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26 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • 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 in case of Unexplained Metabolic 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 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 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
    • Heterozygote screening by NGS Inherited Disease Panel (Kingsmore)
    • Pränatalmedizin München
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • 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
    • Biochemical diagnosis of Neurotransmission Anomalies (Analyte: Free Catecholamines, Metanephrines, MHPG and Phenolic Acids)
    • AMC - Academisch Medisch Centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Biochemical diagnosis of Biogenic Amine Metabolism Disorders (Analyte: Pterins)
    • AMC - Academisch Medisch Centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • 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
    • 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
    • Biochemical diagnosis of biogenic amine metabolism disorder
    • Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • VENETO
    • PADOVA
    • 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) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • 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 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
    • Biochemical diagnosis of pterin metabolism disorders (dosage of neurotransmitters (MDGs MHPG , 5-HTP , 5-HIAA , HVA) and pterins (neopterin , biopterin and sepiapterin) in CSF ; DHPR enzyme activity in erythrocytes ; pterin analysis (neopterin and biopterin) in urine; assay of plasma phenylalanine)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • 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 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 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
    • Biochemical diagnosis of inborn errors of metabolism (including Austrian newborn screening program for inborn errors of metabolism)
    • Allgemeines Krankenhaus der Stadt Wien
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • AUSTRIA
    • WIEN
    • WIEN