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Caption : Accreditation =Accreditation
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    • GERMANY
    • Schleswig-Holstein
    • LÜBECK
    • Accreditation
    • Molecular diagnosis of Joubert syndrome type 3, 4 ,5, 6 and 9 (AHI1, CC2D2A, CEP290, NPHP1 and TMEM67 genes)
    • Universitätsklinikum Schleswig-Holstein - Campus Lübeck
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • Accreditation
    • Molecular diagnosis of Joubert syndrome type 1-16 (AHI1, ARL13B, C5ORF42, CEP41, CC2D2A, CEP290, INPP5E, KIF7, NPHP1, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423 genes: sequencing, linkage analysis)
    • Bioscientia Institut für Medizinische Diagnostik GmbH
    • More information
    • GERMANY
    • Baden-Württemberg
    • MANNHEIM
    • Accreditation
    • Molecular diagnosis of Joubert syndrome type 2, 4-7, 9, 10 (CEP290, CC2D2A, NPHP1, OFD1, RPGRIP1L, TMEM67, TMEM216 genes)
    • Zentrum für Humangenetik Mannheim
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Accreditation
    • Molecular diagnosis of Ciliopathy (multigene panel; 77 genes)
    • Erasmus MC, Faculteitsgebouw
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of Joubert Syndrome type 4, 6, 10 and 12 (NPHP1, TMEM67, KIF7 and OFD1 gene)
    • Radboudumc - Radboud universitair medisch centrum
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of Meckel syndrome (CC2D2A, CEP290, KIF7, OFD1, TMEM67 genes)
    • Praxis für Humangenetik Freiburg
    • More information
    • UNITED KINGDOM
    • Oxfordshire
    • OXFORD
    • Accreditation
    • Molecular diagnosis of Joubert Syndrome and Related Disorders (AHI1, ARL13B, CEP290, CEP41, C5orf42, CC2D2A, INPP5E, KIF7, NPHP1, OFD1, RPGRIP1L, TCTN1 genes: Sequencing of the entire coding region of gene (s) plus copy number analysis / Testing for known mutations in family members)
    • The Churchill Hospital
    • More information
    • GERMANY
    • Bayern
    • MARTINSRIED
    • Accreditation
    • Molecular diagnosis of Jouberts syndrome type 1-13 (AHI1, ARL13B, CEP290, CC2D2A, INPP5E, KIF7, NPHP1, OFD1, RPGRIP1L, TCTN1, TMEM216, TMEM67, TTC21B genes)
    • Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of Joubert syndrome type 1-10, 15-17, 19 (AHI1, ARL13B, CEP290, C5ORF42, CC2D2A, CEP41, INPP5E, NPHP1, OFD1, RPGRIP1L, TCTN2, TMEM138, TMEM216, TMEM67, ZNF423 genes)
    • Centogene AG
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of Joubert syndrome type 1-10 (AHI1, ARL13B, CC2D2A, CEP290, INPP5E, NPHP1, OFD1, RPGRIP1L, TMEM67, TMEM216 genes)
    • MVZ Fenner & Krasemann
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of Joubert syndrome type 1-10 (AHI1, ARL13B, CC2D2A, CEP290, INPP5E, NPHP1, OFD1, RPGRIP1L, TMEM216, TMEM67 genes: sequencing)
    • CeGaT GmbH
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of Joubert syndrome (INPP5E, TMEM67, CC2D2A, C5ORF42, CEP41 and OFD1 genes)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of Joubert syndrome and related disorders (AHI1, CEP290, KIF7, RPGRIP1L, TCTN1, TCTN3, TMEM216 genes)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of Joubert syndrome (sequencing for confirming mutation)
    • Istituto CSS-Mendel
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • AACHEN
    • Molecular diagnosis of Joubert syndrome type 1-9 (AHI1, ARL13B, CEP290, CC2D2A, INPP5E, NPHP1, RPGRIP1L, TMEM216, TMEM67 genes: sequencing and linkage analysis)
    • Universitätsklinikum Aachen
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of Joubert syndrome (TMEM67 gene)
    • Sistemas Genómicos S.L.
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of Joubert syndrome (INPP5E gene)
    • Praxis für Humangenetik
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of Joubert syndrome (AHI1, CEP290, INPP5E, CC2D2A, TMEM216 genes: Sequencing of the entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of Nephronophthisis-associated ciliopathy (INVS gene: sequencing of the entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • More information
    • SPAIN
    • Comunidad Valenciana
    • SANT JOAN D'ALACANT
    • Molecular diagnosis of Joubert syndrome (TMEM67 gene / entire coding sequence)
    • Centro Inmunológico de Alicante (CIALAB)
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of Joubert syndrome and related disorders (INPP5E, TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, KIF7, TMEM237, CEP41 genes / complete sequencing)
    • IMEGEN - Instituto de Medicina Genómica
    • More information
    • CANADA
    • Alberta
    • CALGARY
    • Molecular Diagnosis of Joubert syndrome (c.52C>T targeted mutation analysis)
    • Alberta Children's Hospital
    • More information
    • CANADA
    • Alberta
    • CALGARY
    • Molecular Diagnosis Nephronophthisis 1 (homozygous 250 kb deletion of NPHP1 by PCR)
    • Alberta Children's Hospital
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Molecular diagnosis of Joubert syndrome (NGS Screening Panel - genes: AHI1, ARL13B, CC2D2A, CEP290, INPP5E, NPHP1, OFD1, RPGRIP1L, TMEM216, TMEM67)
    • Forschungsinstitut für Augenheilkunde
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of Joubert syndrome (CEP290, AHI1, TMEM67, NPHP1 (homozygous deletion), RPGRIP1L, TMEM216, INPP5E, ARL13B, CC2D2A et TCTN2 genes)
    • CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of Joubert syndrome and related disorders (entire coding sequence of AHI1, CEP290, TMEM67, RPGRIP1L, INPP5E, CC2D2A, ARL13B, TMEM216, OFD1 and NPHP1 genes; NPHP1 gene / homozygous deletion)
    • Laboratorio de Genética Clínica, S.L.
    • More information