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Caption : Accreditation =Accreditation
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    • GERMANY
    • Nordrhein-Westfalen
    • BOCHUM
    • Accreditation
    • Molecular diagnosis of ataxia with oculomotor apraxia 1
    • Ruhr-Universität Bochum
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of mitochondriopathies (mtDNA/mtRNA)
    • Medizinisch Genetisches Zentrum München
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of ataxia with oculomotor apraxia 1
    • Medizinisch Genetisches Zentrum München
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of Coenzyme Q 10 deficiency (ADCK3, APTX, COQ2, COQ9, PDSS1, PDSS2 genes)
    • Medizinisch Genetisches Zentrum München
    • More information
    • GERMANY
    • Schleswig-Holstein
    • LÜBECK
    • Accreditation
    • Molecular diagnosis of ataxia with oculomotor apraxia 1 and 2 (APTX and SETX genes)
    • Universitätsklinikum Schleswig-Holstein - Campus Lübeck
    • More information
    • UNITED KINGDOM
    • Greater Manchester
    • MANCHESTER
    • Accreditation
    • Molecular diagnosis of Retinal Degeneration (Multigene panel; 105 genes)
    • St Mary's Hospital
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Accreditation
    • Molecular diagnosis of recessive ataxia: Friedreich, Friedreich-like ataxia with selective vitamin E deficiency, oculomotor apraxia, Charlevoix-Saguenay, coenzyme Q10 deficiency, telangectasia, abetalipoproteinemia e spinocerebellar SCAR11(FRDA, AOA1, AOA2, SACS, AT, ABL, SCAR11), FXN, TTPA, APTX, SETX, SACS, CABC1, ATM, MTTP, SYT14 genes
    • Instituto de Biologia Molecular e Celular
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Molecular diagnosis of Mitochondrial disorders
    • Sheffield Children's NHS Foundation Trust
    • More information
    • BELGIUM
    • HAINAUT
    • GOSSELIES
    • Accreditation
    • Molecular diagnosis of ataxia with oculomotor apraxia 1 and 2 (APTX and SETX genes, by MLPA and seq)
    • Institut de Pathologie et de Génétique - Gosselies
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Accreditation
    • Molecular diagnosis of Mitochondrial DNA Disease (Multigene Panel; 37 genes)
    • National Hospital for Neurology and Neurosurgery
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Accreditation
    • Molecular diagnosis of Ataxia oculomotor apraxia (APTX gene)
    • Erasmus MC, Faculteitsgebouw
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of Ataxia and Oculomotor Apraxia type 1 and 2 (APTX and SETX gene)
    • Radboudumc - Radboud universitair medisch centrum
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis in case of Unexplained Metabolic Disorders (exome sequencing)
    • Radboudumc - Radboud universitair medisch centrum
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Molecular diagnosis of Metabolic Neurodegenerative Disorders (multigene panel; 60 genes)
    • AMC - Academisch Medisch Centrum
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of ataxia with oculomotor apraxia 1 and 2 (APTX and SETX genes)
    • Praxis für Humangenetik Freiburg
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of Coenzyme Q 10 deficiency (COQ9, PDSS1, PDSS2 genes)
    • Praxis für Humangenetik Freiburg
    • More information
    • UNITED KINGDOM
    • Oxfordshire
    • OXFORD
    • Accreditation
    • Molecular diagnosis of Mitochondrial DNA Disease (Multigene Panel; 37 genes)
    • The Churchill Hospital
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of ataxia with oculomotor apraxia 1 and 2 (APTX, PIK3R5 and SETX genes)
    • Centogene AG
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of Coenzyme Q 10 deficiency (ADCK3, APTX, COQ2, COQ9, PDSS1, PDSS2 genes)
    • Centogene AG
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of ataxia with oculomotor apraxia 1 and 2 (APTX and SETX genes)
    • MVZ Fenner & Krasemann
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • BERN
    • Accreditation
    • Molecular diagnosis of mitochondrial diseases (Mitochondrial genom)
    • Inselspital
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of mitochondriopathies (mtDNA: sequencing)
    • CeGaT GmbH
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of ataxia with oculomotor apraxia 1 and 2 (APTX and SETX genes: sequencing)
    • CeGaT GmbH
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of Coenzyme Q 10 deficiency (COQ9, PDSS1, PDSS2 genes)
    • CeGaT GmbH
