Search for a diagnostic test
133 Result(s)
Caption
: Accreditation
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Nordrhein-Westfalen
BOCHUM
Molecular diagnosis of Friedreich ataxia (FXN gene)
Ruhr-Universität Bochum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing
Niedersachsen
GÖTTINGEN
Molecular diagnosis of Friedreich ataxia (FXN gene)
Institut für Humangenetik der Universität Göttingen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing
Hamburg
HAMBURG
Molecular diagnosis of Friedreich ataxia (FXN gene)
Labor Lademannbogen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing
Baden-Württemberg
TÜBINGEN
Molecular diagnosis of Friedreich ataxia (FXN gene)
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing
Baden-Württemberg
ULM
Molecular diagnosis of Friedreich ataxia (FXN gene)
Universitätsklinikum Ulm
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing
TIROL
INNSBRUCK
Molecular diagnosis of Friedreich ataxia (FXN gene)
Medizinische Universität Innsbruck
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Cataluña
BARCELONA
Molecular diagnosis of Friedreich ataxia. FXN gene
Laboratorio de Análisis Dr. Echevarne
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Bayern
MÜNCHEN
Molecular diagnosis of Friedreich ataxia (FXN gene)
Medizinisch Genetisches Zentrum München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s)
: NGS sequencing (except WES), PCR based techniques, Whole Exome Sequencing (WES)
Finland
TURKU
Molecular diagnosis of Friedreich ataxia (FXN gene)
Turku University Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
VLAAMS BRABANT
LEUVEN
Molecular diagnosis of Friedreich ataxia (FRDA gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
LIEGE
LIEGE
Molecular diagnosis of Friedreich ataxia (FRDA gene)
CHU de LIEGE - UniLab Lg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Molecular diagnosis of Friedreich ataxia (FRDA gene)
Erasme Hospital - ULB
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Suisse Romande
GENÈVE
Molecular diagnosis of Friedreich ataxia (FRDA gene)
Hôpitaux Universitaires de Genève HUG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Lanarkshire
GLASGOW
Molecular diagnosis of Friedreich Ataxia (Frataxin gene, C282Y and H63D mutations: by allele-specific PCR)
Southern General Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Technical procedure(s)
: PCR based techniques
Sachsen
DRESDEN
Molecular diagnosis of Friedreich ataxia (FXN gene)
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing
South Glamorgan
CARDIFF
Molecular diagnosis of Friedreich Ataxia (FA, FXN gene: Molecular diagnosis through gene expansion analysis)
University Hospital of Wales
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technical procedure(s)
: PCR based techniques
HAINAUT
GOSSELIES
Molecular diagnosis of Friedreich ataxia (FRDA gene)
Institut de Pathologie et de Génétique - Gosselies
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
County Dublin
DUBLIN
Molecular Diagnosis of Friedreich Ataxia (FXN gene)
National Centre for Medical Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing, PCR based techniques
Suisse Romande
LAUSANNE
Molecular diagnosis of Friedreich ataxia (FRDA gene)
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
ILE-DE-FRANCE
PARIS
Molecular genetics diagnosis of Friedreich ataxia (FXN gene)
CHU Paris - 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
Technical procedure(s)
: NGS sequencing (except WES), PCR based techniques
Zuid-Holland
ROTTERDAM
Molecular diagnosis of Friedreich Ataxia (FXN gene)
Erasmus MC, Faculteitsgebouw
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technical procedure(s)
: PCR based techniques
Gelderland
NIJMEGEN
Molecular diagnosis of Friedreich Ataxia (FXN gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Asturias
OVIEDO
Diagnosis of Friedreich ataxia (FXN gene)
Hospital Universitario Central de Asturias
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
Technical procedure(s)
: Sanger sequencing, PCR based techniques
South Yorkshire
SHEFFIELD
