Search for a diagnostic test
138 Result(s)
Caption
: Accreditation
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Nordrhein-Westfalen
BOCHUM
Molecular diagnosis of spinocerebellar ataxia type 1-3, 6, 7, 14, 17 (ATXN1-3, CACNA1A, ATXN7, PRKCG, TBP genes)
Ruhr-Universität Bochum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: Sanger sequencing

Niedersachsen
GÖTTINGEN
Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7 and 17 (ATXN1-3, ATXN7, CACNA1A, TBP genes)
Institut für Humangenetik der Universität Göttingen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
TÜBINGEN
Molecular diagnosis of spinocerebellar ataxia type 1-4, 6-8, 10-17, 27, 29 (ATXN1-3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FGF14, ITPR1, KCNC3, PPP2R2B, PRKCG, TBP, TTBK2 genes)
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Methylation analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

Baden-Württemberg
ULM
Molecular diagnosis of spinocerebellar ataxia type 1-3, 6-8, 12, 14, 17 (ATXN1-3, CACNA1A, ATXN7, ATXN8, PPP2R2B, PRKCG, TBP genes)
Universitätsklinikum Ulm
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

TIROL
INNSBRUCK
Molecular diagnosis of spinocerebellar ataxia (ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, TBP, and TPP1 genes)
Medizinische Universität Innsbruck
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Cataluña
BARCELONA
Diagnosis of autosomal dominant spinocerebellar ataxia (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, PPP2R2B, TBP genes)
Laboratorio de Análisis Dr. Echevarne
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Bayern
MÜNCHEN
Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7, 8, 13, 17, 18 (ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, CACNA1A, IFRD1, KCNC3, TBP genes)
Medizinisch Genetisches Zentrum München
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), PCR based techniques

Suisse Romande
GENÈVE
Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA 1, 2, 3, 6, 7, 17 genes)
Hôpitaux Universitaires de Genève HUG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

NORTE
PORTO
Molecular diagnosis of autossomal dominant spinocerebellar ataxia type 1, 2, 3, 5, 6, 7, 10, 11, 12, 13, 14, 17, 18, 27 and DRPLA (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN10, TTBK2, PPP2R2B, PRKCG, TBP, KCNC3, IFRD1, FGF14, SPTBN2, ATN1 genes)
Instituto de Biologia Molecular e Celular
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ANTWERPEN
ANTWERPEN-EDEGEM
Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA1,2,3,6,7,8,10,12,17) (ATX1, ATX2, ATX3, CACNA1A, ATX7, PPP2R2B, TPB genes)
University Hospital of Antwerp - UZA- Centrum Medische Genetica - CMG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA1,2,3,6,7) (ATX1, ATX2, ATX3, CACNA1A, ATX7 genes)
Erasme Hospital - ULB
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Sachsen
DRESDEN
Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Suisse Romande
LAUSANNE
Molecular diagnosis of autosomal dominant Spinocerebellar Ataxia (SCA1, 2, 3, 6, and 7)(ATXN1, ATXN2, ATXN3, CACNA1A and ATXN7 genes)
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Asturias
OVIEDO
Diagnosis of autosomal dominant cerebellar ataxia (ATXN1, PPP2R2B, TBP, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8 genes)
Hospital Universitario Central de Asturias
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Groningen
GRONINGEN
Molecular diagnosis of Autosomal Dominant Cerebellar Ataxia (ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A and PDYN gene)
UMCG - Universitair Medisch Centrum Groningen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Utrecht
UTRECHT
Molecular diagnosis of Spinocerebellar Ataxia (ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, PPP2R2B, PRKCG, TBP, KCNC3, PDYN and AFG3L2 gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
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

