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65 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of dopa-responsive dystonia. GCH1 - GTP cyclohydrolase 1 gene
    • Laboratorio de Análisis Dr. Echevarne
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Accreditation
    • Molecular diagnosis of dopa-responsive dystonia (GCH1, TH genes)
    • Bioscientia Institut für Medizinische Diagnostik GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • Accreditation
    • Molecular diagnosis of Autosomal Dominant Dopa Responsive Dystonia (GCH1 gene)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of Autosomal Recessive Dopa Responsive Dystonia due to Tyrosine Hydroxylase Deficiency (TH gene)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of Autosomal dominant dopa-responsive dystonia (GCH1 gene)
    • National Hospital for Neurology and Neurosurgery
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Accreditation
    • Molecular diagnosis of dopa-responsive dystonia (GCH1, TH genes)
    • Centogene AG
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of dystonias (ATP1A3, GCH1, MR1(PNKD), PRKRA, SGCE, TH, THAP1, TOR1A genes)
    • Diagenom GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of dopa-responsive dystonia (GCH1 gene)
    • Heinrich-Heine-Universität Düsseldorf
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • DÜSSELDORF
    • Accreditation
    • Molecular diagnosis of dopa-responsive dystonia, DYT5 (GCH1 gene) by sequencing of entire coding region and delection/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
    • Technical procedure(s) : MLPA based techniques
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Accreditation
    • Molecular diagnosis of Autosomal Dominant Dopa-responsive Dystonia (GCH1 gene: DNA sequencing of entire coding region & MLPA analysis)
    • Sheffield Children's NHS Foundation Trust
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : MLPA based techniques
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Molecular diagnosis of Autosomal Recessive Dopa-responsive Dystonia (TH gene: DNA sequencing of entire coding region)
    • Sheffield Children's NHS Foundation Trust
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Molecular diagnosis of dopa-responsive dystonia (GCH1, TH genes: sequencing)
    • CeGaT GmbH
    • 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
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of Tyrosine Hydroxylase Deficiency (TH gene)
    • AMC - Academisch Medisch Centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Molecular diagnosis of dopa-reponsive dystonia (GCH1 gene)
    • Hôpitaux Universitaires de Genève HUG
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SWITZERLAND
    • Suisse Romande
    • GENÈVE
    • Accreditation
    • Molecular diagnosis of sepiapterin reductase deficiency (SPR gene)
    • CeGaT GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of dopa-responsive dystonia (GCH1, SPR, TH genes)
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of Autosomal Recessive Dopa Responsive Dystonia due to Sepiapterin Reductase Deficiency (SPR gene)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis in case of Unexplained Movement Disorders (exome sequencing)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of autosomal recessive dopa-responsive dystonia (TH gene) by sequencing of entire coding region and delection/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
    • Technical procedure(s) : MLPA based techniques
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Accreditation
    • Molecular diagnosis of Metabolic Neurodegenerative Disorders (multigene panel; 60 genes)
    • AMC - Academisch Medisch Centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Biochemical and molecular diagnosis of dopa-reponsive dystonia (GTPCH enzyme activity in fibroblasts, GCH1 gene analysis, pterin metabolites (neopterin and biopterin) in urine, plasma and CSF)
    • Kinderspital Zürich - Eleonorenstiftung
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • ZÜRICH
    • Accreditation
    • Biochemical and molecular diagnosis of Segawa syndrome, autosomal recessive (TH gene analysis, monoamine neurotransmitter metabolites in CSF)
    • Kinderspital Zürich - Eleonorenstiftung
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • ZÜRICH
    • Accreditation
    • Biochemical and molecular diagnosis of autosomal recessive dopa responsive dystonia due to sepiapterin reductase deficiency (SR enzyme activity in fibroblasts, SPR gene analysis, pterin metabolites including sepiapterin in urine, plasma and CSF)
    • Kinderspital Zürich - Eleonorenstiftung
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • ZÜRICH
    • Accreditation
    • Molecular diagnosis of autosomal recessive dopa-responsive dystonia (TH gene)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Accreditation
    • Molecular diagnosis of autosomal dominant dopa-responsive dystonia (GCH1 gene)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Accreditation
    • Molecular diagnosis of dopa-responsive dystonia (GCH1, TH genes)
    • Medizinisch Genetisches Zentrum München
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of dopa-responsive dystonia (GCH1, SPR, TH genes)
    • Institut für Humangenetik am Universitätsklinikum Heidelberg
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Accreditation
    • Molecular and biochemical diagnosis of autosomal recessive dopa-responsive dystonia (TH gene; Analyte: tyrosine hydroxylase)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Molecular diagnosis of autosomal dominant dopa-responsive dystonia (GCH1 gene)
    • CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
    • Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Biochemical and molecular diagnosis of neurotransmitter biosynthesis deficiency (TH gene)
    • Policlinico Umberto I
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Biochemical diagnosis of tyrosine hydroxylase deficiency
    • Ospedale Regionale per le Microcitemie
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • SARDEGNA
    • CAGLIARI
    • Molecular diagnosis of dopa-responsive dystonia (GCH1, TH genes)
    • Praxis Dres. Gencik
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • Molecular diagnosis of dopa-responsive dystonia (GCH1 and TH gene)
    • Praxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Prenatal and postnatal molecular diagnosis of doparesponsive dystonia (TH, GCH1 and SPR genes: mutation screening ; carrier screening)
    • Kennedy Center
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • More information
    • DENMARK
    • Sjælland
    • GLOSTRUP
    • Molecular diagnosis of dopa-responsive dystonia (GCH1 gene)
    • CHUS - Complejo Hospitalario Universitario de Santiago
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Galicia
    • SANTIAGO DE COMPOSTELA
    • Biochemical and molecular diagnosis of the tetrahydropterin metabolism defects (PTS, QDPR, SPR, GCH1 genes)
    • Universidad Autónoma de Madrid. Facultad de Ciencias
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SPAIN
    • Madrid
    • CANTOBLANCO
    • Molecular and biochemical diagnosis of dopa-responsive dystonia autosomal recessive (TH gene)
    • Universidad Autónoma de Madrid. Facultad de Ciencias
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SPAIN
    • Madrid
    • CANTOBLANCO
    • Molecular diagnosis of dopa-responsive dystonia (GCH1 gene: sequencing, MLPA)
    • bio.logis Zentrum für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Hessen
    • FRANKFURT AM MAIN
    • Molecular diagnosis of dystonia, dopa-responsive, autosomal recessive. TH gene.
