contact & imprint

Genetic diagnostic services

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