Schleswig-Holstein
LÜBECK
Molecular diagnosis of spinocerebellar ataxia type 1-3, 6-8, 10-14, 17, 27, 28 (AFG3L2, ATXN1-3, ATXN7, ATXN10, CACNA1A, FGF14, KCNC3, PPP2R2B, PRKCG, TBP, TTBK2 genes)
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Mecklenburg-Vorpommern
ROSTOCK
Molecular diagnosis of spinocerebellar ataxia type 1-8, 10-18, 27, 31 (ATXN1-3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FGF14, IFRD1, ITPR1, KCNC3, PLEKHG4, PPP2R2B, PRKCG, SPTBN2, TBP, TTBK2 genes)
Centogene AG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Mecklenburg-Vorpommern
ROSTOCK
Molecular diagnosis of spinocerebellar ataxia type 1-8, 10, 12-14, 17 and 27 (ATXN1-3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FGF14, KCNC3, PLEKHG4, PPP2R2B, PRKCG, SPTBN2 and TBP genes)
Diagenom GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

ANTWERPEN
ANTWERPEN-EDEGEM
Molecular diagnosis of SCA6: Spinocerebellar ataxia type 6 (CACNA1A gene)
University Hospital of Antwerp - UZA- Centrum Medische Genetica - CMG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

VLAAMS BRABANT
LEUVEN
Molecular diagnosis of SCA6: Spinocerebellar ataxia type 6 (CACNA1A gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

HAINAUT
GOSSELIES
Molecular diagnosis of SCA6: Spinocerebellar ataxia type 6 (CACNA1A gene)
Institut de Pathologie et de Génétique - Gosselies
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Finland
TURKU
Molecular diagnosis of spinocerebellar ataxia type 6 (CACNA1A gene)
Turku University Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

PAYS DE LA LOIRE
ANGERS
Molecular diagnosis of autosomal dominant spinocerebellar ataxia, type 6 (CACNA1A gene)
CHU d'Angers
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)
: PCR based techniques

South Glamorgan
CARDIFF
Molecular diagnosis of Spinocerebellar Ataxia type 6 (CACNA1A gene)
University Hospital of Wales
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

South Yorkshire
SHEFFIELD
Molecular diagnosis of Spinocerebellar Ataxia type 6 (CACNA1A gene)
Sheffield Children's NHS Foundation Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Thüringen
JENA
Molecular diagnosis of spinocerebellar ataxia type 1-3, 6, 7 (ATXN1-3, CACNA1A genes)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Suisse Alémanique
ZÜRICH
Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17 genes)
Genetica AG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Zuid-Holland
ROTTERDAM
Molecular diagnosis of Spinocerebellar Ataxia type 1, 2, 3, 6, 7, 12, 17 and 27 (ATXN1, ATXN2, AXTN3, CACNA1A, ATXN7, PPP2R2B, TBP and FGF14 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, PCR based techniques

Rheinland-Pfalz
INGELHEIM AM RHEIN
Molecular diagnosis of spinocerebellar ataxia type 1-3, 6, 7, 10, 17 (ATXN1-3, ATXN10, CACNA1A, ATXN7, TBP genes)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Nordrhein-Westfalen
AACHEN
Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7, 8 and 17 (ATXN1-3, ATXN7, ATXN8OS, CACNA1A, TBP genes)
Universitätsklinikum Aachen
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

West Midlands
BIRMINGHAM
Molecular diagnosis of Autosomal Dominant Cerebellar Ataxia type 3 (ADCAIII) - SCA6 (CACNA1A gene)
Birmingham Women's NHS Foundation Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Gelderland
NIJMEGEN
Molecular diagnosis of Autosomal Dominant Spinocerebellar Ataxia type 6, 28 and 35 (CACNA1A, AGF3L2 and TGM6 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