Molecular diagnosis of Friedreich Ataxia (FXN gene: analysis of GAA trinucleotide repeat)
Sheffield Children's NHS Foundation Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Schleswig-Holstein
LÜBECK
Molecular diagnosis of Friedreich ataxia (FXN gene)
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing
Tyne & Wear
NEWCASTLE UPON TYNE
Molecular diagnosis of Friedreich Ataxia (FXN gene: Targetted mutation analysis / Testing for known mutations in family members)
Newcastle upon Tyne Hospitals NHS Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Greater London
LONDON
Molecular diagnosis of Friedreich ataxia (FXN gene)
National Hospital for Neurology and Neurosurgery
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Cambridgeshire
CAMBRIDGE
Molecular diagnosis of Friedreich Ataxia (Frataxin gene)
Addenbrooke's Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Mecklenburg-Vorpommern
ROSTOCK
Molecular diagnosis of Friedreich ataxia (FXN gene)
Centogene AG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing
Mecklenburg-Vorpommern
ROSTOCK
Molecular diagnosis of Friedreich ataxia (FXN gene)
Diagenom GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUXELLES
Molecular diagnosis of Friedreich ataxia (FXN gene)
Université Catholique de Louvain - UCL
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Bayern
NEU-ULM
Molecular diagnosis of Friedreich ataxia (FXN gene)
Paxis und Labor Dr. med Karl Mehnert
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing
Suisse Alémanique
ZÜRICH
Molecular diagnosis of Friedreich ataxia (FRDA gene)
Genetica AG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
West Midlands
BIRMINGHAM
Molecular diagnosis of Friedreich ataxia (FXN gene)
Birmingham Women's NHS Foundation Trust
Purpose(s)
: Somatic genetics
Specialty(ies)
: Molecular genetics
Hamburg
HAMBURG
Molecular diagnosis of Friedreich ataxia (FXN gene)
MVZ Fenner & Krasemann
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing
Bayern
MARTINSRIED
Molecular diagnosis of Friedreich ataxia (FXN gene)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing
Baden-Württemberg
KARLSRUHE
Molecular diagnosis of Friedreich ataxia (FXN gene)
Labor PD Dr. Volkmann und Kollegen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing
NORTE
PORTO
Molecular diagnosis of recessive ataxia (FXN, TTPA, APTX, SETX, SACS, CABC1, ATM, MTTP, SYT14 genes)
Instituto de Biologia Molecular e Celular
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Rheinland-Pfalz
INGELHEIM AM RHEIN
Molecular diagnosis of Friedreich ataxia (FXN gene)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing
Bayern
MÜNCHEN
Molecular diagnosis of Friedreich ataxia (FXN gene)
Zweigniederlassung der synlab MVZ Augsburg GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing
Nordrhein-Westfalen
DORTMUND
Molecular diagnosis of Friedreich ataxia (FXN gene: sequencing/MLPA, trinucleotide repeat by PCR or Southern Blot)
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
Technical procedure(s)
: Sanger sequencing, MLPA based techniques
Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of Friedreich ataxia (FXN gene)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technical procedure(s)
: MLPA based techniques
Ontario
TORONTO
Molecular Diagnosis of Friedreich Ataxia (FXN triplet repeat analysis)
North York General Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Baden-Württemberg
TÜBINGEN
Molecular diagnosis of Friedreich ataxia (FXN gene)
CeGaT GmbH
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
Technical procedure(s)
: Sanger sequencing, PCR based techniques
Bayern
MÜNCHEN
Molecular diagnosis of Friedreich ataxia (FXN gene)
Pränatalmedizin München
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s)
: Sanger sequencing, MLPA based techniques
PROVENCE-ALPES-COTE D'AZUR
NICE
Diagnosis of mitochondrial diseases (Panel)
CHU de Nice - Hôpital l'Archet 2
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s)
: NGS sequencing (except WES)
Comunidad Valenciana
PATERNA
Preimplantation genetic diagnosis of Friedreich ataxia (FXN gene)
Sistemas Genómicos S.L.
