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FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of spinocerebellar ataxia type1, 2, 3, 6, 7 and 17 (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7 and TBP genes)
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

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

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

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

GERMANY

Sachsen
DRESDEN

Accreditation
Diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

ESTONIA

Tartu
TARTU

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

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Diagnosis of familial hemiplegic migraine (ATP1A2, CACNA1A and SCN1A genes)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of encephalopathy due to GLUT1 deficiency (Panel)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
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, MLPA based techniques

NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation
Molecular diagnosis of Episodic Ataxia, type 2 (CACNA1A gene)
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation
Molecular diagnosis of Familial Hemiplegic Migrane (CACNA1A and ATP1A2 gene)
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Asturias
OVIEDO

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

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

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

Greater London
LONDON

Accreditation
Molecular diagnosis of Familial hemiplegic migraine (CACNA1A gene)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of familial hemiplegic migraine (ATP1A2, CACNA1A and SCN1A 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

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

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of episodic ataxia type 1 and 2 (CACNA1A and KCNA1 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

GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation
Diagnosis of episodic ataxia type 1 and 2 (CACNA1A and KCNA1 genes)
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Diagnosis of episodic ataxia type 2 (CACNA1A gene)
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
Molecular diagnosis of SCA6: Spinocerebellar ataxia type 6 (CACNA1A gene, trinucleotide repeats)
Universitair Ziekenhuis Brussel - UZ 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
Molecular diagnosis of SCA6: Spinocerebellar ataxia type 6 (CACNA1A gene)
Centrum Medische Genetica - UZA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

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

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Diagnosis of spinocerebellar ataxia type 6 (CACNA1A 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

GERMANY

Bayern
NEU-ULM

Accreditation
Diagnosis of familial hemiplegic migraine (ATP1A2, CACNA1A and SCN1A genes)
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FINLAND

Finland
TURKU

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

FRANCE

PAYS DE LA LOIRE
ANGERS

Accreditation
Diagnosis of autosomal dominant spinocerebellar ataxia, type 6 (CACNA1A gene)
CHU d'Angers
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : PCR based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of autosomal dominant spinocerebellar ataxia type 6 (CACNA1A gene)
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
Molecular diagnosis of Familial Paroxysmal Ataxia (CACNA1A gene: selected exons analysed in 2 stages of sequencing. In stage 1: 6, 16, 17, 25, 26, 27, 28, 29, 30, 32, 33, 34, 36, 41, 42 & 42. In stage 2: 4, 5, 11, 12, 13, 14, 19, 20, 22, 23, 24, 35, 37 & 45)
Sheffield Children's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
Molecular diagnosis of Familial or Sporadic Hemiplegic Migraine (CACNA1A gene: selected exons analysed in 2 stages of sequencing. In stage 1: 6, 16, 17, 25, 26, 27, 28, 29, 30, 32, 33, 34, 36, 41, 42 & 42. In stage 2: 4, 5, 11, 12, 13, 14, 19, 20, 22, 23, 24, 35, 37 & 45)
Sheffield Children's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons

NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation
Molecular diagnosis of Familial Hemiplegic Migraine (CACNA1A and ATP1A2 gene)
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Diagnosis of episodic ataxia type 1, 2 and 5 (CACNA1A, CACNB4, KCNA1 genes)
Zentrum für Humangenetik Mannheim
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

GERMANY

Bayern
NEU-ULM

Accreditation
Diagnosis of episodic ataxia type 1 and 2 (CACNA1A and KCNA1 genes)
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

UNITED KINGDOM

South Glamorgan
CARDIFF

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

UNITED KINGDOM

Merseyside
LIVERPOOL

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

UNITED KINGDOM

South Yorkshire
SHEFFIELD

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

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

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

UNITED KINGDOM

Greater London
LONDON

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

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

GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation
Diagnosis of familial hemiplegic migraine (CACNA1A gene)
Ruhr-Universität Bochum
Purpose(s) : Post-natal 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 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 3 (ADCAIII) - SCA6 (CACNA1A gene)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Diagnosis of familial hemiplegic migraine (ATP1A2, CACNA1A and SCN1A 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