Hamburg
HAMBURG
Molecular diagnosis of spinocerebellar ataxia type 1-8, 10-15, 17, 27, 29 (ATXN1-3, ATXN7, ATXN8, ATXN10, CACNA1A, FGF14, KCNC3, PLEKHG4, PPP2R2B, PRKCG, SPTBN2, TBP, TTBK2 genes)
MVZ Fenner & Krasemann
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Bayern
MARTINSRIED
Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7, 17 (ATXN1-3, ATXN7, CACNA1A, TBP genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
KARLSRUHE
Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6 (ATXN1-3, CACNA1A genes)
Labor PD Dr. Volkmann und Kollegen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
FREIBURG
Molecular diagnosis of spinocerebellar ataxia type 1-3, 5, 6, 8, 10-14, 17, 18, 20, 23, 27-29, 31 (AFG3L2, ATXN1-3, ATXN8OS, ATXN10, BEAN, CACNA1A, FGF14, IFRD1, ITPR1, KCNC3, PDYN, PPP2R2B, PRKCG, SCA20, SPTBN2, TBP, TTBK2 genes)
Praxis für Humangenetik Freiburg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

NORTE
PORTO
Molecular diagnosis of dominant ataxias (NGS panel for AFG3L2, CACNA1A, CACNB4, FGF14, IFRD1, ITPR1, KCNA1, KCNC3, PDYN, PRKCG, SLC1A3, SPTBN2, TGM6, TTBK2 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)

Bayern
MÜNCHEN
Molecular diagnosis of spinocerebellar ataxia type 1-3, 6, 7 (ATXN1-3, ATXN7, CACNA1A genes)
Zweigniederlassung der synlab MVZ Augsburg GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Manitoba
WINNIPEG
Molecular Diagnosis of Spinocerebellar Ataxia Types 1,2,6,7,8 (ATXN1, ATXN2, CACNA1A, ATXN7, ATXN8OS triplet repeat analysis)
Health Sciences Centre
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Cataluña
L'HOSPITALET DE LLOBREGAT
Molecular diagnosis of spinocerebellar ataxia type 6 (CACNA1A gene)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Nordrhein-Westfalen
DORTMUND
Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7, 8, 12 , 17, 19, 22 (ATXN1-3, ATXN7, ATXN8OS, CACNA1A, KCND3, PPP2R2B, TBP genes)
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

Ontario
TORONTO
Molecular Diagnosis of Spinocerebellar Ataxia type 6 (CACNA1A triplet repeat analysis)
North York General Hospital
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Bayern
MÜNCHEN
Molecular diagnosis of rare ataxia (NGS screening panel, 98 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, MLPA based techniques

Bayern
MARTINSRIED
Molecular diagnosis of hereditary ataxia (NGS panel, 103 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

GRAND-EST
STRASBOURG
Diagnosis of parkinsonian disorder (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)

OCCITANIE
MONTPELLIER
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)

Bayern
MÜNCHEN
Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 5-8, 10-17, 27-29, 31 (AFG3L2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, ATXN8OS, BEAN1, CACNA1A, FGF14, ITPR1, KCNC3, PPP2R2B, PRKCG, SPTBN2, TBP, TTBK2 genes)
Pränatalmedizin München
Purpose(s)
: Antenatal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Zuid-Holland
ROTTERDAM
Molecular diagnosis of Spinocerebellar Ataxia (panel; 7 genes)
Erasmus MC, Faculteitsgebouw
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Zuid-Holland
ROTTERDAM
Molecular diagnosis of Spinocerebellar Ataxia (panel; 5 genes)
Erasmus MC, Faculteitsgebouw
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Nordrhein-Westfalen
KÖLN
Molecular diagnosis of spinocerebellar ataxia type 6 (CACNA1A 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

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of neuromuscular channelopathies (gene 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)

Bayern
BAD STEBEN
Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Skane
LUND
Molecular diagnosis of spinocerebellar ataxia type 6 (CACNA1A gene: fragment analysis)
Skånes Universitetssjukhus
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Baden-Württemberg
TÜBINGEN
Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7, 13, 14, 17, 19, 22, 27, 34 (ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, ELOVL4, FGF14, KCNC3, KCND3, PRKCG, TBP genes)
CeGaT GmbH
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), PCR based techniques

