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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnostic de l'ataxie cérebelleuse autosomique dominante type 1 (gène ATXN1)
AP-HP.Sorbonne Université - Hôpital de la 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

FRANCE

PAYS DE LA LOIRE
ANGERS

Accreditation
Diagnostic de l'ataxie cérebelleuse autosomique dominante type 1 (gène ATXN1)
CHU d'Angers
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, Deletion / Duplication analysis
Technique(s) : PCR based techniques

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnostic des ataxies cérebelleuses type 1, 2, 3, 6, 7 et 17 (gènes ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7 et TBP)
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation
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

GERMANY

Niedersachsen
GÖTTINGEN

Accreditation
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

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
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

GERMANY

Baden-Württemberg
ULM

Accreditation
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

AUSTRIA

TIROL
INNSBRUCK

Accreditation
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

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
Technique(s) : PCR based techniques

FRANCE

NOUVELLE AQUITAINE
POITIERS

Accreditation
Diagnostic de l'ataxie spino-cérebelleuse type 1 (gène ATXN1)
CHU de Poitiers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
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

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
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
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of autosomal dominant spinocerebellar ataxia (ATXN1 and PRKCG genes)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
PATERNA

Accreditation
Diagnosis of spinocerebellar ataxia type 8 (ATXN8 gene)
Sistemas Genómicos S.L.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of autosomal dominant spinocerebellar ataxia types 1, 2, 3, 6, 7 (gene panel)
Erasme Hospital - ULB
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 1 (ATXN1 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Diagnosis of autosomal dominant spinocerebellar ataxias (SCA 1, 2, 3, 6, 7, 8 and 17): triplet repeat expansions (ATXN1,ATXN2,ATXN3,ATXN7,ATXN8,CACNA1A,TBP genes)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

GERMANY

Sachsen
DRESDEN

Accreditation
Diagnosis of spinocerebellar ataxia type (ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A genes)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

ESTONIA

Tartu
TARTU

Accreditation
Molecular diagnosis of autosomal dominant spinocerebellar ataxia types 1, 2, 3 and 6 (SCA1, SCA2, SCA3 and CACNA1A genes)
Genetics and Personalized Medicine Clinic - Tartu University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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

SPAIN

Asturias
OVIEDO

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

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

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of spinocerebellar ataxia types 1, 2, 3, 6, 7 (gene panel, CAG repeat expansion)
Universitair Ziekenhuis Brussel
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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
Technique(s) : Sanger sequencing, PCR based techniques

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 1 (ATXN1 gene)
Sheffield Children's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Schleswig-Holstein
LÜBECK

Accreditation
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) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 1 (ATXN1 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

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Spinocerebellar ataxia type 1 (ATXN1 gene)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWEDEN

Region Stockholm
SOLNA

Accreditation
Diagnosis of autosomal dominant spinocerebellar ataxia (ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A genes)
Karolinska Universitetssjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
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

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of SCA12: Spinocerebellar ataxia type 12 (repeat expansion)
Universitair Ziekenhuis Brussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of SCA17: Spinocerebellar ataxia type 17 (repeat expansion)
Universitair Ziekenhuis Brussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of SCA8: Spinocerebellar ataxia type 8 (repeat expansion)
Universitair Ziekenhuis Brussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Diagnosis of spinocerebellar ataxia (gene panel; CAG-repeat expansion in ATXN1, ATXN2, ATXN3, ATXN7 and CACNA1A genes)
Centrum Medische Genetica - UZA
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Diagnosis of spinocerebellar ataxia type 8 ((CTA.TAG)n (CTG.CAG)n-repeat in ATXN8 and ATXN8OS genes)
Centrum Medische Genetica - UZA
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Diagnosis of spinocerebellar ataxia type 12 (PPP2R2B gene)
Centrum Medische Genetica - UZA
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Diagnosis of spinocerebellar ataxia type 17 (TPB gene)
Centrum Medische Genetica - UZA
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of spinocerebellar ataxia (gene panel)
UZ Leuven - Campus Gasthuisberg
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), PCR based techniques

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Diagnosis of spinocerebellar ataxia types 1, 2, 3, 6, 7 and 17 (gene panel)
Institut de Pathologie et de Génétique
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Diagnosis of spinocerebellar ataxia type 8 (ATXN8 gene)
Institut de Pathologie et de Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Diagnosis of spinocerebellar ataxia type 12 (PPP2R2B gene)
Institut de Pathologie et de Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FINLAND

Finland
TURKU

Accreditation
Molecular diagnosis of spinocerebellar ataxia type 2 (ATXN2 gene)
Turku University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FINLAND

Finland
TURKU

Accreditation
Molecular diagnosis of spinocerebellar ataxia type 3 (ATXN3 gene)
Turku University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FINLAND