Baden-Württemberg
FREIBURG

Accreditation
Diagnosis of episodic ataxia type 1 and 2 (CACNA1A and KCNA1 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

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Early Infantile Epileptic Encephalopathy type 1, 2, 3, 4, 5, 7, 8, 9, 11, 12, 13, 14, 15, 16 and 42 (ARX, CDKL5, SLC25A22, STXBP1, SPTAN1, KCNQ2, ARHGEF9, PCDH19, SCN2A, PLCB1, SCN8A, KCNT1, ST3GAL3, TBC1D24 and CACNA1A gene)
Radboudumc - Radboud universitair medisch centrum
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

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Episodic Ataxia type 1 and 2 (KCNA1 and CACNA1A gene)
Radboudumc - Radboud universitair medisch centrum
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

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

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

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

GERMANY

Baden-Württemberg
KARLSRUHE

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

PORTUGAL

NORTE
PORTO

Accreditation
Molecular diagnosis of episodic ataxia type 1 and 2 (KCNA1 and CACN1A genes: analysis of the entire coding region and deletion/duplication analysis by MLPA)
Instituto de Biologia Molecular e Celular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

PORTUGAL

NORTE
PORTO

Accreditation
Molecular diagnosis of familiar hemiplegic migraine: FHM1, FHM2, FHM3 (CACNA1A, ATP1A2, SCN1A genes by sequencing of entire coding region and deletion/duplication analysis by MLPA)
Instituto de Biologia Molecular e Celular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Familial paroxysmal ataxia (CACNA1A gene)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MARTINSRIED

Accreditation
Diagnosis of epilepsy (NGS screening panel: 116 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
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

Baden-Württemberg
KARLSRUHE

Accreditation
Diagnosis of episodic ataxia type 1 and 2 (CACNA1A and KCNA1 genes)
Labor PD Dr. Volkmann und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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
MARTINSRIED

Accreditation
Diagnosis of familial hemiplegic migraine (ATP1A2, CACNA1A and SCN1A genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Epilepsy and related conditions by NGS: Epilepsy gene panel (Please refer to additional information: Genes concerned)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : NGS sequencing (except WES)

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)

PORTUGAL

NORTE
PORTO

Accreditation
Molecular diagnosis of familial hemiplegic migraine (NGS panel for genes ATP1A2, CACNA1A, PRRT2, SCN1A: 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)

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 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 6 (CACNA1A gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Diagnosis of familial hemiplegic migraine (ATP1A2, CACNA1A and SCN1A genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Diagnosis of episodic ataxia type 1 and 2 (CACNA1A and KCNA1 genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7, 8, 12 , 17, 19, 22 (ATXN1-3, ATXN7, ATXN8OS, CACNA1A, KCND3, PPP2R2B, TBP genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of alternating hemiplegia of childhood (ATP1A2, ATP1A3, CACNA1A 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

CANADA

Ontario
TORONTO

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

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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of early-onset epilepsy (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis, Risk assessment
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

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

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Hemiplegic Migraine type 1, 2 and 3 (CACNA1A, ATP1A2 and SCN1A 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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of familial or sporadic hemiplegic migraine (genes CACNA1A, ATP1A2, SCN1A)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of episodic ataxia type 1 and 2 (CACNA1A and KCNA1 genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of hemiplegic migraine (ATP1A2, ATP1A3, CACNA1A, SCN1A genes)
Pränatalmedizin München
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

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 epilepsy (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 leukodystrophies (Panel)
CHU Paris - Hôpital Robert Debré
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

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of epilepsy (Panel)
CHU de Marseille - Hôpital de la Timone
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 neuromuscular junction disease (Panel)
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
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