Merseyside
LIVERPOOL
Molecular diagnosis of Spinocerebellar Ataxia type 6 (CACNA1A gene)
Liverpool Women's NHS Foundation Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Tyne & Wear
NEWCASTLE UPON TYNE
Molecular diagnosis of Spinocerebellar Ataxia type 6 (CACNA1A gene)
Newcastle upon Tyne Hospitals NHS Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Greater London
LONDON
Molecular diagnosis of Spinocerebellar Ataxia type 6 (CACNA1A gene)
National Hospital for Neurology and Neurosurgery
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Antrim and Newtownabbey
BELFAST
Molecular diagnosis of Spinocerebellar Ataxia type 6 (CACNA1A gene)
Belfast City Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Cambridgeshire
CAMBRIDGE
Molecular diagnosis of Spinocerebellar Ataxia type 6 (CACNA1A gene)
Addenbrooke's Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

HAUTS-DE-FRANCE
LILLE
Molecular diagnosis of spinocerebellar ataxia type1, 2, 3, 6, 7 and 17 (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7 and TBP genes)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

LAZIO
ROMA
Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA 1, 2, 3, 6, 7, 12, 14, 17, 27) (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, PPP2R2B, PRKCG, TBP, FGF14 genes)
CNR - Dipartimento di Medicina
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

LAZIO
ROMA
Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA 1, 2, 3, 6, 7) (ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A genes)
Laboratorio Genoma
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Hessen
GIEßEN
Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7, 13, 17, 19 and 23 (ATXN1-3, ATXN7, CACNA1A, KCNC3, KCND3, MTATP6, PDYN, PRKCG, TBP genes)
Institut für Humangenetik des UKGM am Standort Gießen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Galicia
SANTIAGO DE COMPOSTELA
Molecular diagnosis of autosomal dominant cerebellar ataxia (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, PPP2R2B, TBP genes)
CHUS - Complejo Hospitalario Universitario de Santiago
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

LOMBARDIA
MILANO
Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA 1, 2, 3, 6)
IRCCS Ospedale San Raffaele
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Bayern
REGENSBURG
Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7 (ATXN1-3, ATXN7, CACNA1A genes)
MVZ Dr. Staber & Kollegen GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Andalucía
SEVILLA
Diagnosis of autosomal dominant cerebellar ataxias (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8, ATXN10, ATN1 and TBP genes)
Hospital Universitario Virgen del Rocío
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Cataluña
BARCELONA
Diagnosis of autosomal dominant cerebellar ataxia (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8, ATN1 genes)
Centro de Diagnóstico Biomédico - CDB
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

PIEMONTE
TORINO
Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17)
A.O. Città della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Suisse Alémanique
SCHLIEREN
Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA 1, 2, 3, 6, 7 and 8): CAG expansion
Universität Zürich
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Niedersachsen
OSNABRÜCK
Molecular diagnosis of spinocerebellar ataxia type 1-3, 5-8, 10-14, 17, 23, 27, 28 (AFG3L2, ATXN1-3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FGF14, KCNC3, PDYN, PPP2R2B, PRKCG, SPTBN2, TBP, TTBK2 genes)
Praxis Dres. Gencik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

WIEN
WIEN
Molecular diagnosis of spinocerebellar ataxia (ATXN1, 2, 3, and 7, CACNA1A, and TBP genes)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

WIEN
WIEN
Molecular diagnosis of spinocerebellar ataxia (TWNK, ATXN1, 2, 3, 7, 8OS, and 10, CACNA1A, TTBK2, PPP2R2B, KCNC3, KCND3, PRKCG, TBP, TDP1, SPTBN2, ITPR1, PDYN, FGF14, AFG3L2, ANO10, TPP1, and SETX genes)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Madrid
MADRID
Diagnosis of autosomal dominant spinocerebellar ataxia: SCA 1, 2, 3, 6, 7 and 8 (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8 genes)
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)
: PCR based techniques

Jylland
AARHUS
Molecular diagnosis of spinocerebellar ataxia (type 1, 2, 3, 6, 7)
Aarhus Universitetshospital - Skejby
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: Sanger sequencing

