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GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation 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
Technical procedure(s) : Sanger sequencing

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GERMANY

Niedersachsen
GÖTTINGEN

Accreditation 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
Technical procedure(s) : Sanger sequencing

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GERMANY

Hamburg
HAMBURG

Accreditation Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7, 17 (ATXN1-3, ATXN7, CACNA1A, TBP genes)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Molecular diagnosis of spinocerebellar ataxia type 1-3, 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
Technical procedure(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
ULM

Accreditation 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
Technical procedure(s) : Sanger sequencing

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AUSTRIA

TIROL
INNSBRUCK

Accreditation Molecular diagnosis of spinocerebellar ataxia (SCA-1, SCA-2, SCA-3, SCA-6, DRPLA)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Cataluña
BARCELONA

Accreditation 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
Technical procedure(s) : PCR based techniques

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GERMANY

Bayern
MÜNCHEN

Accreditation 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
Technical procedure(s) : NGS sequencing (except WES), PCR based techniques, Whole Exome Sequencing (WES)

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SWITZERLAND

Suisse Romande
GENÈVE

Accreditation 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

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PORTUGAL

NORTE
PORTO

Accreditation 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

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BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation 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

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation 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

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GERMANY

Sachsen
DRESDEN

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

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SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation 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

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SPAIN

Asturias
OVIEDO

Accreditation 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
Technical procedure(s) : PCR based techniques

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NETHERLANDS

Groningen
GRONINGEN

Accreditation 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

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NETHERLANDS

Utrecht
UTRECHT

Accreditation 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
Technical procedure(s) : Sanger sequencing, PCR based techniques

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GERMANY

Schleswig-Holstein
LÜBECK

Accreditation 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
Technical procedure(s) : Sanger sequencing

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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation 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
Technical procedure(s) : Sanger sequencing

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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation 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
Technical procedure(s) : Sanger sequencing

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BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation 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

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BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation Molecular diagnosis of SCA6: Spinocerebellar ataxia type 6 (CACNA1A gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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BELGIUM

HAINAUT
GOSSELIES

Accreditation 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

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FINLAND

Finland
TURKU

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

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation 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) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Molecular diagnosis of Spinocerebellar Ataxia type 6 (CACNA1A gene)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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UNITED KINGDOM

South Yorkshire
SHEFFIELD

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

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UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation Molecular diagnosis of Spinocerebellar Ataxia type 6 (CACNA1A gene)
Newcastle upon Tyne Hospitals NHS Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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UNITED KINGDOM

Greater London
LONDON

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

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UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

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

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GERMANY

Thüringen
JENA

Accreditation 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
Technical procedure(s) : Sanger sequencing

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SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation 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

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation 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
Technical procedure(s) : Sanger sequencing, PCR based techniques

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GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation 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
Technical procedure(s) : Sanger sequencing

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GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation 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
Technical procedure(s) : Sanger sequencing, MLPA based techniques

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UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation 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

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation 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

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GERMANY

Hamburg
HAMBURG

Accreditation 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
Technical procedure(s) : Sanger sequencing

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GERMANY

Bayern
MARTINSRIED

Accreditation 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
Technical procedure(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation 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
Technical procedure(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
FREIBURG

Accreditation 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
Technical procedure(s) : Sanger sequencing

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PORTUGAL

NORTE
PORTO

Accreditation 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
Technical procedure(s) : NGS sequencing (except WES)

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GERMANY

Bayern
MÜNCHEN

Accreditation 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
Technical procedure(s) : Sanger sequencing

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CANADA

Manitoba
WINNIPEG

Accreditation 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
Specialty(ies) : Molecular genetics

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Molecular diagnosis of spinocerebellar ataxia type 6 (CACNA1A gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation 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
Technical procedure(s) : Sanger sequencing

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CANADA

Ontario
TORONTO

Accreditation Molecular Diagnosis of Spinocerebellar Ataxia type 6 (CACNA1A triplet repeat analysis)
North York General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Bayern
MÜNCHEN

Accreditation 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
Technical procedure(s) : Sanger sequencing

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation 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
Technical procedure(s) : PCR based techniques

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation 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
Technical procedure(s) : PCR based techniques

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GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation 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
Technical procedure(s) : Sanger sequencing

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GERMANY

Bayern
BAD STEBEN

Accreditation 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

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SWEDEN

Skane
LUND

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

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UNITED KINGDOM

Merseyside
LIVERPOOL

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

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UNITED KINGDOM

Antrim and Newtownabbey
BELFAST

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

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FRANCE

NORD-PAS-DE-CALAIS
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
Technical procedure(s) : PCR based techniques

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ITALY

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

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ITALY

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

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GERMANY

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
Technical procedure(s) : Sanger sequencing

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SPAIN

Aragón
ZARAGOZA

Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA1,2,3,6,7,8)
Centro de Análisis Genéticos
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

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

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ITALY

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

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GERMANY

Bayern
REGENSBURG

Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7 (ATXN1-3, ATXN7, CACNA1A genes)
Gemeinschaftspraxis Dr. Susanne Ebner und Dr. Susanne Markus
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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SPAIN

Andalucía
SEVILLA

Molecular diagnosis of autosomal dominant cerebellar ataxias (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8, ATXN10, ATN1 and TBP genes)
Hospital Universitario Virgen del Rocío
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

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
Technical procedure(s) : PCR based techniques