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics
Merseyside
LIVERPOOL
Molecular diagnosis of Friedreich Ataxia (gene: FXN)
Liverpool Women's NHS Foundation Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Antrim and Newtownabbey
BELFAST
Molecular diagnosis of Friedreich Ataxia by targetted mutation analysis (FXN gene)
Belfast City Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Skane
LUND
Molecular diagnosis of Friedreich ataxia (FXN gene analysis by Southern blot)
Skånes Universitetssjukhus
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Västra Götalandsregionen
GÖTEBORG
Molecular diagnosis of Friedreich ataxia (FXN gene)
Sahlgrenska Universitessjukhuset
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
PAYS DE LA LOIRE
ANGERS
Molecular diagnosis of Friedreich ataxia (FXN gene)
CHU d'Angers
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
Technical procedure(s)
: Sanger sequencing
RHONE-ALPES
BRON
Molecular genetic diagnosis of Friedreich ataxia (FXN gene)
CHU de Lyon HCL - GH Est
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technical procedure(s)
: PCR based techniques
NORD-PAS-DE-CALAIS
LILLE
Molecular diagnosis of Friedreich ataxia (FXN gene)
CHRU de Lille - Centre de Biologie Pathologie Génétique
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
Technical procedure(s)
: Sanger sequencing, PCR based techniques, MLPA based techniques
CENTRE
TOURS
Molecular diagnosis of Friedreich ataxia (FXN gene)
CHRU de Tours - Hôpital Bretonneau
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
Technical procedure(s)
: PCR based techniques
LAZIO
ROMA
Molecular diagnosis of Friedreich ataxia (FXN gene)
CNR - Dipartimento di Medicina
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
LAZIO
ROMA
Molecular diagnosis of Friedreich ataxia (FXN gene)
Laboratorio Genoma
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Aragón
ZARAGOZA
Molecular diagnosis of Friedreich ataxia
Centro de Análisis Genéticos
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
SARDEGNA
CAGLIARI
Molecular diagnosis of Friedreich ataxia (FXN gene)
Ospedale Regionale per le Microcitemie
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Bayern
REGENSBURG
Molecular diagnosis of Friedreich ataxia
Gemeinschaftspraxis Dr. Susanne Ebner und Dr. Susanne Markus
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing
Andalucía
SEVILLA
Molecular diagnosis of Friedreich ataxia (FXN gene / (GAA)n)
Hospital Universitario Virgen del Rocío
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Cataluña
BARCELONA
Diagnosis of Friedreich ataxia (FXN gene)
Centro de Diagnóstico Biomédico - CDB
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technical procedure(s)
: PCR based techniques
POITOU-CHARENTES
POITIERS
Molecular diagnosis of Friedreich ataxia (FXN gene)
CHU de Poitiers
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technical procedure(s)
: PCR based techniques
PIEMONTE
TORINO
Molecular diagnosis of Friedreich ataxia (FXN gene)
A.O. Città della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Cataluña
ESPLUGUES DE LLOBREGAT
Molecular diagnosis of Friedreich ataxia (FXN gene)
Hospital Universitari Sant Joan de Déu
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Tartu
TARTU
Molecular diagnosis of Friedreich ataxia (FXN gene)
Tartu University Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Hovedstaden
COPENHAGEN
Molecular diagnosis of Friedreich ataxia (FXN gene: GAA repeat estimation and complete sequencing)
Rigshospitalet
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Madrid
MADRID
Diagnosis of Friedreich ataxia (FXN gene)
Fundación Jiménez Díaz
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing, PCR based techniques
Jylland
AARHUS
Molecular diagnosis of Friedreich ataxia
Aarhus Universitetshospital - Skejby
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technical procedure(s)
: Sanger sequencing
ATTIKI
ATHENS
Molecular diagnosis of Friedreich ataxia (FRDA gene)
Diagnostic Genetic Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
VENETO
COSTOZZA DI LONGARE
Molecular diagnosis of Friedreich ataxia (FXN gene)
B.I.R.D. Foundation
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Østlandet
OSLO
Molecular diagnosis of Friedreich ataxia (FRDA gene)
Oslo University Hospital, Ullevaal
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Vestlandet
BERGEN
Molecular diagnosis of Friedreich ataxia (FRDA gene)
Haukeland University Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Warszawa
WARSZAWA
Molecular diagnosis of Friedreich ataxia (FXN gene: mutation analysis)
Instytut Matki i Dziecka
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
EMILIA ROMAGNA
FERRARA
Molecular diagnosis of Friedreich ataxia (X25 gene)
A.O.U. di Ferrara - Polo Chimico-Bio-Medico
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Dél-Dunántúl
PECS
Molecular diagnosis of Friedreich ataxia (FXN gene)
Clinical Center - University of Pécs
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Andalucía
MÁLAGA
Molecular diagnosis of Friedreich ataxia (GAA expansion FXN gene)
Genetaq
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technical procedure(s)
: PCR based techniques
Comunidad Valenciana
PATERNA
Molecular diagnosis of Friedreich ataxia (FXN gene)
IMEGEN - Instituto de Medicina Genómica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Poznan
POZNAN
Molecular diagnosis of Friedreich ataxia (FXN gene)
Centrum Genetyki Medycznej GENESIS
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Suisse Alémanique
SCHLIEREN
Molecular diagnosis of Friedrich ataxia: repeat expansion of FXN gene
Universität Zürich
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technical procedure(s)
: PCR based techniques
Andalucía
ARMILLA
Molecular diagnosis of Friedreich ataxia (entire coding sequence of FRDA gene)
Lorgen G.P.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Comunidad Valenciana
PATERNA
Molecular diagnosis of Friedreich ataxia (FXN gene)
Sistemas Genómicos S.L.