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

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

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of epileptic encephalopathy (Panel)
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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)
Pränatalmedizin München
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
KÖLN

Accreditation
Diagnosis of spinocerebellar ataxia type 6 (CACNA1A gene)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of myotonic syndrome (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Epilepsy (gene panel; EPI00v16.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of neuromuscular channelopathies (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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)

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of epilepsy (NGS screening panel, 444 genes)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of spinocerebellar ataxia type 1, 2, 3, 6 (ATXN1, ATXN2, ATXN3, CACNA1A genes)
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

Hamburg
HAMBURG

Accreditation
Diagnosis of episodic ataxia type 2 (CACNA1A gene)
Labor Lademannbogen
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

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Periodic Paralysis and Ion Channel Muscle Disease (gene panel; NEM10v16.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Bayern
NEU-ULM

Accreditation
Diagnosis of epilepsies (NGS screening panel: 217 genes)
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Bayern
NEU-ULM

Accreditation
Diagnosis of heart diseases (NGS screening panel: 263 genes)
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Bayern
NEU-ULM

Accreditation
Diagnosis of muscular diseases (NGS screening panel: 102 genes)
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
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)

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of familial or sporadic hemiplegic migraine (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
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, MLPA based techniques

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of hereditary cerebellar ataxia (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
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, MLPA based techniques

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of familial paroxysmal ataxia (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
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, MLPA based techniques

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

SWEDEN

Skane
LUND

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

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of episodic ataxia type 1 and 2 (CACNA1A and KCNA1 genes)
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

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of benign paroxysmal torticollis of infancy (CACNA1A 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

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of familial hemiplegic migraine (ATP1A2, CACNA1A, PRRT2 and SCN1A genes: sequencing)
CeGaT GmbH
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, 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

UNITED KINGDOM

Antrim and Newtownabbey
BELFAST

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

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

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

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of alternating hemiplegia of childhood (ATP1A2, ATP1A3, CACNA1A, SLC1A3 genes)
CeGaT GmbH
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 migraine (NGS screening panel: 9 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 familial and idiopathic epilepsies (NGS screening panel: 31 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 epilepsy and developmental disorder (incl. epileptic encephalopathy) (NGS screening panel: 97 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)

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of familial paroxysmal ataxia (CACNA1A gene)
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Lariboisière
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

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of familial hemiplegic migraine (CACNA1A, ATP1A2, PRRT2 and SCN1A genes)
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Lariboisière
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

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 episodic ataxia type 1, 2, 5, 6 (KCNA1, CACNA1A, CACNB4, SLC1A3 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

SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Diagnosis of autosomal dominant cerebellar ataxia (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, PPP2R2B, TBP genes)
Complejo Hospitalario 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

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

SWITZERLAND

Suisse Alémanique
SCHLIEREN

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

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of familial hemiplegic migraine (ATP1A2, CACNA1A genes)
IRCCS Ospedale San Raffaele
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

AUSTRIA

WIEN
WIEN

Molecular diagnosis of hereditary episodic ataxia (KCNA1, CACNA1A, CACNB4, and SLC1A3 genes)
Praxis für Humangenetik
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 (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

SPAIN

Madrid
MADRID

Diagnosis of autosomal dominant spinocerebellar ataxia: SCA 1, 2, 3, 6, 7 and 8 (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8 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)
Aarhus Universitetshospital - Skejby
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of episodic ataxia type 1 and 2 (CACNA1A and KCNA1 genes)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
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

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of familial paroxysmal ataxia (CACNA1A gene)
IRCCS Ospedale San Raffaele
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. di Ferrara - 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

ITALY

LAZIO
ROMA

Molecular diagnosis of familial hemiplegic migraine (CACNA1A, ATP1A2 genes)
CNR - Istituto di Farmacologia Traslazionale
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

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

GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of familial hemiplegic migraine (CACNA1A and SCN1A genes)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of episodic ataxia type 2 (CACNA1A gene: sequencing / MLPA)
Centogene AG
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