    • Genetaq
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of Segawa syndrome (GCH1 gene)
    • Universitair Ziekenhuis Brussel - UZBrussel
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Molecular diagnosis of autosomal recessive dopa-responsive dystonia (TH 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, Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of motor and cognitive disorder due to sepiapterin reductase deficiency (SPR 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) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of dopa-responsive dystonia (GCH1 gene)
    • Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Molecular diagnosis of autosomal dominant dopa-responsive dystonia (GCH1 gene / complete sequencing, MLPA)
    • IMEGEN - Instituto de Medicina Genómica
    • 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
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of dopa-responsive dystonia (GCH1 gene)
    • Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • TOSCANA
    • PISA
    • Molecular diagnosis of autosomal recessive dopa-responsive dystonia (TH gene / entire coding sequence)
    • IMEGEN - Instituto de Medicina Genómica
    • 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
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of dopa-responsive dystonia (GCH1, SPR, TH genes: sequencing, MLPA)
    • Gemeinschaftspraxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Molecular diagnosis of autosomal dominant dopa-responsive dystonia (GCH1 gene: sequencing)
    • Genetaq
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of autosomal dominant dopa-responsive dystonia (GCH1 gene / sequencing)
    • Centro Inmunológico de Alicante (CIALAB)
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • SANT JOAN D'ALACANT
    • Molecular diagnosis of dopa-responsive dystonia (TH and SPR genes)
    • CHU de Reims - Hôpital Maison Blanche
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • FRANCE
    • CHAMPAGNE-ARDENNE
    • REIMS
    • Molecular diagnosis of dopa-responsive dystonia (GCH1 gene)
    • Institut für Humangenetik am Universitätsklinikum Freiburg
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Molecular diagnosis of autosomal recessive dopa-responsive dystonia (TH gene: sequencing of entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of dopa-responsive dystonia due to sepiapterin reductase deficiency (SPR gene)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of dopa-responsive dystonia (GCH1 and TH genes)
    • CNR
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • CALABRIA
    • MANGONE
    • Molecular diagnosis of dopa-responsive dystonias (GCH1, TH, SPR genes)
    • Hertie-Institut für klinische Hirnforschung (HIH)
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Biochemical diagnosis of tyrosine hydroxylase deficiency
    • CGMJM - Centro de Genética Médica Jacinto Magalhães
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of dopa-responsive dystonia
    • Albrecht-Kossel-Institute for Neuroregeneration (AKos)
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Molecular diagnosis of dopa-responsive dystonia (GCH1 gene)
    • Motol university hospital - 2nd Medical School Charles University Prague
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • CZECH REPUBLIC
    • Capital City Prague
    • PRAHA
    • Molecular diagnosis of dopa-responsive dystonia (GCH1 gene)
    • LMU Klinikum der Universität München - Campus Großhadern
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Biochemical and molecular diagnosis of autosomal recessive dopa-responsive dystonia (TH gene)
    • Hospital Universitari Sant Joan de Déu
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SPAIN
    • Cataluña
    • ESPLUGUES DE LLOBREGAT
    • Biochemical diagnosis of motor and cognitive disorder due to sepiapterin reductase deficiency.
    • Hospital Universitari Sant Joan de Déu
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SPAIN
    • Cataluña
    • ESPLUGUES DE LLOBREGAT
    • Biochemical diagnosis of dystonia, dopa-responsive, autosomal recessive
    • Hospital Universitari Sant Joan de Déu
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SPAIN
    • Cataluña
    • ESPLUGUES DE LLOBREGAT
    • Molecular diagnosis of autosomal dominant dopa-responsive dystonia (entire coding sequence of GCH1 gene)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Biochemical diagnosis of Segawa syndrome
    • CGMJM - Centro de Genética Médica Jacinto Magalhães
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Postnatal molecular diagnosis of dystonia (mutation scanning of the entire coding region of TOR1A, THAP1, GCH1 and SGCE genes)
    • Ospedale Molinette
    • 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
    • More information
    • ITALY
    • PIEMONTE
    • TORINO