Purpose(s)
: Somatic genetics
Specialty(ies)
: Molecular genetics
LAZIO
ROMA
Molecular diagnosis of Friedreich ataxia (FXN gene)
IRCCS Ospedale Pediatrico Bambino Gesù
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Galicia
SANTIAGO DE COMPOSTELA
Molecular diagnosis of Friedreich ataxia (FXN gene)
CHUS - Complejo Hospitalario Universitario de Santiago
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Québec
MONTRÉAL
Molecular diagnosis of Friedreich ataxia (FXN gene, analysis by PCR & Southern blot)
Centre hospitalier universitaire Sainte-Justine
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Technical procedure(s)
: PCR based techniques
NORTE
PORTO
Molecular diagnosis of Friedreich Ataxia (FXN gene: analysis of GAA trinucleotide repeat by msTP-PCR)
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Technical procedure(s)
: PCR based techniques
Cataluña
BARCELONA
Preimplantation genetic diagnosis of Friedreich ataxia (FXN gene)
CME Barcelona
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics
Sachsen
DRESDEN
Molecular diagnosis of Friedreich ataxia (FXN gene)
Gemeinschaftspraxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing
WIEN
WIEN
Molecular diagnosis of Friedreich ataxia (FXN gene)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
WIEN
WIEN
Molecular diagnosis of Friedreich ataxia (FXN gene)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
La Rioja
LOGROÑO
Molecular diagnosis of Friedreich ataxia (FRDA gene)
CIBIR - Centro de Investigación Biomédica de La Rioja
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Cataluña
TERRASSA
Molecular diagnosis of Friedreich ataxia (FXN (GAA)n expansion)
Consorci Sanitari de Terrassa
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technical procedure(s)
: PCR based techniques
Comunidad Valenciana
SANT JOAN D'ALACANT
Molecular diagnosis of Friedreich ataxia (FXN gene / triplet expansion)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technical procedure(s)
: PCR based techniques
LANGUEDOC-ROUSSILLON
MONTPELLIER
Molecular diagnosis of Friedreich ataxia (FXN gene)
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, Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing, PCR based techniques
Alberta
CALGARY
Molecular Diagnosis of Friedreich Ataxia (FXN triplet repeat analysis)
Alberta Children's Hospital
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technical procedure(s)
: PCR based techniques
Colombie-Britannique
VANCOUVER
Molecular Diagnosis of Friedreich Ataxia (FXN triplet repeat analysis)
BC Women's Hospital and Health Centre
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
VENETO
PADOVA
Postnatal molecular diagnosis of Friedreich ataxia (sequence analysis of the entire coding region of FXN gene)
Azienda Ospedaliera di Padova
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: NGS sequencing (except WES), Sanger sequencing
Comunidad Valenciana
ELCHE
Diagnosis of Friedreich ataxia (FXN gene)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s)
: NGS sequencing (except WES), MLPA based techniques
LANGUEDOC-ROUSSILLON
MONTPELLIER
Diagnosis of hereditary ataxia (Panel)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s)
: NGS sequencing (except WES)
NORD-PAS-DE-CALAIS
LILLE
Diagnosis of recessive ataxia (Panel)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: NGS sequencing (except WES)
País Vasco
SAN SEBASTIÁN
Diagnosis of Friedreich ataxia (FXN gene)
DNA Data
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technical procedure(s)
: PCR based techniques
Baden-Württemberg
STUTTGART
Molecular diagnosis of Friedreich ataxia (FXN gene)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s)
: Sanger sequencing, PCR based techniques, MLPA based techniques
País Vasco
SAN SEBASTIÁN
Diagnosis of hypertrophic cardiomyopathy (panel)
DNA Data
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: NGS sequencing (except WES)
País Vasco
SAN SEBASTIÁN
Diagnosis of cardiomyopathies (panel)
DNA Data
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: NGS sequencing (except WES)
LOMBARDIA
MILANO
Molecular diagnosis of Friedreich ataxia (FXN gene)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
CAMPANIA
NAPOLI
Molecular diagnosis of Friedreich ataxia (FXN gene)
Azienda Ospedaliera Universitaria "Federico II"
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
PUGLIA
SAN GIOVANNI ROTONDO
Molecular diagnosis of Friedreich ataxia (FRDA gene)
IRCCS Ospedale Casa Sollievo della Sofferenza - Polamb. Giovanni Paolo II