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of benign paroxysmal torticollis of infancy (CACNA1A gene: sequencing / MLPA)
Centogene AG
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

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of familial hemiplegic migraine (CACNA1A gene: sequencing / MLPA)
Centogene AG
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

NOUVELLE AQUITAINE
POITIERS

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

UNITED KINGDOM

Lothian
EDINBURGH

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

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of familial paroxysmal ataxia (CACNA1A gene)
IMEGEN - Delegación Valencia
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

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of familial or sporadic hemiplegic migraine (ATP1A2, CACNA1A, SCN1A genes)
IMEGEN - Delegación Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Sachsen
DRESDEN

Diagnosis of episodic ataxia type 2 (CACNA1A gene: sequencing / MLPA)
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

GERMANY

Sachsen
DRESDEN

Diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7, 8, 11, 12, 15, 17, 23, 28 and 29 (AFG3L2, ATXN1-3, ATXN7, CACNA1A, ITPR1, 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

GERMANY

Sachsen
DRESDEN

Diagnosis of familial hemiplegic migraine (ATP1A2, CACNA1A and SCN1A genes)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal 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

Andalucía
MÁLAGA

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

GERMANY

Berlin
BERLIN

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

SPAIN

La Rioja
LOGROÑO

Diagnosis of hereditary episodic ataxia (KCNA1, CACNA1A genes)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA 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

AUSTRIA

WIEN
WIEN

Molecular diagnosis of familial hemiplegic migraine (CACNA1A, PRRT2, and SCN1A genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

La Rioja
LOGROÑO

Diagnosis of familial or sporadic hemiplegic migraine (CACNA1A gene)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of familial hemiplegic migraine (ATP1A2, CACNA1A and SCN1A genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of familial or sporadic hemiplegic migraine (CACNA1A, ATP1A2 genes)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

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

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 6 (CACNA1A gene)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

PORTUGAL

NORTE
PORTO

Diagnosis of familiar hemiplegic migraine type 1, 2 and 3 (CACNA1A, ATP1A2, SCN1A genes)
CGC Genetics / Centro de Genética Clínica
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

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of familial paroxysmal ataxia (CACNA1A gene / sequencing)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

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

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of familial or sporadic hemiplegic migraine (ATP1A2, CACNA1A, SCN1A genes / sequencing)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Castilla - León
SALAMANCA

Diagnosis of spinocerebellar ataxia type 6 (CACNA1A gene)
IBSAL - Instituto de Investigación Biomédica de Salamanca
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

CANADA

Alberta
CALGARY

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

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

País Vasco
SAN SEBASTIÁN

Diagnosis of hereditary episodic ataxia (CACNA1A, KCNA1 genes)
DNA Data
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

Comunidad Valenciana
ELCHE

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

GERMANY

Sachsen
DRESDEN

Diagnosis of alternating hemiplegia of childhood (ATP1A2, ATP1A3, CACNA1A genes)
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

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

Comunidad Valenciana
ELCHE

Diagnosis of rare epilepsy (panel)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of familial or sporadic hemiplegic migraine (gene panel)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Diagnosis of epilepsy (Panel)
CHU de Lyon HCL - GH Est
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

Diagnosis of paroxystic channelopathies of the central nervous system (Panel)
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Lariboisière
Purpose(s) : Post-natal diagnosis, 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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of hereditary episodic ataxia (CACNA1A, CACNB4, KCNA1, SLC1A3 genes)
Bioarray
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), MLPA 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 6 (CACNA1A gene)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of episodic ataxia type 1 and 2 (CACNA1A and KCNA1 genes)
Klinikum Stuttgart - Standort Olgahospital
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

GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of familial hemiplegic migraine (ATP1A2, CACNA1A and SCN1A genes)
Klinikum Stuttgart - Standort Olgahospital
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

