Skip to
  1. Homepage
  2. Diagnostic tests
  3. Search
Simple search

Simple search

*
(*) mandatory field




 

Other search option(s)

56 matching term(s)

Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • DENMARK
    • Sjælland
    • GLOSTRUP
    • Accreditation
    • Prenatal and postnatal molecular diagnosis of hyperphenylalaninemia (QPDR, GCH1 and PTS genes: mutation screening ; carrier screening)
    • Kennedy Center
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Molecular diagnisis of Hyperphenylalaninemia (BH4-Deficient, B) (GCH1 gene)
    • Sheffield Children's NHS Foundation Trust
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of dehydratase deficiency (PCBD1 gene: sequencing/MLPA)
    • GenteQ GmbH
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis in case of Unexplained Metabolic Disorders (exome sequencing)
    • Radboudumc - Radboud universitair medisch centrum
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Accreditation
    • Molecular diagnosis of 6-Pyruvoyl-tetrahydropterin Synthase Deficiency (PTS gene)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • 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 dehydratase deficiency (PCBD1 gene)
    • Praxis für Humangenetik Freiburg
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of Dihydropteridine reductase deficiency (QDPR gene)
    • Praxis für Humangenetik Freiburg
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • ZÜRICH
    • Accreditation
    • Biochemical and molecular diagnosis of 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS gene)
    • Universitäts-Kinderspital
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • ZÜRICH
    • Accreditation
    • Biochemical and molecular diagnosis of dihydropterine reductase deficiency (QDPR gene)
    • Universitäts-Kinderspital
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • ZÜRICH
    • Accreditation
    • Biochemical and molecular diagnosis of dehydratase deficiency (PCBD1 gene)
    • Universitäts-Kinderspital
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • ZÜRICH
    • Accreditation
    • Biochemical and molecular diagnosis of GTP cyclohydrolase I deficiency (GCH1 gene)
    • Universitäts-Kinderspital
    • More information
    • BELGIUM
    • ANTWERPEN
    • ANTWERPEN
    • Accreditation
    • Neonatal screening: Biochemical diagnosis of Hyperphenylalaninemia/PKU (phenylalanine, tyrosine, aminoacids: tandem MS, blood spots)
    • Provinciaal Centrum voor opsporing van Metabole Aandoeningen (PCMA) - Antwerpen
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Accreditation
    • Biochemical diagnosis of BH4 Deficient Hyperphenylalaninemia (Quinoid Dihydropteridine Reductase activity in erythrocytes)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Accreditation
    • Biochemical diagnosis of Biopterin Metabolism Defects (Analyte: Neopterin and Biopterin in urine, quantitative)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Accreditation
    • Newborn screening : Biochemical diagnosis of hyperphenylalaninemia (amino acid and acylcarnitine in dried blood)
    • Universitätsklinikum Carl Gustav Carus an der TU Dresden
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Molecular diagnosis of GTP Cyclohydrolase I Deficiency (GCH1 gene)
    • AMC - Academisch Medisch Centrum
    • More information
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • Accreditation
    • Biochemical diagnosis of Dihydropteridine Reductase deficiency (Analyte: Dihydropteridine reductase)
    • Birmingham Children's Hospital
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of Dihydropteridine reductase deficiency (QDPR gene: sequencing)
    • CeGaT GmbH
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS gene: sequencing)
    • CeGaT GmbH
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Biochemical diagnosis of Neurotransmission Anomalies (Analyte: Free Catecholamines, Metanephrines, MHPG and Phenolic Acids)
    • AMC - Academisch Medisch Centrum
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Biochemical diagnosis of Biogenic Amine Metabolism Disorders (Analyte: Pterins)
    • AMC - Academisch Medisch Centrum
    • More information
    • FRANCE
    • CHAMPAGNE-ARDENNE
    • REIMS
    • Molecular diagnosis of 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS gene)
    • CHU de Reims - Hôpital Maison Blanche
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Biochemical and molecular diagnosis of BH4 deficiency (PTS gene)
    • Policlinico Umberto I
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Biochemical and molecular diagnosis of GTP cyclohydrolase deficiency (GCH1 gene)
    • Policlinico Umberto I
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular and biochemical diagnosis of dihydropterine reductase deficiency (QDPR gene)
    • Policlinico Umberto I
    • More information
    • ITALY
    • CAMPANIA
    • NAPOLI
    • Biochemical diagnosis of hyperphenylalaninemias (measurement of amino acids and acylcarnitines by tandem mass spectrometry)
    • Biotecnologie Avanzate Srl
    • More information
    • SPAIN
    • Madrid
    • CANTOBLANCO
    • Biochemical and molecular diagnosis of the tetrahydropterin metabolism defects (PTS, QDPR, SPR, GCH1 genes)
