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Caption : Accreditation =Accreditation
;

    • Accreditation
    • Neonatal screening of phenylketonuria
    • CHRU de Besançon - Hôpital Saint-Jacques
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • FRANCHE-COMTE
    • BESANÇON
    • Accreditation
    • Biochemical diagnosis of phenylketonuria (amino acids/ HPLC)
    • CHU de Caen - Hôpital de la Côte de Nacre
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • BASSE-NORMANDIE
    • CAEN
    • Accreditation
    • Biochemical diagnosis of phenylketonuria
    • Laboratoire Cerba
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • SAINT-OUEN-L'AUMÔNE
    • Accreditation
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • DORTMUND
    • Accreditation
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • Institut für Humangenetik am Universitätsklinikum Heidelberg
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Accreditation
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • Medizinisches Versorgungszentrum Humane Genetik
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Biochemical diagnosis of phenylketonuria
    • CHU de Nice - Hôpital Pasteur
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • NICE
    • Accreditation
    • Biochemical diagnosis of hyperphenylalaninemia
    • CHU de Nice - Hôpital Pasteur
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • NICE
    • Accreditation
    • Molecular diagnosis of Phenylketonuria (PAH gene)
    • Erasme Hospital - ULB
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Accreditation
    • Biochemical diagnosis of phenylketonuria
    • CHRU de Lille - Centre de Biologie Pathologie Génétique
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE
    • Accreditation
    • Molecular diagnosis of Phenylketonuria (PAH gene)
    • AZM - Academisch Ziekenhuis Maastricht
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Limburg
    • MAASTRICHT
    • Accreditation
    • Molecular diagnosis of Phenylketonuria (PAH gene)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Accreditation
    • Molecular diagnosis of Phenylketonuria (PKU) by sequencing of the entire coding region (PAH gene)
    • Southmead Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • UNITED KINGDOM
    • Avon
    • BRISTOL
    • Accreditation
    • Biochemical and molecular diagnosis of phenylketonuria (PAH gene)
    • 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 diagnosis of phenylketonuria
    • CHU de Toulouse - Hôpital Purpan
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • MIDI-PYRENEES
    • TOULOUSE
    • Accreditation
    • Molecular diagnosis of phenylketonuria
    • MVZ Labor Dr. Reising-Ackermann und Kollegen
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Sachsen
    • LEIPZIG
    • Accreditation
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • Labor Lademannbogen
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of phenylketonuria (PAH gene: sequencing / MLPA)
    • Diagenom GmbH
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Biochemical diagnosis of Amino Acid Metabolism and Transport Defects (Analyte: Amino Acids in plasma (D- and L-Amino Acids), urine and CSF (D- and L-Amino Acids), quantitative)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Accreditation
    • Newborn screening : Biochemical diagnosis of Phenylketonuria (amino acid and acylcarnitine in dried blood)
    • Universitätsklinikum Carl Gustav Carus an der TU Dresden
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • 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
    • Biochemical diagnosis of Aminoacidopathies (by aminoacid analysator & tandem MS : serum, urine, CSF)
    • Provinciaal Centrum voor opsporing van Metabole Aandoeningen (PCMA) - Antwerpen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • 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
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • BELGIUM
    • ANTWERPEN
    • ANTWERPEN
    • Accreditation
    • Molecular diagnosis of Phenylketonuria (PAH gene)
    • Medizinische Universität Innsbruck
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • TIROL
    • INNSBRUCK
    • Accreditation
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • Labor PD Dr. Volkmann und Kollegen
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • KARLSRUHE
    • Accreditation
    • Biochemical diagnosis of Aminoacidopathies (by aminoacid analysator & tandem MS : serum, urine, CSF)
    • CHU Sart Tilman - Liège
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • BELGIUM
    • LIEGE
    • LIEGE
    • Accreditation
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • Centogene AG
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of Phenylketonuria (PAH gene)
    • Erasmus MC, Faculteitsgebouw
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Accreditation
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • MARTINSRIED
    • 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 phenylketonuria (PAH gene: sequencing / MLPA)
    • 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 classical phenylketonuria (PAH 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 phenylketonuria (PAH gene)
    • Mitteldeutscher Praxisverbund Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Accreditation
