Diagnostic Tests

ERN-RND centres provide the following genetic tests for the diseases covered by the network.

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
Clinical exome sequencing Tübingen, Germany Institute for Medical Genetics and Applied Genomics Dr. Tobias Haack

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, Paris Hôpital Pitié-Salpêtrière, UF de Neurogénétique Moléculaire et Cellulaire Dr Cécile Cazeneuve
Dr Guillaume Banneau
Dr Fabienne Clot
Genetic tests France, Toulouse CHU de Toulouse - Hôpital Purpan - Service de génétique médicale Pr Patrick Calvas
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
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, 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 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

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 Hôpital Pitié-Salpêtrière, UF de Neurogénétique Moléculaire et Cellulaire - Paris Dr Cécile Cazeneuve, Dr Guillaume Banneau, Dr Fabienne Clot
Genetic tests Germany, Lübeck Institute for Neurogenetics Prof. C. Klein
Genetic tests (Panel NGS) Italy, Milan IRCCS-Neurological Institute Carlo Besta; Unit of Molecular Neurogenetics garavaglia@istituto-besta.it
Dystonia targeted gene panel Netherlands, Groningen Genetics Prof M de Koning-Tijssen

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 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, HSP gene panel Italy, Milan IRCCS-Neurological Institute Carlo Besta; Unit of Genetic of Neurodegenerative and Metabolic disorders. Franco Taroni
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 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
Genetic tests France, Paris Hôpital Robert Debré, U.F.de Génétique Moléculaire - Paris Dr Séverine Drunat, Pr Cave
Genetic tests, gene panel Italy, Milan IRCCS-Neurological Institute Carlo Besta; Unit of Genetic of Neurodegenerative and Metabolic disorders. Franco Taroni
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

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 (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 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