Finland
TURKU

Accreditation
Molecular diagnosis of spinocerebellar ataxia type 8 (ATXN8/ATXN8OS gene)
Turku University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FINLAND

Finland
TURKU

Accreditation
Molecular diagnosis of spinocerebellar ataxia type 12 (PPP2R2B gene)
Turku University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FINLAND

Finland
TURKU

Accreditation
Molecular diagnosis of spinocerebellar ataxia type 17 (TBP gene)
Turku University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

PAYS DE LA LOIRE
ANGERS

Accreditation
Diagnostic de l'ataxie cérebelleuse autosomique dominante type 2 (gène ATXN2)
CHU d'Angers
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, Deletion / Duplication analysis
Technique(s) : PCR based techniques

FRANCE

PAYS DE LA LOIRE
ANGERS

Accreditation
Diagnostic de l'ataxie cérebelleuse autosomique dominante type 3 (gène ATXN3)
CHU d'Angers
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, Deletion / Duplication analysis
Technique(s) : PCR based techniques

FRANCE

PAYS DE LA LOIRE
ANGERS

Accreditation
Diagnostic de l'ataxie cérebelleuse autosomique dominante type 12 (gène PPP2R2B)
CHU d'Angers
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, Deletion / Duplication analysis
Technique(s) : PCR based techniques

FRANCE

PAYS DE LA LOIRE
ANGERS

Accreditation
Diagnostic de l'ataxie cérebelleuse autosomique dominante type 17 (gène TBP)
CHU d'Angers
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, Deletion / Duplication analysis
Technique(s) : PCR based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnostic de l'ataxie cérebelleuse autosomique dominante type 2 (gène ATXN2)
AP-HP.Sorbonne Université - Hôpital de la 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

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnostic de l'ataxie cérebelleuse autosomique dominante type 3 (gène ATXN3)
AP-HP.Sorbonne Université - Hôpital de la 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

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnostic de l'ataxie cérebelleuse autosomique dominante type 17 (gène TBP)
AP-HP.Sorbonne Université - Hôpital de la 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

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnostic de l'ataxie cérebelleuse autosomique dominante type 14 (gène PRKCG)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnostic de l'ataxie cérebelleuse autosomique dominante type 28 (gène AFG3L2)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

NOUVELLE AQUITAINE
POITIERS

Accreditation
Diagnostic de l'ataxie spino-cérebelleuse type 2 (gène ATXN2)
CHU de Poitiers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

NOUVELLE AQUITAINE
POITIERS

Accreditation
Diagnostic de l'ataxie spino-cérebelleuse type 3 (gène ATXN3)
CHU de Poitiers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
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

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of autosomal dominant spinocerebellar ataxia (ATXN3 gene: targeted mutation analysis)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of CAPOS syndrome (ATP1A3 gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 1 (ATXN1 gene)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 2 (ATXN2 gene)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 3 (ATXN3 gene)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 17 (TBP gene)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 2 (ATXN2 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 3 (Machado-Joseph Disease) (ATXN3 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 2 (ATXN2 gene)
Sheffield Children's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 3 (ATXN3 gene)
Sheffield Children's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 2 (ATXN2 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

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 3 (ATXN3 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

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 17 (TBP 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

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 3 (ATXN3 gene)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 2 (ATXN2 gene)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 17 (TBP gene)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 12 (PPP2R2B gene)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Thüringen
JENA

Accreditation
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

SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation
Diagnosis of autosomal dominant spinocerebellar ataxia (ATXN1,ATXN10,PPP2R2B,TBP , ATXN2,ATXN3,CACNA1A,ATXN7,ATXN8 genes)
Genetica AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Spinocerebellar ataxia type 17 -SCA17 (TBP gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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
Technique(s) : Sanger sequencing, PCR based techniques

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
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

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
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
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) : NGS sequencing (except WES), Sanger sequencing

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Molecular diagnosis of Autosomal Dominant Cerebellar Ataxia type 1 (ADCAI) - SCA1, SCA2 and SCA3 (ATXN1, ATXN2 and ATXN3 genes)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Diagnosis of Spinocerebellar Ataxia type 1, 2, 3, 6, 7, 17, 19, 28 and 35 (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, KCND3, AFG3L2 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

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Movement Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Hearing Impairment (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Diagnosis of Metabolic Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

GERMANY

Hamburg
HAMBURG

Accreditation
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

GERMANY

Bayern
MARTINSRIED/PLANEGG

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

GERMANY

Baden-Württemberg
KARLSRUHE

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

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 12 (PPP2R2B gene)
Sheffield Children's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of mitochondriopathies (NGS screening panel, 396 genes)
CeGaT GmbH
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)

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
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)
SYNLAB MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
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) : Targeted mutation analysis
Technique(s) : PCR based techniques