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • 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 phenylketonuria
    • Institut für angewandte Humangenetik und Onkogenetik
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • BAD STEBEN
    • Accreditation
    • Molecular diagnosis of Phenylketonuria by cequencing of the entire coding region of gene (s) / copy number analysis (PAH gene)
    • Belfast City Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • UNITED KINGDOM
    • Antrim and Newtownabbey
    • BELFAST
    • Accreditation
    • Screen of amino acids (free) in plasma, urine and liquor
    • Centre Hospitalier Universitaire Vaudois CHUV
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SWITZERLAND
    • Suisse Romande
    • LAUSANNE
    • Accreditation
    • Biochemical diagnosis of PKU and Tyrosinaemia (Analyte: Phenylalanine / Tyrosine)
    • The Sheffield Children's Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Biochemical diagnosis of Aminoacidopathies (Analyte: Quantitative and Qualitative amino acids)
    • The Sheffield Children's Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Biochemical diagnosis of Aminoacidopathies (Analyte: Quantitative amino acids)
    • The Great North Children's Hospita, Royal Victoria Infirmary
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • Accreditation
    • Biochemical diagnosis of PKU and Tyrosinaemia (Analyte: Phenylalanine / Tyrosine)
    • The Great North Children's Hospita, Royal Victoria Infirmary
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • Accreditation
    • Biochemical diagnosis of Aminoacidopathies (Analyte: Quantitative amino acids)
    • Royal Hospital for Sick Children
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Strathclyde
    • GLASGOW
    • Accreditation
    • Biochemical diagnosis of PKU and Tyrosinaemia (Analyte: Phenylalanine / Tyrosine)
    • Royal Hospital for Sick Children
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Strathclyde
    • GLASGOW
    • Accreditation
    • Biochemical diagnosis of the disorders of Amino Acid Metabolism (Analyte: Amino Acids, qualitative and quantitative)
    • St Mary's Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Greater Manchester
    • MANCHESTER
    • Accreditation
    • Biochemical diagnosis of PKU & Tyrosinaemia (Analyte: Phenylalanine & tyrosine)
    • St Mary's Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Greater Manchester
    • MANCHESTER
    • Accreditation
    • Biochemical diagnosis of Aminoacidopathies (Analyte: Amino Acids and PUFA)
    • 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 Amino acid metabolism diseases (amino acid in urine/plasma/liquor)
    • UKE - Universitätsklinikum Hamburg-Eppendorf
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Biochemical diagnosis of Phenylalanin or Tyrosine metabolism disorder (Analyte: Phenylalanine/Tyrosine)
    • Birmingham Children's Hospital NHS Foundation Trust
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • Accreditation
    • Biochemical diagnosis of Phenylalanin or Tyrosine metabolism disorder (Analyte: Phenylalanine/Tyrosine)
    • Bristol Royal Infirmary
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Avon
    • BRISTOL
    • Accreditation
    • Biochemical diagnosis of Phenylalanin or Tyrosine metabolism disorder (Analyte: Phenylalanine/Tyrosine)
    • Addenbrooke's Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • Accreditation
    • Biochemical diagnosis of Phenylalanine and Tyrosine Metabolism Disorders (Analyte: Phenylalanine, Tyrosine and 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
    • Accreditation
    • Newborn screening : Biochemical diagnosis of Phenylketonuria (tandem mass spectrometry, enzyme assay)
    • Screening-Labor Hannover
    • Purpose(s) : Post-natal diagnosis, Newborn screening
    • Specialty(ies) : Biochemical genetics, Imaging
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Niedersachsen
    • HANNOVER
    • Biochemical diagnosis of phenylketonuria
    • 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
    • Neonatal screening of phenylketonuria
    • CHU de Lyon HCL - GH Est
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Neonatal screening of phenylketonuria
    • CHU de Caen - Hôpital de la Côte de Nacre
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • BASSE-NORMANDIE
    • CAEN
    • Neonatal screening of phenylketonuria
    • CHU d'Angers
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • PAYS DE LA LOIRE
    • ANGERS
    • Biochemical diagnosis of phenylketonuria
    • CHU d'Angers
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • PAYS DE LA LOIRE
    • ANGERS
    • Biochemical diagnosis of phenylketonuria
    • CHU de Grenoble site Nord - Institut de biologie et de pathologie
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • RHONE-ALPES
    • GRENOBLE
    • Biochemical diagnosis of phenylketonuria
    • CHU Paris - Hôpital Robert Debré
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Biochemical and molecular diagnosis of phenylketonuria (PAH 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
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • Laboratorio Genoma