    • Universidad Autónoma de Madrid. Facultad de Ciencias
    • More information
    • ITALY
    • VENETO
    • PADOVA
    • Biochemical diagnosis of biogenic amine metabolism disorder
    • Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
    • More information
    • ESTONIA
    • Tartu
    • TARTU
    • Diagnosis of amino acid disorders: quantitative amino acid analysis (HPLC)
    • Tartu University Hospital
    • More information
    • SPAIN
    • Murcia
    • EL PALMAR
    • Biochemical diagnosis of hyperphenylalaninemia and phenulketonuria
    • Hospital Universitario Virgen de la Arrixaca
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Molecular diagnosis of GTP cyclohydrolase I deficiency (GCH1 gene: sequencing)
    • Diagenom GmbH
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Molecular diagnosis of 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS gene: sequencing)
    • Diagenom GmbH
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Molecular diagnosis of dihydropteridine reductase deficiency (QDPR gene: sequencing)
    • Diagenom GmbH
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Molecular diagnosis of dehydratase deficiency (PCBD1 gene: sequencing)
    • Diagenom GmbH
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of GTP cyclohydrolase I deficiency. GCH1 gene.
    • Genetaq
    • More information
    • ITALY
    • LIGURIA
    • GENOVA
    • Biochemical diagnosis of aminoacidopathies (metabolite analysis)
    • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of hyperphenylalaninemias
    • Hospital Clínic de Barcelona
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Biochemical diagnosis of tetrahydrobiopterin deficiency (malignant hyperphenylalaninemia)
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Biochemical diagnosis of hyperphenylalaninemias
    • CGMJM - Centro de Genética Médica Jacinto Magalhães
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Biochemical and molecular diagnosis of GTP cyclohydrolase I deficiency (GCH1 gene)
    • CGMJM - Centro de Genética Médica Jacinto Magalhães
    • More information
    • SPAIN
    • País Vasco
    • BARAKALDO
    • Biochemical diagnosis of phenylketonuria and dihydropteridine reductase deficiency
    • Hospital Universitario Cruces - Osakidetza
    • More information
    • SPAIN
    • País Vasco
    • BARAKALDO
    • Biochemical diagnosis of phenylketonuria and folic acid disorders
    • Hospital Universitario Cruces - Osakidetza
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Biochemical diagnosis of tetrahydrobiopterin deficiency (phenylalanine and DHPR activity in dried blood)
    • Universitätsklinikum Heidelberg
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Biochemical diagnosis of hyperphenylalaninemia due to PTS deficiency (neurotransmitter in liquor, pterine in urine, phenylalanine in dried blood)
    • Universitätsklinikum Heidelberg
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Biochemical diagnosis of hyperphenylalaninemia due to GTP cyclohydrolase I deficiency (neurotransmitter in liquor, pterine in urine, phenylalanine in dried blood)
    • Universitätsklinikum Heidelberg
    • More information
    • UNITED KINGDOM
    • County Antrim
    • BELFAST
    • Biochemical diagnosis of Dihydropteridine Reductase deficiency (Analyte: Dihydropteridine reductase)
    • Royal Group of Hospitals Belfast
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Biochemical diagnosis of GTP cyclohydrolase I deficiency - GTPCH (Analytes: Pterins, Biopterins and Neuropterins)
    • National Hospital for Neurology and Neurosurgery
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Biochemical diagnosis of 6-pyruvoyl-tetrahydropterin synthase deficiency - PTPS (Analytes: Pterins, Biopterins and Neuropterins)
    • National Hospital for Neurology and Neurosurgery
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Biochemical diagnosis of Dihydropteridine Reductase deficiency - DHPR (Analytes: Pterins, Biopterins and Neuropterins)
    • National Hospital for Neurology and Neurosurgery
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Biochemical diagnosis of Dehydratase deficiency - PCD (Analytes: Pterins, Biopterins and Neuropterins)
    • National Hospital for Neurology and Neurosurgery
    • More information
    • SPAIN
    • Cataluña
    • ESPLUGUES DE LLOBREGAT
    • Biochemical diagnosis of 6-pyruvoyl-tetrahydropterin synthase deficiency
    • Hospital Universitari Sant Joan de Déu
    • More information
    • SPAIN
    • Cataluña
    • ESPLUGUES DE LLOBREGAT
    • Biochemical diagnosis of GTP cyclohydrolase I deficiency.
    • Hospital Universitari Sant Joan de Déu
    • More information
    • LITHUANIA
    • DZUKIJA
    • VILNIUS
    • Molecular diagnosis of 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS gene full sequencing)
    • Vilnius University Hospital Santariskiu Klinikos
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of GTP cyclohydrolase I deficiency (GCH1 gene: entire coding sequence)
    • Laboratorio de Genética Clínica, S.L.
    • 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