CANADA

Manitoba
WINNIPEG

Accreditation
Molecular Diagnosis of Spinocerebellar Ataxia Type 3 (ATXN3 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

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, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of spinocerebellar ataxia type 8 (ATXN8 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7, 8, 12 , 17 (ATXN1-3, ATXN7, ATXN8OS, CACNA1A, PPP2R2B, TBP genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing, PCR based techniques

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of spinocerebellar ataxia type 18 (IFRD1 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of CAPOS syndrome (ATP1A3 gene)
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

GERMANY

Bayern
MÜNCHEN

Accreditation
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

GERMANY

Bayern
MARTINSRIED/PLANEGG

Accreditation
Diagnosis of hereditary ataxia (NGS panel, 103 genes)
MVZ Martinsried GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

NOUVELLE AQUITAINE
POITIERS

Accreditation
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

FRANCE

NOUVELLE AQUITAINE
POITIERS

Accreditation
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

FRANCE

NOUVELLE AQUITAINE
LIMOGES

Accreditation
Diagnosis of Charcot-Marie-Tooth disease and differential Diagnosis neuropathies: dHMN and dHSN (Panel)
CHU de Limoges - Hôpital Dupuytren
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

FRANCE

GRAND-EST
STRASBOURG

Accreditation
Diagnosis of intellectual disability (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)

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
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)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of mitochondrial diseases (Panel)
Hôpital Necker-Enfants Malades
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)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of skin diseases (Panel)
Hôpital Necker-Enfants Malades
Purpose(s) : Antenatal diagnosis, 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, Uniparental disomy study, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, Microsatellite analysis

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of intellectual disability (Panel)
Hôpital Necker-Enfants Malades
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)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of corpus callosum agenesis or dysgenesis syndrome (Panel)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of mitochondrial diseases (Panel)
AP-HP.Sorbonne Université - Hôpital de la 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, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation
Diagnosis of mitochondrial diseases (Panel)
CHU de Nice - Hôpital l'Archet 2
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

FRANCE

NOUVELLE AQUITAINE
POITIERS

Accreditation
Diagnosis of intellectual disability (Panel ID275)
CHU de Poitiers
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)

FRANCE

PAYS DE LA LOIRE
ANGERS

Accreditation
Diagnosis of optic neuropathy (Panel)
CHU d'Angers
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)

FRANCE

PAYS DE LA LOIRE
ANGERS

Accreditation
Diagnosis of mitochondrial diseases (Panel)
CHU d'Angers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

GERMANY

Bayern
MÜNCHEN

Accreditation
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)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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
Technique(s) : PCR based techniques

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
Technique(s) : PCR based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of neurogenetic and neuromuscular diseases (NGS panel, 291 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

BRETAGNE
BREST

Accreditation
Diagnosis of intellectual disability (Panel)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Diagnosis of Dementia (panel)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Diagnosis of Epilepsy (gene panel)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

CENTRE-VAL DE LOIRE
TOURS

Accreditation
Diagnosis of intellectual disability (Panel ID286)
CHRU de Tours - Hôpital Bretonneau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnostic des ataxies spinocérebelleuses type 1, 2, 3, 6 (gènes ATXN1, ATXN2, ATXN3, CACNA1A)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of Mitochondriopathies (NGS screening panel, 243 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)

ESTONIA

Tartu
TARTU

Accreditation
Molecular diagnosis of spinocerebellar ataxia (panel)
Asper Biogene
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Vision Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of skin diseases (NGS screening panel, 253 genes)
CeGaT GmbH
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)

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of rare neurodegenerative diseases and movment disorder (NGS screening panel, 351 genes)
CeGaT GmbH
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)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of ataxia and related disorders (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)

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Diagnosis of Ataxia, Deafness and Narcolepsy (DNMT1 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

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Diagnosis of CAPOS Syndrome (ATP1A3 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

ESTONIA

Tartu
TARTU

Accreditation
Molecular diagnosis of mitochondrial diseases (panel)
Asper Biogene
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of Parkinson disease (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES)

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Diagnosis of cerebral palsy (gene panel)
Centrum Medische Genetica - UZA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of autosomal dominant cerebellar ataxia (panel)
Hospital Universitari de Bellvitge
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Diagnosis of spinocerebellar ataxia type 13 (KCNC3 gene)
Institut de Pathologie et de 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)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of isolated or syndromic deafness (Panel)
Hôpital Necker-Enfants Malades
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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of spinocerebellar ataxia type 36 (NOP56 gene)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s) : 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

BELGIUM

OOST-VLAANDEREN
GENT

Accreditation
Diagnosis of ataxia and spastic paraplegia (gene panel)
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of rare ataxia and hereditary spastic paraplegia (gene panel)
Erasme Hospital - ULB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of rare genetic skin diseases (gene panel)
Erasme Hospital - ULB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Sachsen
DRESDEN