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Biochemical diagnosis of phenylketonuria and dihydropteridine reductase deficiency
    • Hospital Universitario Cruces - Osakidetza
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SPAIN
    • País Vasco
    • BARAKALDO
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • Centro de Diagnóstico Biomédico - CDB
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • Biotecnologie Avanzate Srl
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • CAMPANIA
    • NAPOLI
    • Biochemical and molecular diagnosis of phenylketonuria, typical and atypical (PAH gene)
    • Ospedale Regionale per le Microcitemie
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • SARDEGNA
    • CAGLIARI
    • Prenatal and postnatal molecular and biochemical diagnosis of phenylketonuria (PAH gene: mutation screening ; carrier analysis ; phenylalanine and tyrosine in plasma and serum)
    • Kennedy Center
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Analyte / Enzyme assay
    • More information
    • DENMARK
    • Sjælland
    • GLOSTRUP
    • Molecular and immunological diagnosis of phenylketonuria (PAH gene)
    • Tartu University Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ESTONIA
    • Tartu
    • TARTU
    • Molecular diagnosis of phenylketonuria (reference lab EMQN)
    • Klinikum Stuttgart - Standort Olgahospital
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • STUTTGART
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • Sistemas Genómicos S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Diagnosis of amino acid disorders: quantitative amino acid analysis (HPLC)
    • Tartu University Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ESTONIA
    • Tartu
    • TARTU
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • Haukeland University Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NORWAY
    • Vestlandet
    • BERGEN
    • Prenatal and postnatal diagnosis of phenylketonuria (PAH gene)
    • Genexpress Ltd.
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SLOVAKIA
    • Bratislavsky kraj
    • BRATISLAVA
    • Biochemical and molecular diagnosis of phenylketoneuria (PAH 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 phenylketonuria by PCR-RFLP (PAH gene)
    • Semmelweis University Hospital - 2nd Department of Paediatrics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : PCR based techniques
    • More information
    • HUNGARY
    • Közép-Magyarország
    • BUDAPEST
    • Neonatal screening of phenylketonuria
    • CHRU de Lille - Centre de Biologie Pathologie Génétique
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE
    • Biochemical diagnosis of hyperphenylalaninemia and phenulketonuria
    • Centro de Bioquímica y Genética Clínica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SPAIN
    • Murcia
    • EL PALMAR
    • Biochemical diagnosis of phenylketonuria
    • Azienda Ospedaliera "Mater Domini"
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • CALABRIA
    • CATANZARO
    • Biochemical diagnosis of phenylketonuria
    • Biotecnologie Avanzate Srl
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • CAMPANIA
    • NAPOLI
    • Molecular diagnosis of Phenylketonuria (PAH gene)
    • Karolinska University Hospital - Solna
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • Biochemical diagnosis of Aminoacidopathies (Analyte: Quantitative amino acids)
    • St Thomas' Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Biochemical diagnosis of Phenylalanin or Tyrosine metabolism disorder (Analyte: Phenylalanine/Tyrosine)
    • St Thomas' Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Biochemical diagnosis of phenylketonuria
    • CHU de Lyon HCL - GH Est
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Neonatal screening of phenylketonuria
    • CHU de Grenoble site Nord - Institut de biologie et de pathologie
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • RHONE-ALPES
    • GRENOBLE
    • Molecular diagnosis of phenylketonuria (PAH gene / sequence analysis: exons 7-8, 11-12 and entire coding region)
    • Genetaq
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Portuguese National Neonatal Screening Program (Guthrie test)
    • Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Biochemical diagnosis of phenylketonuria
    • 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 phenylketonuria (PAH gene / complete sequencing)
    • 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 phenylketonuria (PAH gene)
    • NZOZ Centrum Genetyki Medycznej Genesis
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • POLAND
    • Poznan
    • POZNAN
    • Molecular diagnosis of phenylketonuria (PAH gene: mutation screening and exons sequencing)
    • Instytut Matki i Dziecka
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • More information
    • POLAND
    • Warszawa
    • WARSZAWA
    • Molecular diagnosis of phenylketonuria (entire coding sequence of PAH gene)
    • Lorgen G.P.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • SPAIN
    • Andalucía
    • ARMILLA
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • Praxis Dres. Gencik
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • Neonatal screening of phenylketonuria (MS/MS)
    • Genetadi Biotech S.L.