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ITALY

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

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SWITZERLAND

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
Technical procedure(s) : PCR based techniques

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ESTONIA

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

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GERMANY

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
Technical procedure(s) : Sanger sequencing

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7, and 17 (ATXN1, 2, 3, and 7, CACNA1A, and TBP genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of spinocerebellar ataxia (C10ORF2, ATXN1, 2, 3, 7, 8, and 10, CACNA1A, TTBK2, PPP2R2B, KCNC3, PRKCG, TBP, TDP1, and SETX genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

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
Technical procedure(s) : PCR based techniques

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DENMARK

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
Technical procedure(s) : Sanger sequencing

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ITALY

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
Technical procedure(s) : Sanger sequencing, PCR based techniques

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NORWAY

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

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TURKEY

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

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ITALY

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

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NORWAY

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

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HUNGARY

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

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GERMANY

Hamburg
HAMBURG

Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7 (ATXN1-3, ATXN7, CACNA1A genes)
Pränatalzentrum Hamburg und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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BELGIUM

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

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FRANCE

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
Technical procedure(s) : PCR based techniques

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FRANCE

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
Technical procedure(s) : PCR based techniques

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FRANCE

POITOU-CHARENTES
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
Technical procedure(s) : PCR based techniques

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SPAIN

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

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SPAIN

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
Technical procedure(s) : PCR based techniques

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GERMANY

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
Technical procedure(s) : Sanger sequencing

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ITALY

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

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SPAIN

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

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PORTUGAL

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

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GERMANY

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
Technical procedure(s) : Sanger sequencing

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GERMANY

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
Technical procedure(s) : Sanger sequencing

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SPAIN

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

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SPAIN

Cataluña
TERRASSA

Molecular 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

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SPAIN

La Rioja
LOGROÑO

Diagnosis of spinocerebellar ataxia type 6 (CACNA1A gene)
CIBIR - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : Sanger sequencing

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SPAIN

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
Technical procedure(s) : PCR based techniques

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SPAIN

Castilla - León
SALAMANCA

Molecular diagnosis of spinocerebellar ataxia type 6 (CACNA1A gene / HA-CSGE, sequencing)
Universidad de Salamanca. Facultad de Medicina
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CANADA

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
Technical procedure(s) : PCR based techniques

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GERMANY

Baden-Württemberg
FREIBURG

Molecular diagnosis of spinocerebellar ataxia type 1, 2, 3, 6,7 (ATXN1-3, 7,CACNA1A genes)
Institut für Humangenetik am Universitätsklinikum Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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CANADA

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
Technical procedure(s) : NGS sequencing (except WES)

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FRANCE

POITOU-CHARENTES
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
Technical procedure(s) : PCR based techniques

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FRANCE

POITOU-CHARENTES
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
Technical procedure(s) : PCR based techniques

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SPAIN

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
Technical procedure(s) : PCR based techniques

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HUNGARY

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
Technical procedure(s) : PCR based techniques

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FRANCE

ALSACE
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
Technical procedure(s) : NGS sequencing (except WES)

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FRANCE

LANGUEDOC-ROUSSILLON
MONTPELLIER

Diagnosis of hereditary ataxia (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
Technical procedure(s) : NGS sequencing (except WES)

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FRANCE

NORD-PAS-DE-CALAIS
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
Technical procedure(s) : NGS sequencing (except WES)

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FRANCE

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
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

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SPAIN

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
Technical procedure(s) : PCR based techniques

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SPAIN

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
Technical procedure(s) : PCR based techniques

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ITALY

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

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ITALY

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

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ITALY

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

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ITALY

MOLISE
POZZILLI

Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA 1, 2, 3, 6, 7, 8, 10, 12, 14, 17)
Istituto Neurologico Mediterraneo - IRCCS Neuromed
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

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

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GERMANY

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
Technical procedure(s) : Sanger sequencing

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ITALY

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

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ITALY

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

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ITALY

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

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ITALY

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

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ITALY

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

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CYPRUS

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

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GERMANY

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
Technical procedure(s) : Sanger sequencing

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SWEDEN

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

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ISRAEL

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

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CZECH REPUBLIC

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

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SPAIN

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
Technical procedure(s) : PCR based techniques

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SLOVAKIA

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

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SPAIN

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

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CROATIA

CROATIA
ZAGREB

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

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POLAND

Warszawa
WARSAW

Molecular diagnosis of spinocerebellar ataxia type 6 (CACNA1A gene: CAG repeat identification)
Instytut Psychiatrii i Neurologii
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

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
Technical procedure(s) : Sanger sequencing

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SPAIN

Castilla - León
SALAMANCA

Molecular 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

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SPAIN

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
Technical procedure(s) : Sanger sequencing, PCR based techniques

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UNITED KINGDOM

Lothian
EDINBURGH

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

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ITALY

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

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ITALY

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

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SPAIN

Cataluña
BADALONA

Molecular diagnosis of spinocerebellar ataxia type 6 (CACNA1A gene)
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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FRANCE

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
Technical procedure(s) : NGS sequencing (except WES)

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ITALY

MOLISE
POZZILLI

Molecular diagnosis of spinocerebellar ataxia (SCA1, SCA2, SCA6, SCA7, SCA8, SCA10, SCA12, SCA14, SCA17, SCA28 genes)
Istituto Neurologico Mediterraneo - IRCCS Neuromed
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : PCR based techniques

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