Accreditation
Diagnosis of ataxia (NGS screening panel, 92 genes)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
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

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of neurodevelopmental disorders (gene panel)
Erasme Hospital - ULB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

ITALY

TRENTINO ALTO ADIGE
ROVERETO

Accreditation
Diagnosis of genodermatosis characterized by keratinization disorders [panel of genes]
MAGI'S LAB srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

ITALY

TRENTINO ALTO ADIGE
ROVERETO

Accreditation
Diagnosis of cerebellar diseases [panel of genes]
MAGI'S LAB srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of rare ataxia (gene panel)
UZ Leuven - Campus Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of mitochondrial diseases, nuclear based (gene panel)
Universitair Ziekenhuis Brussel
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of neurodevelopmental disorders (gene panel)
Universitair Ziekenhuis Brussel
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of intellectual disabilities (gene panel)
Cliniques universitaires Saint-Luc - UCLouvain
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Diagnosis of intellectual disabilities (gene panel)
Centrum Medische Genetica - UZA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of developmental abnormalities and intellectual disability (Whole exome)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

FRANCE

BRETAGNE
BREST

Accreditation
Diagnosis of intellectual disability (Whole exome)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

FRANCE

CENTRE-VAL DE LOIRE
TOURS

Accreditation
Diagnosis of intellectual disability (Whole exome)
CHRU de Tours - Hôpital Bretonneau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Diagnosis of autosomal dominant cerebellar ataxia (NGS panel, 36 genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
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)

FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Accreditation
Diagnosis of ataxia (Panel)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Diagnosis of ataxia (Panel)
Universität Zürich
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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, Array based techniques, Whole Exome Sequencing (WES)

FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation
Diagnosis of intellectual disability (Panel)
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

FRANCE

NORMANDIE
CAEN

Accreditation
Diagnosis of mitochondrial diseases by nuclear gene mutation (Panel)
CHU de Caen - Hôpital de la Côte de Nacre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

PORTUGAL

NORTE
PORTO

Accreditation
Molecular diagnosis of Huntington (HD) and Huntinton-like diseases (HDL1, HDl2, HDL4) (HD, PRNP, JPH3 and TBP genes): target mutation analysis - CAG expansion for all genes and fragments analysis for HTT e PRNP genes
Instituto de Biologia Molecular e Celular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

UNITED KINGDOM

Antrim and Newtownabbey
BELFAST

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 1 (ATXN1 gene)
Belfast City Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 1 (ATXN1 gene)
Addenbrooke's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NORWAY

Vestlandet
BERGEN

Accreditation
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
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

UNITED KINGDOM

Antrim and Newtownabbey
BELFAST

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 2 (ATXN2 gene)
Belfast City Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Antrim and Newtownabbey
BELFAST

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 3 (Machado-Joseph Disease) (ATXN3 gene)
Belfast City Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Antrim and Newtownabbey
BELFAST

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 17 (TBP gene)
Belfast City Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 2 (ATXN2 gene)
Addenbrooke's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 3 (ATXN3 gene)
Addenbrooke's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 17 (TBP gene)
Addenbrooke's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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
Technique(s) : NGS sequencing (except WES)

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Spinocerebellar Ataxia type 1 (ATXN1 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

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Spinocerebellar Ataxia type 2 (ATXN2 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

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Spinocerebellar Ataxia type 3 (ATXN3 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

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Spinocerebellar Ataxia type 8 (ATXN8, ATXNOS8 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

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Spinocerebellar Ataxia type 17 (TPB 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

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of familial paroxysmal ataxia (CACNA1A gene)
Hôpital Saint Louis AP-HP
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, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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 - Istituto di Farmacologia Traslazionale
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

GERMANY

Hessen
GIEßEN

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) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

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)
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Diagnosis of autosomal dominant cerebellar ataxia (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, PPP2R2B, TBP genes)
Hospital Clínico Universitario de Santiago
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

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

GERMANY

Bayern
REGENSBURG

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

SPAIN

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

SPAIN

Cataluña
BARCELONA

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

ITALY

PIEMONTE
TORINO

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

GERMANY

Niedersachsen
OSNABRÜCK

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

AUSTRIA

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

SPAIN

Madrid
MADRID

Diagnosis of autosomal dominant spinocerebellar ataxia types 1, 2, 3, 6 and 7 (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7 genes)
Hospital Universitario 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

DENMARK

Jylland
AARHUS

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

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
Technique(s) : Sanger sequencing, PCR based techniques, Microsatellite analysis

UNITED KINGDOM

Lothian
EDINBURGH

Molecular diagnosis of Spinocerebellar Ataxia type 1 (ATXN1 gene)
Western General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