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SPAIN
    • País Vasco
    • DERIO
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • Institut für Humangenetik des Universitätsklinikums Münster
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • MÜNSTER
    • Molecular diagnosis of phenylketonuria (PAH gene: 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 phenylketonuria (PAH gene)
    • UKE - Universitätsklinikum Hamburg-Eppendorf
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Preimplantation genetic diagnosis of phenylketonuria (PAH gene)
    • CME Barcelona
    • Purpose(s) : Pre-implantation diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of Phenylketonuria (by HPLC: in plasma)
    • Montreal Children's hospital - Hôpital de Montréal pour enfants
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • CANADA
    • Québec
    • MONTRÉAL
    • Biochemical diagnosis of Amino acid metabolism diseases (Analyte: Amino Acids in plasma/urine/CSF by HPLC, quantitative)
    • Montreal Children's hospital - Hôpital de Montréal pour enfants
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • CANADA
    • Québec
    • MONTRÉAL
    • Molecular diagnosis of Phenylalanine hydroxylase deficiency (PAH gene: sequencing of the 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 phenylketonuria (PAH gene by sequencing)
    • Montreal Children's hospital - Hôpital de Montréal pour enfants
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • CANADA
    • Québec
    • MONTRÉAL
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • Klinikum Stuttgart - Standort Olgahospital
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • STUTTGART
    • Biochemical diagnosis of amino acid metabolism diseases (amino acid in urine/serum)
    • Zentrum für Kinder- und Jugendmedizin Freiburg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Postnatal molecular diagnosis of phenylketonuria (sequence analysis of the entire coding region of PAH 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
    • More information
    • ITALY
    • VENETO
    • PADOVA
    • Neonatal screening of phenylketonuria
    • CHU de Dijon - Plateau technique de Biologie
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • BOURGOGNE
    • DIJON
    • Neonatal screening of phenylketonuria
    • CHU de Strasbourg - Hôpital Civil
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • ALSACE
    • STRASBOURG
    • Neonatal screening of phenylketonuria
    • CHU de Limoges - Hôpital Dupuytren
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • LIMOUSIN
    • LIMOGES
    • Neonatal screening of phenylketonuria
    • Centre régional de dépistage néonatal
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE
    • Biochemical diagnosis of phenylketonuria
    • CHU de Brest - Hôpital de la Cavale Blanche
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • BRETAGNE
    • BREST
    • Neonatal screening of phenylketonuria
    • CHU de Nantes - Hôpital femme-enfant-adolescent
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • PAYS DE LA LOIRE
    • NANTES
    • Biochemical diagnosis of aminoacidopathies (metabolite analysis)
    • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • LIGURIA
    • GENOVA
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • Azienda Ospedaliera "San Paolo" - Università degli Studi di Milano
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • Labor für molekulare Genetik und metabolische Erkrankungen
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • Croce Rossa Italiana
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Biochemical diagnosis of phenylketonuria
    • Klinikum Schwabing, Städt. Klinikum GmbH
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Biochemical diagnosis of hyperphenylalaninemias
    • Centro de Diagnóstico Biomédico - CDB
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of phenylketonuria
    • Centro de Diagnóstico Biomédico - CDB
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • Azienda Ospedaliera Pugliese Ciaccio
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • CALABRIA
    • CATANZARO
    • Biochemical diagnosis of phenylketonuria (HPLC of amino acids)
    • CHU de Dijon - Plateau technique de Biologie
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • BOURGOGNE
    • DIJON
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • IRCCS OASI Maria Santissima
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • SICILIA
    • TROINA
    • Biochemical neonatal screening of phenylketonuria and mild hyperphenylalaninemia
    • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • LIGURIA
    • GENOVA
    • Biochemical diagnosis of phenylketonuria, typical and atypical
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Biochemical diagnosis of phenylketonuria