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Biochemical diagnosis of Mitochondrial Diseases (Analyte: Lactic Acid, Pyruvic Acid and Ubiquinon)
    • AMC - Academisch Medisch Centrum
    • More information
    • FRANCE
    • RHONE-ALPES
    • GRENOBLE
    • Biochemical and molecular diagnosis of mitochondrial diseases
    • CHU de Grenoble site Nord - Institut de biologie et de pathologie
    • More information
    • ITALY
    • PIEMONTE
    • TORINO
    • Molecular diagnosis of ataxia - oculomotor apraxia type 1 (APTX gene)
    • Azienda Ospedaliero-Universitaria San Giovanni Battista di Torino
    • More information
    • ITALY
    • VENETO
    • COSTOZZA DI LONGARE
    • Molecular diagnosis of ataxia-oculomotor apraxia type 1and 2 (APTX and SETX genes)
    • B.I.R.D. Foundation
    • More information
    • SPAIN
    • Galicia
    • SANTIAGO DE COMPOSTELA
    • Molecular diagnosis of ataxia - oculomotor apraxia type 1 (APTX gene)
    • CHUS - Complejo Hospitalario Universitario de Santiago
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Molecular diagnosis of ataxia - oculomotor apraxia type 1 (APTX gene)
    • IDIBELL - Instituto de Investigación Biomédica de Bellvitge
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of mitochondrial diseases (mitochondrial genome)
    • Medizinische Universität Wien
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of ataxia - oculomotor apraxia type 1 (APTX gene)
    • Sistemas Genómicos S.L.
    • More information
    • ESTONIA
    • Tartu
    • TARTU
    • Diagnosis of mitochondrial disorders : quantitative organic acid analysis (GC/MS)
    • Tartu University Hospital
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • Molecular diagnosis of ataxia with oculomotor apraxia 1 and 2 (APTX and SETX genes)
    • Praxis Dres. Gencik
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of Ataxia - oculomotor apraxia, types 1 and 2 (APTX and SETX genes)
    • Praxis für Humangenetik
    • More information
    • CYPRUS
    • Cyprus
    • NICOSIA
    • Molecular diagnosis of ataxia-oculomotor apraxia (APTX gene)
    • The Cyprus Institute of Neurology and Genetics
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of Ataxia - oculomotor apraxia type 1 and type 2 (APTX and SETX genes: deletions/duplications analysis by MLPA for APTX gene and sequencing of the entire coding region for SETX gene)
    • CGC Genetics / Centro de Genética Clínica
    • More information
    • SPAIN
    • Comunidad Valenciana
    • SANT JOAN D'ALACANT
    • Molecular diagnosis of ataxia - oculomotor apraxia type 1 (APTX gene / sequencing)
    • Centro Inmunológico de Alicante (CIALAB)
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Molecular screening for Mitochondrial Diseases (mtDNA deletion screen in blood, muscle & liver tissue by southern blot)
    • Universitair Ziekenhuis Brussel - UZBrussel
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Molecular diagnosis of Mitochondrial Diseases (by dHPLC analysis, please contact the lab)
    • Universitair Ziekenhuis Brussel - UZBrussel
    • More information
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • Molecular diagnosis of mitochondrial diseases (mtDNA/POLG/Twinkle)
    • Karolinska University Hospital - Solna
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Molecular diagnosis of ataxia with oculomotor apraxia 1 and 2 (APTX and SETX genes)
    • Diagenom GmbH
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of ataxia - oculomotor apraxia type 1 (APTX gene)
    • Genetaq
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of ataxia - oculomotor apraxia type 1 (APTX gene - complete sequuencing)
    • IMEGEN - Instituto de Medicina Genómica
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of ataxia - oculomotor apraxia type 1 (APTX gene)
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of coenzyme Q10 deficiency (COQ2 gene)
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Molecular diagnosis of ataxia with oculomotor apraxia 1 and 2 (APTX and SETX genes: sequencing, MLPA)
    • Gemeinschaftspraxis für Humangenetik
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Dosage of CoQ10 in plasma and tissues
    • CHU Paris - Hôpital Robert Debré
    • More information
    • ITALY
    • LIGURIA
    • GENOVA
    • Biochemical diagnosis of beta-oxidation deficiency (metabolite analysis)
    • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Molecular and biochemical diagnosis of metabolic encephalomyopathies (ETFDH, ETF, CPT2, MCAD, VLCAD genes)
    • Fondazione IRCCS Istituto Neurologico "Carlo Besta"