ITALY

EMILIA ROMAGNA
FERRARA

Diagnosis of spinocerebellar ataxia (SCA 1, 2, 3, 6, 7) (ATX1, ATX2, ATX3, ATX6, ATX7 genes)
A.O.U. Sant'Anna - Polo Chimico-Bio-Medico
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

GERMANY

Bayern
BAD STEBEN

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

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

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

SPAIN

Cataluña
BARCELONA

Diagnosis of the spinocerebellar ataxia type 2 (ATXN2 gene; SNP array)
DiNA Science
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics, Other
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

ITALY

PIEMONTE
TORINO

Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA 13, 15, 28) (KCNC3, ITPR1, AFG3L2 genes)
A.O.U. Città della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of spinocerebellar ataxia type 2 (ATXN2 gene)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

POLAND

Poznan
POZNAN

Molecular diagnosis of spinocerebellar ataxia type 1 (ATXN1 gene: CAG repeat identification)
Centrum Genetyki Medycznej GENESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Poznan
POZNAN

Molecular diagnosis of spinocerebellar ataxia type 2 (ATXN2 gene: CAG repeat identification)
Centrum Genetyki Medycznej GENESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Poznan
POZNAN

Molecular diagnosis of spinocerebellar ataxia type 3 (ATXN3 gene: CAG repeat identification)
Centrum Genetyki Medycznej GENESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWEDEN

Region Skåne
LUND

Diagnosis of spinocerebellar ataxia type 1 (ATXN1 gene: fragment analysis)
Skånes Universitetssjukhus -Klinisk Genetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SWEDEN

Region Skåne
LUND

Diagnosis of spinocerebellar ataxia type 2 (ATXN2 gene: fragment analysis)
Skånes Universitetssjukhus -Klinisk Genetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SWEDEN

Region Skåne
LUND

Diagnosis of spinocerebellar ataxia type 3 (ATXN3 gene: fragment analysis)
Skånes Universitetssjukhus -Klinisk Genetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Cataluña
BADALONA

Diagnosis of spinocerebellar ataxia type 13 (KCNC3 gene)
Instituto de Investigación Germans Trias i Pujol
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
BADALONA

Diagnosis of spinocerebellar ataxia type 14 (PRKCG gene)
Instituto de Investigación Germans Trias i Pujol
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
BADALONA

Diagnosis of spinocerebellar ataxia type 15/16/29 (ITPR1 gene)
Instituto de Investigación Germans Trias i Pujol
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
BADALONA

Diagnosis of spinocerebellar ataxia type 27 (FGF14 gene)
Instituto de Investigación Germans Trias i Pujol
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
BADALONA

Diagnosis of spinocerebellar ataxia type 28 (AFG3L2 gene)
Instituto de Investigación Germans Trias i Pujol
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Andalucía
MÁLAGA

Diagnosis of spinocerebellar ataxia type 12 (PPP2R2B gene)
IMEGEN - Delegación Málaga
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

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

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of spinocerebellar ataxia (gene panel)
LabGenetics - 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

UNITED KINGDOM

Lothian
EDINBURGH

Molecular diagnosis of Spinocerebellar Ataxia type 2 (ATXN2 gene)
Western General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Lothian
EDINBURGH

Molecular diagnosis of Machado-Joseph Disease (Spinocerebellar Ataxia type 3) (ATXN3 gene)
Western General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Lothian
EDINBURGH

Molecular diagnosis of Spinocerebellar Ataxia type 8 (ATXN8 gene)
Western General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
BARCELONA

Diagnosis of spinocerebellar ataxia type 3 (ATXN3 gene; SNP array)
DiNA Science
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Cataluña
BADALONA

Diagnosis of spinocerebellar ataxia type 23 (PDYN gene)
Instituto de Investigación Germans Trias i Pujol
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

ITALY

LIGURIA
GENOVA

Diagnosis of spinocerebellar ataxia type 17 (TBP gene)
IRCCS Ospedale Policlinico San Martino - IST - DIMI
Purpose(s) : Antenatal diagnosis, 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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

SPAIN

Cataluña
BADALONA

Diagnosis of spinocerebellar ataxia type 1 (ATXN1 gene)
Instituto de Investigación 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

SPAIN

Cataluña
BADALONA

Diagnosis of spinocerebellar ataxia type 2 (ATXN2 gene)
Instituto de Investigación 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

SPAIN

Cataluña
BADALONA

Diagnosis of spinocerebellar ataxia type 3 (ATXN3 gene)
Instituto de Investigación 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

SPAIN

Cataluña
BADALONA

Diagnosis of spinocerebellar ataxia type 12 (PPP2R2B gene)
Instituto de Investigación 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

SPAIN

Cataluña
BADALONA

Diagnosis of spinocerebellar ataxia type 17 (TBP gene)
Instituto de Investigación 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