VENETO
COSTOZZA DI LONGARE
Molecular diagnosis of cerebellar ataxia, type 1, 2, 3, 5, 6, 7, 8, 10, 12, 13, 14, 17, 27,36 (ATXN1, ATXN2, ATXN3, SPTBN2, CACNA1A, ATXN7, ATXN8OS, ATXN10, PPP2R2B, PRKCG, TBP, FGF14, NOP56 genes)
B.I.R.D. Foundation
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, Uniparental disomy study
Technique(s)
: Sanger sequencing, PCR based techniques

TURKEY
ISTANBUL
Molecular diagnosis of spinocerebellar ataxia types 1, 2, 3, 6, 7, 8, 10 and 12
Acibadem healthcare group
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

EMILIA ROMAGNA
FERRARA
Molecular diagnosis of spinocerebellar ataxia (SCA 1, 2, 3, 6, 7) (ATX1, ATX2, ATX3, ATX6, ATX7 genes)
A.O.U. di Ferrara - Polo Chimico-Bio-Medico
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Dél-Dunántúl
PECS
Molecular diagnosis of spinocerebellar ataxia type 1,2,3,6,7 and 17 (ATXN1, ATXN2, ATXN3, CACNA1A , ATXN7 and TBP genes)
Clinical Center - University of Pécs
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Molecular diagnosis of SCA6: Spinocerebellar ataxia type 6 (CACNA1A gene, trinucleotide repeats)
Universitair Ziekenhuis Brussel - UZBrussel
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

ILE-DE-FRANCE
PARIS
Molecular diagnosis of autosomal dominant spinocerebellar ataxia type 6 (CACNA1A gene)
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)
: PCR based techniques

NOUVELLE AQUITAINE
POITIERS
Molecular diagnosis of spinocerebellar ataxia type 6 (CACNA1A gene)
CHU de Poitiers
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Andalucía
ARMILLA
Molecular diagnosis of spinocerebellar ataxia type 6 (entire coding sequence of CACNA1A gene)
Lorgen G.P.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region

Comunidad Valenciana
PATERNA
Molecular diagnosis of spinocerebellar ataxia type 6 (CACNA1A gene / CAG expansion detection by PCR)
IMEGEN - Instituto de Medicina Genómica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Sachsen
DRESDEN
Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7, 8, 11, 15, 17, 23, 28 and 29 (AFG3L2, ATXN1-3, ATXN7, CACNA1A, ITPR1, PDYN, TBP, TTBK2 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

CAMPANIA
NAPOLI
Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 17 (ATXN1, ATXN2, ATXN3, CACNA1A, TBP genes)
Biotecnologie Avanzate Srl
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Andalucía
MÁLAGA
Molecular diagnosis of spinocerebellar ataxia (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8OS, ATXN10, TBP genes)
Genetaq
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

NORTE
PORTO
Molecular diagnosis of spinocerebellar ataxias types 1, 2, 3, 5, 6, 7, 8, 11, 12, 17, 18, 19/22 (ATXN1, ATXN2, ATXN3, SPTBN2, CACNA1A, ATXN7, ATXN8, TTBK2, PPP2R2B, TBP, IFRD1, KCND3 genes)
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Berlin
BERLIN
Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7, 8, 10, 12 and 17 (ATXN1-3, ATXN10, ATXN7, ATXN8OS, CACNA1A, PPP2R2B, TBP, genes)
Praxis für medizinische Genetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Sachsen
LEIPZIG
Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6 and 17 (ATXN1-3, CACNA1A, TBP genes)
Institut für Humangenetik am Universitätsklinikum Leipzig
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Comunidad Valenciana
PATERNA
Molecular diagnosis of spinocerebellar ataxia type 6 (CACNA1A gene)
Sistemas Genómicos S.L.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Cataluña
TERRASSA
Diagnosis of autosomal dominant cerebellar ataxia (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8, ATN1 genes)
Consorci Sanitari de Terrassa
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

