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41 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of Thyroid Hormone Resistance (TRbeta: exons 7-10)
    • Addenbrooke's Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • Accreditation
    • Newborn screening : Biochemical diagnosis of congenital hypothyroidism (TSH)
    • 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
    • Neonatal screening: Biochemical diagnosis of Congenital Hypothyroidism (TSH: GSP (Delfia method), bloodspots)
    • 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
    • Neonatal screening: Biochemical diagnosis of Congenital Hypothyroidism (TSH: ELISA, bloodspots)
    • CHU Sart Tilman - Liège
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • BELGIUM
    • LIEGE
    • LIEGE
    • Accreditation
    • Neonatal screening of hypothyroidism
    • 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
    • Molecular diagnosis of resistance to thyroid hormone (THRB and THRA genes: search for mutations)
    • CHU de Toulouse - Hôpital Purpan
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • Technical procedure(s) : PCR based techniques
    • More information
    • FRANCE
    • MIDI-PYRENEES
    • TOULOUSE
    • Accreditation
    • Molecular diagnosis of peripheral resistance to thyroid hormones (THRA gene: sequencing, MLPA)
    • Labor Lademannbogen
    • 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
    • Hamburg
    • HAMBURG
    • Accreditation
    • Newborn screening : Biochemical diagnosis of congenital hypothyroidism (immunoassay, TSH, fT3, fT4 in serum, thyroid ultrasonography)
    • Screening-Labor Hannover
    • Purpose(s) : Post-natal diagnosis, Newborn screening
    • Specialty(ies) : Biochemical genetics, Imaging
    • Objective(s) : Analyte / Enzyme assay, Protein expression
    • Technical procedure(s) : Immunohistochemistry
    • More information
    • GERMANY
    • Niedersachsen
    • HANNOVER
    • Neonatal screening of hypothyroidism
    • 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
    • Molecular diagnosis of resistance to thyroid hormone (THRB and THRA genes: search for mutations)
    • CHU d'Angers
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • FRANCE
    • PAYS DE LA LOIRE
    • ANGERS
    • Neonatal screening of hypothyroidism
    • 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
    • Neonatal screening of hypothyroidism
    • CHU d'Angers
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • PAYS DE LA LOIRE
    • ANGERS
    • Immunological diagnosis of congenital hypothyroidism
    • Tartu University Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Immunology
    • More information
    • ESTONIA
    • Tartu
    • TARTU
    • Neonatal screening of congenital hypothyroidism
    • 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 congenital hypothyroidism
    • 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 Hypothyroidism congenital
    • 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
    • Molecular diagnosis of thyroid hormone resistance (THRB gene: common mutations)
    • NZOZ GENOMED
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • More information
    • POLAND
    • Warszawa
    • WARSAW
    • Biochemical diagnosis of congenital hypothyroidism
    • Azienda Ospedaliera "Mater Domini"
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • CALABRIA
    • CATANZARO
    • Molecular diagnosis of resistance to thyroid hormone (THRB gene)
    • Praxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of thyroid hormone resistance (THRB gene: common mutations)
    • MEDGEN
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • More information
    • POLAND
    • Warszawa
    • WARSAW
    • Neonatal screening of hypothyroidism
    • 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 hypothyroidism
    • 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 hypothyroidism
    • CHU de Bordeaux-GH Sud - Hôpital Haut-Lévêque
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • AQUITAINE
    • PESSAC
    • Neonatal screening of hypothyroidism
    • 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
    • Neonatal screening of hypothyroidism
    • 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 neonatal screening of congenital hypothyroidism
    • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • LIGURIA
    • GENOVA
    • Molecular diagnosis of congenital hypothyroidism
    • Croce Rossa Italiana
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Biochemical diagnosis of congenital hypothyroidism
    • 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
    • Molecular diagnosis of congenital hypothyroidism (DUOX2, DUOXA2, FOXE1, FOXI1, PAX8, SECISBP2, SLC16A2, SLC5A5, TG, THRB, TPO, TRH, TRHR, TSHB, TSHR genes)
    • Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Biochemical diagnosis of congenital hypothyroidism
    • Spitalul de Pediatrie Copii Cluj
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ROMANIA
    • CLUJ
    • CLUJ
    • Neonatal screening of congenital hypothyroidism
    • Centre for preventive paediatrics
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • CYPRUS
    • Cyprus
    • LIMASSOL
    • Biochemical neonatal screening of congenital hypothyroidism
    • 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 congenital hypothyroidism
    • Ospedale dei Bambini ''Vittore Buzzi"
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Biochemical diagnosis of congenital hypothyroidism
    • A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • PIEMONTE
    • TORINO
    • Newborn screening : Biochemical diagnosis of congenital hypothyroidism
    • Dietmar-Hopp-Stoffwechselzentrum
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Immunochemical diagnosis of congenital hypothyroidism (TSH, TBG)
    • IJsselland Ziekenhuis
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Protein expression
    • Technical procedure(s) : Immunohistochemistry
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • CAPELLE AAN DEN IJSSEL
    • Biochemical and molecular diagnosis of congenital hypothyroidism (DUOX2, DUOXA2 genes)
    • Centro de Diagnóstico Biomédico - CDB
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of hypothyroidism, congenital
    • Vall d'Hebron Institut de Recerca VHIR
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Newborn screening: Biochemical diagnosis of Congenital Hypothyroidism (Analyte: Thyroxine, Thyroid-Stimulating Hormone and Thyroxine-Binding Globulin)
    • RIVM - Rijksinstituut voor Volksgezondheid en Milieu
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • NETHERLANDS
    • Utrecht
    • BILTHOVEN
    • Molecular diagnosis of resistance to thyroid hormone (THRB gene)
    • Instituto de Investigaciones Biomédicas "Alberto Sols" (CSIC-UAM)
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • MADRID
    • Molecular diagnosis of familial hypothyroidism (SCL5A5, SLC26A4, TG, TPO, DUOX2, DUOXA2, NKX2-1, TSHR, PAX8, TSHB, NKX2-5, FOXE1 and IYD(DEHAL1) genes)
    • University of Eastern Finland
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FINLAND
    • Finland
    • KUOPIO