GERMANY

Sachsen
DRESDEN

Diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7, 8, 11, 12, 15, 17, 19, 22, 23, 28 and 29 (AFG3L2, ATXN1-3, ATXN7, CACNA1A, ITPR1, KCND3, PDYN, PPP2R2B, TBP, TTBK2 genes)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

CAMPANIA
NAPOLI

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
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
BADALONA

Diagnosis of spinocerebellar ataxia type 36 (NOP56 gene)
Instituto de Investigación 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

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of spinocerebellar ataxia (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8OS, ATXN10, FGF14, PLEKHG4, TBP genes)
IMEGEN - Delegación Valencia
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, PCR based techniques

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of spinocerebellar ataxia type 1 (ATXN1 gene)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of spinocerebellar ataxia type 3 (ATXN3 gene)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

GERMANY

Sachsen
LEIPZIG

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

SPAIN

Cataluña
BADALONA

Diagnosis of spinocerebellar ataxia type 19/22 (KCND3 gene)
Instituto de Investigación Germans Trias i Pujol
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
TERRASSA

Diagnosis of autosomal dominant cerebellar ataxia (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, 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

SPAIN

La Rioja
LOGROÑO

Diagnosis of spinocerebellar ataxia type 1 (ATXN1 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

SPAIN

La Rioja
LOGROÑO

Diagnosis of spinocerebellar ataxia type 2 (ATXN2 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

SPAIN

La Rioja
LOGROÑO

Diagnosis of spinocerebellar ataxia type 3 (ATXN3 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

SPAIN

La Rioja
LOGROÑO

Diagnosis of spinocerebellar ataxia type 8 (ATXN8 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

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of spinocerebellar ataxia type 1 (ATXN1 gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of spinocerebellar ataxia type 2 (ATXN2 gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of spinocerebellar ataxia type 3 (ATXN3 gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of spinocerebellar ataxia type 8 (ATXN8OS gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of spinocerebellar ataxia type 12 (PPP2R2B gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of spinocerebellar ataxia type 14 (PRKCG gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of spinocerebellar ataxia type 17 (TBP gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Asturias
OVIEDO

Diagnosis of genetic deafness (panel)
IMOMA - Instituto de Medicina Oncológica y Molecular de Asturias
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)

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
Technique(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of spinocerebellar ataxia type 1 (ATXN1 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of spinocerebellar ataxia type 12 (PPP2R2B gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of spinocerebellar ataxia type 17 (TBP gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of spinocerebellar ataxia type 2 (ATXN2 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of Machado-Joseph disease type 3 (ATXN3 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of spinocerebellar ataxia type 8 (ATXN8OS gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of spinocerebellar ataxia type 14 (PRKCG gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

GERMANY

Sachsen
DRESDEN

Diagnosis of CAPOS syndrome (ATP1A3 gene)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of paroxystic channelopathies of the central nervous system (Panel)
Hôpital Saint Louis AP-HP
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of spinocerebellar ataxia type 18 (IFRD1 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of spinocerebellar ataxia type 19/22 (KCND3 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of spinocerebellar ataxia type 36 (NOP56 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of spinocerebellar ataxia type 1 (ATXN1 gene)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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
Technique(s) : PCR based techniques

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of spinocerebellar ataxia type 17 (TBP gene)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of spinocerebellar ataxia type 2 (ATXN2 gene)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of spinocerebellar ataxia type 3 (ATXN3 gene)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of spinocerebellar ataxia type 36 (NOP56 gene)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

ITALY

MOLISE
POZZILLI

Diagnosis of rare hereditary ataxia [panel of genes]
Istituto Neurologico Mediterraneo - IRCCS Neuromed
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), PCR based techniques

ITALY

MOLISE
POZZILLI

Molecular diagnosis of Machado-Joseph disease (SCA3 gene)
Istituto Neurologico Mediterraneo - IRCCS Neuromed
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
ALICANTE

Diagnosis of spinocerebellar ataxia type 3 (ATXN3 gene)
Instituto Bernabeu Biotech
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

ITALY

VENETO
PADOVA

Diagnosis of intellectual disability syndromes [panel of genes]
Research&Innovation S.r.l. (R&I Genetics)
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) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

SPAIN

Madrid
MADRID

Diagnosis of syndromic genetic deafness (panel)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
BADALONA

Diagnosis of spinocerebellar ataxia type 34 (ELOVL4 gene)
Instituto de Investigación Germans Trias i Pujol
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
BADALONA

Diagnosis of spinocerebellar ataxia type 35 (TGM6 gene)
Instituto de Investigación Germans Trias i Pujol
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of spinocerebellar ataxia type 1 (ATXN1 gene)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of spinocerebellar ataxia type 2 (ATXN2 gene)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of spinocerebellar ataxia type 3 (ATXN3 gene)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of spinocerebellar ataxia type 8 (ATXN8 gene)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of spinocerebellar ataxia type 12 (PPP2R2B gene)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of spinocerebellar ataxia type 17 (TBP gene)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of spinocerebellar ataxia type 36 (NOP56 gene)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Cataluña
BARCELONA