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Molecular diagnosis of ataxia- oculomotor apraxia, type 1 (APTX gene)
    • Fondazione IRCCS Istituto Neurologico "Carlo Besta"
    • More information
    • ITALY
    • TOSCANA
    • PISA
    • Biochemical diagnosis of mitochondrial diseases
    • Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
    • More information
    • ITALY
    • TOSCANA
    • SIENA
    • Molecular diagnosis of ataxia-oculomotor apraxia, type 1 (APTX gene)
    • Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of Coenzyme Q 10 deficiency
    • Hospital Clínic de Barcelona
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Molecular diagnosis of ataxia with oculomotor apraxia 1 and 2 (APTX and SETX genes)
    • Universitätsmedizin Rostock
    • More information
    • ITALY
    • CALABRIA
    • MANGONE
    • Molecular diagnosis of ataxia-oculomotor apraxia (APTX gene)
    • CNR
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BONN
    • Histological diagnosis of mitochondrial diseases
    • Universitätsklinikum Bonn
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Biochemical diagnosis of respiratory chain defects and mitochondrial ATP synthesis
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • More information
    • ITALY
    • SARDEGNA
    • CAGLIARI
    • Biochemical diagnosis of respiratory chain multiple deficiences
    • Ospedale Regionale per le Microcitemie
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Biochemical and molecular diagnosis of mitochondrial diseases
    • CGMJM - Centro de Genética Médica Jacinto Magalhães
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of ataxia-oculomotor apraxia (SETX e APTX genes)
    • A.O. S. Andrea
    • More information
    • SPAIN
    • Aragón
    • ZARAGOZA
    • Molecular diagnosis of Mitocondrial Diseases, mitochondrial DNA
    • Universidad de Zaragoza. Facultad de Veterinaria
    • More information
    • ITALY
    • FRIULI VENEZIA GIULIA
    • TRIESTE
    • Molecular diagnosis of mitochondrial diseases, clinically undefinite
    • IRCCS Burlo Garofolo - Istituto per l'Infanzia
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • LUDWIGSHAFEN
    • Biochemical diagnosis of Coenzyme Q10 deficiency
    • Klinikum der Stadt Ludwigshafen gGmbH
    • More information
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE
    • Molecular diagnosis of Mitochondrial DNA Disease (Multigene Panel; 37 genes)
    • Wellcome Trust Centre for Mitochondrial Research
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Biochemical diagnosis of mitochondriopathies (lactate, pyruvate/ free fatty acids/ keton bodies/ amino acids in plasma/ organic acids/ CSF lactate/ amino acids in CSF
    • Universitätsklinikum Heidelberg
    • More information
    • SPAIN
    • Cataluña
    • ESPLUGUES DE LLOBREGAT
    • Biochemical and molecular diagnosis of coenzyme Q 10 deficiency (ADCK3, COQ2, COQ9, PDSS1 and PDSS2 genes)
    • Hospital Universitari Sant Joan de Déu
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of OXPHOS diseases
    • Fundació Institut de Recerca Hospital Universitari Vall d'Hebron
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Molecular diagnosis of ataxia with oculomotor apraxia 1 and 2 (APTX and SETX genes)
    • Universitätsklinikum Tübingen
    • More information
    • GERMANY
    • Niedersachsen
    • HANNOVER
    • Biochemical diagnosis of mitochondrial respiratory chain deficiency (enzyme assay complex I-V)
    • Medizinische Hochschule Hannover
    • More information
    • SPAIN
    • Cataluña
    • BADALONA
    • Molecular diagnosis of ataxia - oculomotor apraxia type 1. APTX gene
    • Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of ataxia - oculomotor apraxia type 1 (entire coding sequence of APTX gene)
    • Laboratorio de Genética Clínica, S.L.
    • More information
    • SPAIN
    • Madrid
    • MADRID
    • Biochemical diagnosis of mitochondrial oxidative phosphorylation disorder (enzymatic studies: Citrate synthase, NADH Decylubiquinone oxidoreductase, Succinate-Decylubiquinone dehydrogenase, DBH2 Cytochrome C Oxidoreductase, Cytochrome C Oxidase, NADH-Cytochrome C Reductase, Succinate-Cytochrome C Reductase)
    • Hospital Universitario 12 de Octubre
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Biochemical diagnosis of inborn errors of metabolism (including Austrian newborn screening program for inborn errors of metabolism)
    • Medizinische Universität Wien
    • More information