La Rioja
LOGROÑO
Diagnosis of spinocerebellar ataxia type 6 (CACNA1A gene)
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

Comunidad Valenciana
SANT JOAN D'ALACANT
Molecular diagnosis of spinocerebellar ataxia type 6 (CACNA1A gene / CAG triplet expansion)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Castilla - León
SALAMANCA
Diagnosis of spinocerebellar ataxia type 6 (CACNA1A gene)
Universidad de Salamanca. Facultad de Medicina
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Alberta
CALGARY
Molecular Diagnosis of Spinocerebellar Ataxia type 6 (CACNA1A triplet repeat analysis)
Alberta Children's Hospital
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Colombie-Britannique
VANCOUVER
Spinocerebellar Ataxia Panel (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7 triplet repeat analysis))
BC Women's Hospital and Health Centre
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Technique(s)
: NGS sequencing (except WES)

NOUVELLE AQUITAINE
POITIERS
Diagnosis of dentatorubral pallidoluysian atrophy (ATN1 gene)
CHU de Poitiers
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

NOUVELLE AQUITAINE
POITIERS
Diagnosis of spinocerebellar ataxia type 17 (TBP gene)
CHU de Poitiers
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Comunidad Valenciana
ELCHE
Diagnosis of spinocerebellar ataxia type 6 (CACNA1A gene)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: PCR based techniques

Közép-Magyarország
BUDAPEST
Molecular diagnosis of SCA1, SCA2, SCA3, SCA6 and SCA7 (ATXN1, ATXN2, ATXN3, CACNA1A and ATXN7 genes)
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

HAUTS-DE-FRANCE
LILLE
Diagnosis of autosomal dominant ataxia (Panel)
CHRU 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)

ILE-DE-FRANCE
PARIS
Diagnosis of paroxystic channelopathies of the central nervous system (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

País Vasco
SAN SEBASTIÁN
Diagnosis of spinocerebellar ataxia types 1, 2, 3, 6 and 7 (ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A genes)
DNA Data
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

País Vasco
SAN SEBASTIÁN
Diagnosis of spinocerebellar ataxia type 6 (CACNA1A gene)
DNA Data
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

LOMBARDIA
MILANO
Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA 1, 2, 3, 6, 7, 15/16, 17, 28)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

CAMPANIA
NAPOLI
Molecular diagnosis of spinocerebellar ataxia (SCA 1, 2, 3, 6, 7,12, 17)
Azienda Ospedaliera Universitaria "Federico II"
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

PUGLIA
SAN GIOVANNI ROTONDO
Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA 1, 2, 3, 6, 17)
IRCCS Ospedale Casa Sollievo della Sofferenza - Polamb. Giovanni Paolo II
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

LAZIO
ROMA
Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA 1, 2, 3, 6, 7, 12, 17) (ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, PPP2R2B, TBP genes)
Policlinico Universitario "A. Gemelli"
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Mecklenburg-Vorpommern
ROSTOCK
Molecular diagnosis of spinocerebellar ataxia type 1-8, 10, 12-14, 17, 27 (ATXN1-3, ATXN7, ATXN10, CACNA1A, FGF14, KCNC3, PLEKHG4, PPP2R2B, PRKCG, SPTBN2, TBP genes)
Albrecht-Kossel-Institute for Neuroregeneration (AKos)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

CALABRIA
MANGONE
Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA 1, 2, 3, 6, 7, 8, 12, 14, 17)
CNR
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

TOSCANA
PISA
Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA1, 2, 3, 6, 7, 8, 12, 17) (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8, PPP2R2B, TBP genes)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

TOSCANA
SIENA
Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA 1, 2, 3, 6, 7, Machado-Joseph disease) (ATXN1, ATXN2, ATXN3 and CACNA1A genes)
Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