    • CHUS - Complejo Hospitalario Universitario de Santiago
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SPAIN
    • Galicia
    • SANTIAGO DE COMPOSTELA
    • Biochemical diagnosis of phenylketonuria
    • 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 phenylketonuria
    • Clinical Research Institute HUCH Ltd
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FINLAND
    • Finland
    • HELSINKI
    • Biochemical diagnosis of aminoacidopathies
    • Medizinische Universität Innsbruck
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • AUSTRIA
    • TIROL
    • INNSBRUCK
    • Biochemical genetics diagnosis of phenylketonuria : quantitation of amino acids
    • Institute of Child Health
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GREECE
    • ATTIKI
    • ATHENS
    • Neonatal screening of phenylketonuria
    • Centre for preventive paediatrics
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • CYPRUS
    • Cyprus
    • LIMASSOL
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • University hospital of Obstetrics and Gynecology
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • BULGARIA
    •  South-West region
    • SOFIA
    • Postnatal and prenatal molecular diagnosis of phenylketonuria (PAH gene)
    • University hospital Brno
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • CZECH REPUBLIC
    • South Moravia
    • BRNO
    • Biochemical and molecular diagnosis of phenylketonuria (PAH gene)
    • Azienda Ospedaliera Universitaria Anna Meyer
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • TOSCANA
    • FIRENZE
    • Prenatal and postnatal molecular diagnosis of phenylketonuria (PAH gene)
    • Genomac International s.r.o.
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • CZECH REPUBLIC
    • Capital City Prague
    • PRAHA
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • Acibadem healthcare group
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • TURKEY
    • TURKEY
    • ISTANBUL
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • BURC Genetics Diagnostic Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • TURKEY
    • TURKEY
    • ISTANBUL
    • Biochemical diagnosis of phenylketonuria
    • CHU de Rouen - Hôpital Charles Nicolle
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • HAUTE-NORMANDIE
    • ROUEN
    • Neonatal screening of phenylketonuria
    • CHU de Bordeaux-GH Pellegrin
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • AQUITAINE
    • BORDEAUX
    • Biochemical diagnosis of amino acid disorders : amino acid identification by thin layer chromatography
    • Vilnius University Hospital Santariskiu Klinikos
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • LITHUANIA
    • DZUKIJA
    • VILNIUS
    • Biochemical neonatal screening for phenylketonuria
    • Vilnius University Hospital Santariskiu Klinikos
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • LITHUANIA
    • DZUKIJA
    • VILNIUS
    • Biochemical diagnosis of phenylketonuria
    • Ospedale Santa Croce
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • MARCHE
    • FANO
    • Biochemical diagnosis of phenylketonuria
    • Ospedale dei Bambini ''Vittore Buzzi"
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Newborn screening : Biochemical diagnosis of Phenylketonuria
    • Dietmar-Hopp-Stoffwechselzentrum
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Biochemical diagnosis of phenylketonuria (phenylalanine in dried blood)
    • Dietmar-Hopp-Stoffwechselzentrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Molecular diagnosis of Phenylketonuria (PAH gene)
    • GENICA
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • BULGARIA
    •  South-West region
    • SOFIA
    • Biochemical diagnosis of Amino acid metabolism diseases (amino acid in urine/plasma/liquor)
    • Universitätsmedizin Göttingen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Niedersachsen
    • GÖTTINGEN
    • Biochemical diagnosis of phenylketonuria
    • Universitätsmedizin Göttingen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Niedersachsen
    • GÖTTINGEN
    • Molecular diagnosis of PhenylKetonuria (PAH, Mutation analysis, PGD)
    • Sheba Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • RAMAT GAN
    • Newborn screening: Tandem-MS diagnosis of Phenylketonuria (Analyte: Phenylalanine and ratio Phenylalanine/Tyrosine)
    • RIVM - Rijksinstituut voor Volksgezondheid en Milieu
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • NETHERLANDS
    • Utrecht
    • BILTHOVEN
    • Tandem-MS screening of phenylketonuria (phenylalanine, tyrosine)
    • Isala Klinieken, locatie Sophia
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • NETHERLANDS
    • Overijssel
    • ZWOLLE
    • Tandem-MS diagnosis of phenylketonuria (phenylalanine, tyrosine)