Diagnosis of autosomal dominant spinocerebellar ataxia (ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, TBP genes)
Hospital de la Santa Creu i Sant Pau
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing, PCR based techniques

SPAIN

La Rioja
LOGROÑO

Diagnosis of autosomal dominant cerebellar ataxia (ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, CACNA1A, PPP2R2B, TBP genes)
Hospital San Pedro
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

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of ataxia (panel)
Hospital Sant Joan de Déu Barcelona
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, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of Rett syndrome and epilepsy (panel)
Hospital Sant Joan de Déu Barcelona
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, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of muscular diseases (panel)
Hospital Sant Joan de Déu Barcelona
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, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of intellectual disability (panel)
Hospital Sant Joan de Déu Barcelona
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, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of epilepsy (panel)
Hospital Sant Joan de Déu Barcelona
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) : NGS sequencing (except WES)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of vitreoretinopathy (panel)
Hospital Sant Joan de Déu Barcelona
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) : NGS sequencing (except WES)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of ataxia with dementia (panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
TRES CANTOS

Diagnosis of mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies (panel - 176 genes)
Centro de estudios genéticos ATG Medical
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
TRES CANTOS

Diagnosis of ataxia (panel - 150 genes)
Centro de estudios genéticos ATG Medical
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
TRES CANTOS

Diagnosis of autosomal dominant cerebellar ataxia (panel)
Centro de estudios genéticos ATG Medical
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
TRES CANTOS

Diagnosis of spinocerebellar ataxia type 17 (TBP gene / CAG triplet expansion)
Centro de estudios genéticos ATG Medical
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of spinocerebellar ataxia type 1 (ATXN1 gene)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of spinocerebellar ataxia type 3 (ATXN3 gene)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of spinocerebellar ataxia type 8 (ATXN8OS gene)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of spinocerebellar ataxia type 12 (PPP2R2B gene)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of spinocerebellar ataxia type 17 (TBP gene)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of spinocerebellar ataxia type 8 (ATXN8OS gene)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Galicia
A CORUÑA

Diagnosis of mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies (panel - 174 genes)
Health In Code
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)

SPAIN

Baleares
PALMA DE MALLORCA

Diagnosis of spinocerebellar ataxia type 1 (ATXN1 gene)
Hospital Universitari Son Espases
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

SPAIN

Baleares
PALMA DE MALLORCA

Diagnosis of spinocerebellar ataxia type 2 (ATXN2 gene)
Hospital Universitari Son Espases
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

SPAIN

Baleares
PALMA DE MALLORCA

Diagnosis of spinocerebellar ataxia type 3 (ATXN3 gene)
Hospital Universitari Son Espases
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

SPAIN

Baleares
PALMA DE MALLORCA

Diagnosis of spinocerebellar ataxia type 8 (ATXN8 gene)
Hospital Universitari Son Espases
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

SPAIN

Baleares
PALMA DE MALLORCA

Diagnosis of spinocerebellar ataxia type 12 (PPP2R2B gene)
Hospital Universitari Son Espases
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

SPAIN

Baleares
PALMA DE MALLORCA

Diagnosis of spinocerebellar ataxia type 17 (TBP gene)
Hospital Universitari Son Espases
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

SPAIN

Madrid
MADRID

Diagnosis of autosomal dominant cerebellar ataxia (ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A genes)
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Aragón
ZARAGOZA

Diagnosis of spinocerebellar ataxia (ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, ATXN8OS, CACNA1A genes)
Blackhills Diagnostic Resources S.L.U.
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

ITALY

EMILIA ROMAGNA
FERRARA

Diagnosis of neuromuscular diseases [panel of genes]
A.O.U. Sant'Anna - Polo Chimico-Bio-Medico
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)

FRANCE

BOURGOGNE-FRANCHE-COMTE
DIJON

Diagnosis of developmental abnormalities and intellectual disability - Neurodegenerative and sensory diseases(Whole exome)
CHU de Dijon - Plateau technique de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of autosomal dominant cerebellar ataxia (panel)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of cerebellar ataxia (panel)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of cerebellar ataxia (detection of expanded repeats in ATXN1, ATXN2, ATXN7, ATXN8, CACNA1A, NOP56, PPP2R2B, TBP genes)
Sistemas Genómicos S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of rare hereditary ataxia (panel)
Sistemas Genómicos S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of rare dementia (panel)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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

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

ITALY

VENETO
VERONA

Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA 8, 12, 17) (SCA8, PPP2R2B, TBP genes)
Centro Airett Ricerca e Innovazione - CARI
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing, PCR based techniques

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

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

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 Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

