Pecs ABI 3500, 3130 Dr. Berenténé,
Dr. Bene Judit,
Dr.Czakó Márta
Genetic tests Italy, Milan IRCCS-Neurological Institute Carlo Besta; Unit of Genetic of Neurodegenerative and Metabolic disorders. Farnco Taroni,
Cinzia Gellera
Genetic tests, Ataxia gene panel Italy, Rome Bambino Gesù Children’s Hospital, IRCCS
Department of Neurosciences
Unit of Neuromuscular and Neurodegenerative Disorders
Dr. Ginevra Zanni
Dr. Enrico Bertini
Prof Federico Vigevano
Genetic test Italy, Siena Genetica medica Università di Siena Prof.ssa A. Renieri
Clinical exome sequencing Netherlands, Nijmegen Genome diagnostics Nijmegen Dr. Erik-Jan Kamsteeg
Requests via:
www.genomediagnosticsnijmegen.nl
Genetic tests Norway, Oslo Oslo University Hospital, dep of med genetics C. Tallaksen

Dystonia

Diagnostic tests Centre of expertise Facility Contact person
Genetic tests Czech Republic, Prague Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital Anna Křepelová
Genetic tests
TIMM8A
Dystonia deafness
Czech Republic, Prague Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague Lenka Dvořáková
Genetic tests France, Paris CHU d’Angers, Département de Biochimie Génétique Dr Marie-Claire Malinge, Pr Procaccio
Genetic tests France, Montpellier Institut Universitaire de Recherche Clinique (IURC), Laboratoire de Génétique Moléculaire – Montpellier Pr Michel Koenig
Genetic tests France, Paris Hôpital Pitié-Salpêtrière, UF de Neurogénétique Moléculaire et Cellulaire - Paris Dr Cécile Cazeneuve, Dr Guillaume Banneau, Dr Fabienne Clot
Genetic tests France, Strasbourg CHU de Strasbourg - Hôpital Civil, Laboratoire de diagnostic génétique Dr Bénédicte Gérard
Pr Jean-Louis Mandel
Genetic tests France, Reims CHU de Reims - Hôpital Maison Blanche, Laboratoire de génétique Pr Anne-Sophie Lèbre
Genetic tests Germany, Lübeck Institute for Neurogenetics Prof. C. Klein
Sequencing Italy, Milan Genetic lab rossana.mineri@humanitas.it
Genetic tests (Panel NGS) Italy, Milan IRCCS-Neurological Institute Carlo Besta; Unit of Molecular Neurogenetics garavaglia@istituto-besta.it
Genetic test Italy, Rome Istituto CSS-Mendel, Rome Dr. Enza Maria Valente
Dystonia targeted gene panel Netherlands, Groningen Genetics Prof M de Koning-Tijssen
Genetic tests (DYT1) Norway, Oslo Oslo University Hospital, dep of med genetics C. Tallaksen

FTD – Frontotemporal Dementia

Diagnostic tests Centre of expertise Facility Contact person
Genetic tests Czech Republic, Prague Department of Pathology and Molecular Medicine, Thomayer Hospital Radoslav Matěj
Genetic tests France, Paris Hôpital Pitié-Salpêtrière, UF de Neurogénétique Moléculaire et Cellulaire - Paris Dr Cécile Cazeneuve, Dr Guillaume Banneau, Dr Fabienne Clot
Genetic tests France, Paris Hôpital Pitié-Salpêtrière, UF de cardiogénétique et myogénétique moléculaire et cellulaire - Paris Pr Hainque

HSP – Hereditary Spastic Paraplegia

Diagnostic tests Centre of expertise Facility Contact person
Genetic tests Czech Republic, Prague Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital Pavel Seeman
Genetic tests France, Paris CHU d’Angers, Département de Biochimie Génétique Dr Marie-Claire Malinge, Pr Procaccio
Genetic tests France, Montpellier Institut Universitaire de Recherche Clinique (IURC), Laboratoire de Génétique Moléculaire – Montpellier Pr Michel Koenig
Genetic tests France, Paris Hôpital Pitié-Salpêtrière, UF de Neurogénétique Moléculaire et Cellulaire - Paris Dr Cécile Cazeneuve, Dr Guillaume Banneau, Dr Fabienne Clot
Genetic tests (Panel NGS) Germany, Tübingen Department of Human Genetics Tübingen Prof. Olaf Riess
Genetic tests Italy, Florence NEUROFARBA University of Florence Prof. Benedetta Nacmias
Genetic tests, HSP gene panel Italy, Milan IRCCS-Neurological Institute Carlo Besta; Unit of Genetic of Neurodegenerative and Metabolic disorders. Franco Taroni
HSP gene Panel Italy, Pisa IRCCS Fondazione Stella Maris Dr. Filippo Santorelli
Genetic tests (NGS panel) Italy, Rome Laboratory of Molecular Medicine Lorena Travaglini, PhD
Genetic tests (C9ORF72) Italy, Siena Neurologia e Neurofisiologia Clinica Università di Siena Dr.ssa Stefania Battistini
Clinical exome sequencing Netherlands, Nijmegen Genome diagnostics Nijmegen Dr. Erik-Jan Kamsteeg
Requests via: www.genomediagnosticsnijmegen.nl
HSP gene panel Norway, Oslo Oslo University Hospital, dep of med genetics C Tallaksen
HSP gene panel (up to 80 genes) UK, London Neurogenetics Laboratory national Hospital for Neurology and Neurosurgery (NHNN) Prof Henry Houlden
p.giunti@ucl.ac.uk

Leukodystrophy

Diagnostic tests Centre of expertise Facility Contact person
Genetic tests Czech Republic, Prague Department of Pathology and Molecular Medicine, Thomayer Hospital Radoslav Matěj
Genetic and metabolic tests Czech Republic, Prague Institute of Inherited Metabolic Disorders, , First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague Viktor Kožich
Cytogenetic, CGH array France, Clermond-Ferrand CHU Estaing, Service de Cytogénétique, Clermond-Ferrand Pr Philippe VAGO
Genetic tests France, Lyon CHU de Lyon-GH Est - Hospices Civils de Lyon, Centre de Biologie et Pathologie Est, Service Maladies héréditaires du métabolisme et dépistage néonatal - Lyon Dr Christine Vianey-Saban
Genetic tests France, Paris Hôpital Robert Debré, U.F.de Génétique Moléculaire - Paris Dr Séverine Drunat, Pr Cave
Genetic tests France, Paris Hôpital Trousseau, Laboratoire de neurogénétique moléculaire - Paris Dr Lydie Burglen
Genetic tests, gene panel Italy, Milan IRCCS-Neurological Institute Carlo Besta; Unit of Genetic of Neurodegenerative and Metabolic disorders. Franco Taroni
Genetic tests (NGS panel) - Hypomyelinating, Demyelinating leukodystrophies in childhood Italy, Rome Laboratory of Molecular Medicine Chiara Aiello, PhD
Lorena Travaglini, PhD
Genetic Test, single gene:
NOTCH3, HTRA1, GFAP, EIF2B1-5, CSF1R, CTX
Italy, Siena Clinica Neurologica e Malattie Neurometaboliche
Università di Siena
Prof. Antonio Federico
WES;
White matter gene panel (via WES) – regularly updated to include newly found genes);
Single genes (the most important ones are: EIF2B1-5, MLC1, HEPACAM, ARSA, GALC, DARS2, EARS2, DARS, AARS2, RARS, POLR3A, POLR3B, POLR1C, PLP1, TUBB4A, GFAP, FAM126A, GJC2)
Netherlands, Amsterdam Genetic testing (dept. of child neurology, dept. of clinical genetics and dept. of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam) Dr. Resie Vervenne
Prof. Dr. Marjo S van der Knaap
Prof. Dr. Gajja S Salomons
Genetic tests Norway, Oslo Oslo University Hospital, dep of med genetics C Tallaksen

NBIA – Neurodegeneration with Brain Iron Accumulation

Diagnostic tests Centre of expertise Facility Contact person
Genetic test, PANK 1 Czech Republic, Prague Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital Anna Křepelová
Genetic tests, Wilson´s disease Czech Republic, Prague Department of Pediatrics and Adolescent Medicine
First Faculty of Medicine, Charles University and General University Hospital in Prague
Laboratory for study of mitochondrial disorders
Daniela Zahorakova
Genetic tests France, Paris CHU d’Angers, Département de Biochimie Génétique Dr Marie-Claire Malinge, Pr Procaccio
Genetic tests France, Lyon CHU de Lyon-GH Est - Hospices Civils de Lyon, Centre de Biologie et Pathologie Est, Service Maladies héréditaires du métabolisme et dépistage néonatal - Lyon Dr Christine Vianey-Saban
Genetic tests France, Montpellier Institut Universitaire de Recherche Clinique (IURC), Laboratoire de Génétique Moléculaire – Montpellier Pr Michel Koenig
Sequencing Italy, Milan Genetic lab rossana.mineri@humanitas.it
Genetic tests (Panel NGS) Italy, Milan IRCCS-Neurological Institute Carlo Besta; Unit of Molecular Neurogenetics garavaglia@istituto-besta.it

Parkinsonism

Diagnostic tests Centre of expertise Facility Contact person
Genetic tests PD and APS Czech Republic, Prague Department of Pediatrics and Adolescent Medicine
First Faculty of Medicine, Charles University and General University Hospital in Prague
Laboratory for study of mitochondrial disorders
Daniela Zahorakova
Genetic tests Germany, Lübeck Institute for Neurogenetics Prof. C. Klein
Genetic tests (gene panel) Germany, Tübingen Department of Human Genetics Tübingen Prof. Olaf Riess
Genetic test SNCA Greece, Athens Biomedical Research Foundation, Academy of Athens (BRFAA) lstefanis@bioacademy.gr
Genetic test GBA Greece, Athens Institute of Child Health inchildh@otenet.gr
ecfdept@ich.gr
Sequencing Italy, Milan Genetic lab rossana.mineri@humanitas.it
Genetic tests (Panel NGS) Italy, Milan IRCCS-Neurological Institute Carlo Besta; Unit of Molecular Neurogenetics garavaglia@istituto-besta.it
Genetic Test, single gene: SLC20A2, PDGFB, PDGFRB, XPR1 Italy. Siena Clinica Neurologica e Malattie Neurometaboliche
Università di Siena
Prof. Antonio Federico
Clinical exome sequencing Netherlands, Nijmegen Genome diagnostics Nijmegen Dr. Erik-Jan Kamsteeg
Requests via:
www.genomediagnosticsnijmegen.nl