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
MOLISE
POZZILLI
Molecular diagnosis of Friedreich ataxia (FXN gene)
Istituto Neurologico Mediterraneo - IRCCS Neuromed
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Mecklenburg-Vorpommern
ROSTOCK
Molecular diagnosis of Friedreich ataxia (FXN gene)
Albrecht-Kossel-Institute for Neuroregeneration (AKos)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing
CALABRIA
MANGONE
Molecular diagnosis of Friedreich ataxia (FXN gene)
CNR
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
TOSCANA
FIRENZE
Molecular diagnosis of Friedreich ataxia (X25 gene)
Azienda Ospedaliero Universitaria Careggi - NEUROFARBA
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
SICILIA
TROINA
Molecular diagnosis of Friedreich ataxia (FXN gene)
IRCCS OASI Maria Santissima
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Cyprus
NICOSIA
Molecular diagnosis of Friedreich ataxia (FRDA gene)
The Cyprus Institute of Neurology and Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Andalucía
GRANADA
Molecular Diagnosis of Friedreich Ataxia
Hospital Universitario Virgen de las Nieves
Purpose(s)
: Post-natal diagnosis
ATTIKI
ATHENS
Molecular diagnosis of Friedreich ataxia (FXN gene)
University of Athens - Medical school
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Lothian
EDINBURGH
Molecular diagnosis of Friedreich Ataxia (FXN gene)
Western General Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Capital City Prague
PRAHA
Prenatal and postnatal molecular diagnosis of Friedreich ataxia (FRDA gene)
Motol university hospital - 2nd Medical School Charles University Prague
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Landstinget i Uppsala län
UPPSALA
Molecular diagnosis of Friedreich ataxia (FXN gene)
Akademiska Sjukhuset
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
SLOVENIA
LJUBLJANA
Molecular diagnosis of Friedreich ataxia (FXN gene)
University Medical Center Ljubljana
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Bayern
MÜNCHEN
Molecular diagnosis of Friedreich ataxia (FXN gene)
LMU Klinikum der Universität München - Campus Großhadern
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing
CROATIA
ZAGREB
Molecular diagnosis of Friedreich Ataxia
Zagreb Clinical Hospital Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
ISRAEL
JERUSALEM
Molecular diagnosis of Friedreich Ataxia (FRATAXIN, Mutation analysis, PGD)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
ISRAEL
HAIFA
Molecular diagnosis of Friedreich Ataxia (FXN, Mutation analysis)
The Bnai Zion Medical Center, Technion-Rappaport Faculty of Medicine
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Bratislavsky kraj
BRATISLAVA
Molecular diagnosis of Friedreich ataxia (FXN gene)
Medgene s.r.o.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Comunidad Valenciana
VALENCIA
Molecular diagnosis of Friedreich ataxia (FXN gene)
Hospital Universitario y Politécnico La Fe
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Baden-Württemberg
TÜBINGEN
Molecular diagnosis of Friedreich ataxia (FXN gene)
Hertie-Institut für klinische Hirnforschung (HIH)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing
Cataluña
BADALONA
Molecular diagnosis of Friedreich ataxia. FXN gene
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
TOSCANA
PISA
Molecular diagnosis of Friedreich ataxia (FXN gene)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Madrid
SAN SEBASTIÁN DE LOS REYES
Molecular diagnosis of Friedreich ataxia (entire coding sequence of FXN gene / analysis of GAA triplet expansion)
Laboratorio de Genética Clínica, S.L.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s)
: PCR based techniques
SICILIA
TROINA
Molecular diagnosis of Friedreich ataxia (FXN gene)
IRCCS OASI Maria Santissima
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Bratislavsky kraj
BRATISLAVA
Molecular diagnosis of Friedreich ataxia (FXN gene: analysis of GAA trinucleotide repeat in intron 1 by long-ramge PCR, TP-PCR)
University Hospital Bratislava - Stare mesto
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Technical procedure(s)
: PCR based techniques
Comunidad Valenciana
VALENCIA
Diagnostic of Friedreich ataxia (FXN gene)
Centro de Investigación Príncipe Felipe (CIPF)
Purpose(s)
: Post-natal diagnosis, Somatic genetics
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technical procedure(s)
: Sanger sequencing, PCR based techniques
MOLISE
POZZILLI