TOSCANA
FIRENZE
Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA 1, 2, 3, 6, 7, 8, 12, 17)
Azienda Ospedaliero Universitaria Careggi - NEUROFARBA
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

SICILIA
TROINA
Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA 1, 2, 3, 6, 7, 8)
IRCCS OASI Maria Santissima
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Tartu
TARTU
Molecular diagnosis of autosomal dominant spinocerebellar ataxia types 1, 2, 3 and 6 (SCA1, SCA2, SCA3 and CACNA1A genes)
Tartu University Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Cyprus
NICOSIA
Molecular diagnosis of spinocerebellar ataxia types 1,2,3,6,7,8,12 and 17 (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, SCA8, PPP2R2B, TBP genes)
The Cyprus Institute of Neurology and Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Vestlandet
BERGEN
Molecular diagnosis of spinocerebellar ataxia 1, 2, 3, 6 and 7 (ATXN1, ATXN2, ATXN3, CACNA1A and ATXN7 genes)
Haukeland University Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Bayern
MÜNCHEN
Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6 (ATXN1-3, CACNA1A genes)
LMU Klinikum der Universität München - Campus Großhadern
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Stockholms läns landsting
STOCKHOLM
Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA1,2,3,6,7)
Karolinska University Hospital - Clinical Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Østlandet
OSLO
Molecular diagnosis of spinocerebellar ataxia, type 1, 2, 3, 6, 7
Oslo University Hospital, Ullevaal
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
JERUSALEM
Molecular diagnosis of Spino Cerebellar Ataxia (SCA1, SCA2, SCA3, SCA6, SCA7 , Mutation analysis, PGD)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Capital City Prague
PRAHA
Postnatal molecular diagnosis of spinocerebellar ataxias type 1, 2, 6 and 7 (ATXN1, ATXN2, CACNA1A and ATXN7 genes)
Motol university hospital - 2nd Medical School Charles University Prague
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Andalucía
SEVILLA
Diagnosis of autosomal dominant cerebellar ataxia types 1,2,3,6,7 (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7 genes)
Hospital Universitario Virgen Macarena
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Bratislavsky kraj
BRATISLAVA
Molecular diagnosis of spinocerebellar ataxia type 6 (CACNA1A gene)
Medgene s.r.o.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Comunidad Valenciana
VALENCIA
Molecular diagnosis of spinocerebellar ataxia type 6 (CACNA1A gene)
Hospital Universitario y Politécnico La Fe
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

CROATIA
ZAGREB
Molecular diagnosis of Spinocerebellar Ataxia type 6
Zagreb Clinical Hospital Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Warszawa
WARSZAWA
Molecular diagnosis of spinocerebellar ataxia type 6 (CACNA1A gene)
Instytut Psychiatrii i Neurologii
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: PCR based techniques

Baden-Württemberg
TÜBINGEN
Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7 and 17 (ATXN1-3, ATXN7, CACNA1A, TBP genes)
Hertie-Institut für klinische Hirnforschung (HIH)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Castilla - León
SALAMANCA
Diagnosis of spinocerebellar ataxia types 1, 2, 3, 6, 7 and 8 (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7 and ATXN8 genes)
Innovagenomics, S.L.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of spinocerebellar ataxia (gene panel)
Laboratorio de Genética Clínica, S.L.
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, PCR based techniques

Lothian
EDINBURGH
Molecular diagnosis of Spinocerebellar Ataxia type 6 (CACNA1A gene)
Western General Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

LOMBARDIA
BRESCIA
Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7, 17 (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP genes)
Università degli Studi di Brescia
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

SICILIA
TROINA
Molecular diagnosis of spinocerebellar ataxia SCA1, 2, 3, 6, 7, 8 (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8, ATXN8OS genes)
IRCCS OASI Maria Santissima
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Cataluña
BADALONA
Diagnosis of spinocerebellar ataxia type 6 (CACNA1A gene)
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

ILE-DE-FRANCE
PARIS
Diagnosis of ataxia (Panel)
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
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)

MOLISE
POZZILLI