SPAIN

Madrid
MADRID

Diagnosis of epilepsy (panel)
NIMGenetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of hereditary episodic ataxia (CACNA1A gene)
Medizinische Universität Wien
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 familial hemiplegic migraine (SCN1A, ATP1A2, and CACNA1A 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 epilepsy syndrome (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
ESPLUGUES DE LLOBREGAT

Diagnosis of spinocerebellar ataxia type 6 (CACNA1A 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

GERMANY

Rheinland-Pfalz
MAINZ

Diagnosis of episodic ataxia type 2 (CACNA1A gene)
Universitätsmedizin Mainz
Purpose(s) : Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, 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

Madrid
TRES CANTOS

Diagnosis of epilepsy (panel - 515 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 hereditary episodic 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 dyskinesia (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 periodic paralysis (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

Galicia
A CORUÑA

Diagnosis of rare paroxysmal movement disorder (panel - 18 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

Galicia
A CORUÑA

Diagnosis of rare movement disorder (panel - 123 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)

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

LAZIO
ROMA

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

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 Ospedaliera Universitaria Senese - Ospedale 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

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

GERMANY

Bayern
MÜNCHEN

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

GERMANY

Bayern
MÜNCHEN

Diagnosis of familial hemiplegic migraine (CACNA1A gene -on request)
LMU Klinikum der Universität München - Campus Großhadern
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SWEDEN

Stockholms läns landsting
STOCKHOLM

Molecular diagnosis of autosomal dominant spinocerebellar ataxia (SCA1,2,3,6,7)
Karolinska Universitetsjukhuset - Klinisk Genetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

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

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

CZECH REPUBLIC

Capital City Prague
PRAHA

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

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

GERMANY

Bayern
MÜNCHEN

Diagnosis of episodic ataxia type 2 (CACNA1A gene, on request)
LMU Klinikum der Universität München - Campus Großhadern
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

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

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of spinocerebellar ataxia type 6 (CACNA1A 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

CROATIA

CROATIA
ZAGREB

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

POLAND

Warszawa
WARSZAWA

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

GERMANY

Baden-Württemberg
TÜBINGEN

Diagnosis of episodic ataxia type 1 and 2 (CACNA1A and KCNA1 genes)
Hertie-Institut für klinische Hirnforschung (HIH)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

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

SPAIN

Cataluña
BADALONA

Diagnosis of episodic ataxia type 2 (CACNA1A gene)
Fundació Institut d'Investigació en Ciències de la Salut 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

LOMBARDIA
PAVIA

Molecular diagnosis of familial hemiplegic migraine (CACNA1A and ATP1A2 genes)
Fondazione Istituto Neurologico "C. Mondino" - IRCCS
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, MLPA based techniques

SPAIN

Castilla - León
SALAMANCA

Diagnosis of familial paroxysmal ataxia (CACNA1A gene)
Innovagenomics, S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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 familial paroxysmal ataxia (CACNA1A gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
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) : 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

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of familial or sporadic hemiplegic migraine (ATP1A2, CACNA1A, SCN1A genes)
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) : Sanger sequencing

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

SPAIN

Cataluña
BADALONA

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

SPAIN

Cataluña
BADALONA

Diagnosis of familial or sporadic hemiplegic migraine (CACNA1A, ATP1A2 and SCNA1 genes)
Fundació Institut d'Investigació en Ciències de la Salut 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

TOSCANA
FIRENZE

Postnatal molecular diagnosis of familial or sporadic hemiplegic migraine (sequence analysis of the entire coding region of CACNA1A gene)
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

ITALY

MOLISE
POZZILLI

Molecular diagnosis of familial or sporadic hemiplegic migraine (ATP1A2, SCN1A and CACNA1A genes)
Istituto Neurologico Mediterraneo - IRCCS Neuromed
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)

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

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of hereditary episodic ataxia (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
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
SAN SEBASTIÁN DE LOS REYES

Diagnosis of familial or sporadic hemiplegic migraine (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)

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of early-onset ataxies and pontocereous hypoplasias (Panel)
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
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