    • St. Elisabeth Ziekenhuis
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • NETHERLANDS
    • Noord-Brabant
    • TILBURG
    • Tandem-MS diagnosis of phenylketonuria (phenylalanine, tyrosine)
    • IJsselland Ziekenhuis
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • CAPELLE AAN DEN IJSSEL
    • Biochemical diagnosis of Amino acid metabolism diseases
    • Universitätsklinikum Düsseldorf
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics, Other
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • DÜSSELDORF
    • Biochemical diagnosis of Amino acid metabolism diseases
    • Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Biochemical diagnosis of Aminoacidopathies (Analyte: Quantitative amino acids)
    • National Hospital for Neurology and Neurosurgery
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Biochemical diagnosis of phenylketonuria
    • 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 Aminoacidopathies (Analyte: Quantitative amino acids)
    • Royal Hospital for Sick Children
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Lothian
    • EDINBURGH
    • Biochemical diagnosis of Phenylalanin or Tyrosine metabolism disorder (Analytes: Phenylalanine/Tyrosine)
    • Great Ormond Street Hospital for Children, NHS Foundation Trust
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Biochemical diagnosis of Phenylalanine hydroxylase deficiency - PAH (Analytes: Pterins, Biopterins and Neuropterins)
    • National Hospital for Neurology and Neurosurgery
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Biochemical diagnosis of Phenylketonuria (Analyte: Pterins, Biopterins and Ubiquinone-10)
    • National Hospital for Neurology and Neurosurgery
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Molecular diagnosis of phenylketonuria (PAH gene sequencing)
    • Institute of Child Health
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GREECE
    • ATTIKI
    • ATHENS
    • 'Molecular diagnosis of phenylketonuria (PAH gene: R408W, L48S, R261Q, R261X, IVS10-11G>A and R158Q mutation screen by PCR-RFLP; analysis of 13 exons and their flanking introns by DGGE)'
    • Institute of Molecular Genetics and Genetic Engineering
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : PCR based techniques
    • More information
    • SERBIA
    • Serbia
    • BELGRADE
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • Uniwersytecki Szpital Dzieciecy w Krakowie
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • POLAND
    • Kraków
    • KRAKOW
    • Biochemical diagnosis of Amino acid metabolism diseases (amino acid in urine/plasma/liquor)
    • Medizinische Hochschule Hannover
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Niedersachsen
    • HANNOVER
    • Neonatal screening of phenylketonuria
    • CHU de Reims - American Memorial Hospital
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • CHAMPAGNE-ARDENNE
    • REIMS
    • Biochemical diagnosis of Phenylalanin or Tyrosine metabolism disorder (Analyte: Phenylalanine/Tyrosine)
    • St James's University Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • West Yorkshire
    • LEEDS
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • CHU de Nancy - Hôpital de Brabois
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • FRANCE
    • LORRAINE
    • VANDOEUVRE-LÈS-NANCY
    • Molecular diagnosis of phenylketonuria (sequencing of PAH gene)
    • Genyca Innova
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • MAJADAHONDA
    • Molecular diagnosis of phenylketonuria (PAH gene)
    • Policlinico S. Orsola-Malpighi - Area S. Orsola
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • EMILIA ROMAGNA
    • BOLOGNA
    • 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
    • Preimplantation genetic diagnosis of phenylketonuria (PAH gene)
    • Igenomix Spain
    • Purpose(s) : Pre-implantation diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Biochemical and molecular diagnosis of Phenylketonuria (PAH gene)
    • Medizinische Universität Graz
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • AUSTRIA
    • STEIERMARK
    • GRAZ
    • Molecular diagnosis of phenylketonuria (PAH gene: R408W mutation; then - sequencing)
    • Vilnius University Hospital Santariskiu Klinikos
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • LITHUANIA
    • DZUKIJA
    • VILNIUS
    • Biochemical diagnosis of Alkaptonuria (AKU) (Analyte: Human Granulocytic Anaplasmosis (HGA), tyrosine, nitisinone)
    • Royal Liverpool University Hospital NHS - Duncan Building
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Merseyside
    • LIVERPOOL
    • Biochemical diagnosis of Amino acid metabolism diseases (amino acids in plasma, serum, urine, liquor)
    • Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Hessen
    • FRANKFURT AM MAIN