TOSCANA
FIRENZE

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

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

AUSTRIA

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

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

ITALY

LOMBARDIA
BOSISIO PARINI

Diagnosis of autosomal dominant spinocerebellar ataxia (SCA 1,2)
IRCCS "E. Medea"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

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

CROATIA

CROATIA
ZAGREB

Molecular diagnosis of Spinocerebellar Ataxia type 1
Zagreb Clinical Hospital Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

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

CZECH REPUBLIC

Capital City Prague
PRAHA

Postnatal molecular diagnosis of spinocerebellar ataxias type 1, 2, 6 and 7 (ATXN1, ATXN2, CACNA1A and ATXN7 genes)
University Hospital Motol
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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
Technique(s) : PCR based techniques

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of spinocerebellar ataxia type 1 (ATXN1 gene)
Medgene s.r.o.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of spinocerebellar ataxia type 2 (ATXN2 gene)
Medgene s.r.o.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of spinocerebellar ataxia type 3 (ATXN3 gene)
Medgene s.r.o.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of spinocerebellar ataxia type 8 (ATXN8 gene)
Medgene s.r.o.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of spinocerebellar ataxia type 12 (PP2R2B gene)
Medgene s.r.o.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of spinocerebellar ataxia type 14 (PRKCG gene)
Medgene s.r.o.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of spinocerebellar ataxia type 17 (TBP gene)
Medgene s.r.o.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CROATIA

CROATIA
ZAGREB

Molecular diagnosis of Spinocerebellar Ataxia type 2
Zagreb Clinical Hospital Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CROATIA

CROATIA
ZAGREB

Molecular diagnosis of Spinocerebellar Ataxia type 3
Zagreb Clinical Hospital Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Warszawa
WARSZAWA

Molecular diagnosis of spinocerebellar ataxia type 1 (gen ATXN1)
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

POLAND

Warszawa
WARSZAWA

Molecular diagnosis of spinocerebellar ataxia type 2 (ATXN2 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

POLAND

Warszawa
WARSZAWA

Molecular diagnosis of spinocerebellar ataxia type 3 (ATXN3 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

POLAND

Warszawa
WARSZAWA

Molecular diagnosis of spinocerebellar ataxia type 12 (PPP2R2B 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

POLAND

Warszawa
WARSZAWA

Molecular diagnosis of spinocerebellar ataxia type 17 (TBP 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

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

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

PORTUGAL

NORTE
PORTO

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
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

PORTUGAL

NORTE
PORTO

Molecular diagnosis of spinocerebellar ataxia type 10, 13, 14, 15/16 (ATXN10, KCNC3, PRKCG, ITPR1 genes: Sequencing of the entire coding region for all genes, trinucleotide repeat expansions and TP-PCR for ATXN10 gene)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : PCR based techniques

CANADA

Alberta
CALGARY

Molecular Diagnosis of Spinocerebellar Ataxia Type 17 (TBP 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

CANADA

Alberta
CALGARY

Molecular Diagnosis of Spinocerebellar Ataxia Type 8 (ATXN8OS 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

CANADA

Alberta
CALGARY

Molecular Diagnosis of Spinocerebellar Ataxia Type 3 (ATXN3 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

CANADA

Alberta
CALGARY

Molecular Diagnosis of Spinocerebellar Ataxia Type 2 (ATXN2 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

CANADA

Alberta
CALGARY

Molecular Diagnosis of Spinocerebellar Ataxia Type 1 (ATXN1 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

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Autosomal dominant cerebellar ataxia, deafness and narcolepsy (DNMT1 gene: sequenciang of the entire cosing region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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
Technique(s) : PCR based techniques

SPAIN

Andalucía
SEVILLA

Diagnosis of spinocerebellar ataxia type 17 (SCA17 gene)
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

AUSTRIA

WIEN
WIEN

Molecular diagnosis of CAPOS syndrome (ATP1A3 gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
BARCELONA

Diagnosis of inherited visual disorders
Universitat de Barcelona. Facultat de Biologia
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), Whole Exome Sequencing (WES)

PORTUGAL

NORTE
PORTO

Diagnosis of Spinocerebellar ataxia 27 (SCA27) (FGF14 gene)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

PORTUGAL

NORTE
PORTO

Diagnosis of Spinocerebellar ataxia 35, AD (SCA35) (TGM6 gene: sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

PORTUGAL

NORTE
PORTO

Diagnosis of Spinocerebellar ataxia, type 28 (AFG3L2 gene)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

PORTUGAL

NORTE
PORTO

Diagnosis of Spinocerebellar ataxia, type 4 (PLEKHG4 gene)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

PORTUGAL

NORTE
PORTO

Diagnosis of spinocerebellar ataxia 23 (PDYN gene)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

PORTUGAL

NORTE
PORTO

Diagnosis of spinocerebellar ataxia type 17 (TBP gene)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques