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41 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of aniridia (PAX6 gene)
    • Bioscientia Institut für Medizinische Diagnostik GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • Accreditation
    • Molecular and molecular cytogenetic diagnosis of Aniridia and WAGR syndrome (PAX6 and WT1 analysis by FISH followed by sequencing)
    • Salisbury District Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
    • Technical procedure(s) : FISH
    • More information
    • UNITED KINGDOM
    • Wiltshire
    • SALISBURY
    • Accreditation
    • Molecular diagnosis of Aniridia (PAX6 and SOX2 gene)
    • AMC - Academisch Medisch Centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Molecular diagnosis of Primary Glaucoma (MYOC, OPTN and CYP1B1 gene)
    • AMC - Academisch Medisch Centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Molecular diagnosis of sporadic aniridia (PAX6 gene)
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome (PAX6 gene: full intragenic mutation screen)
    • Salisbury District Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • Technical procedure(s) : Sanger sequencing, MLPA based techniques
    • More information
    • UNITED KINGDOM
    • Wiltshire
    • SALISBURY
    • Accreditation
    • Molecular diagnosis of PAX6 gene-associated diseases (sequencing / MLPA)
    • Centogene AG
    • 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
    • Molecular diagnosis of PAX6 gene-associated diseases
    • 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 aniridia (PAX6 gene)
    • Praxis Dr. Mato Nagel
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Sachsen
    • WEIßWASSER
    • Accreditation
    • Molecular diagnosis of aniridia (PAX6 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 PAX6 gene-associated diseases (PAX6 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 aniridia (PAX6 gene)
    • Asper Biotech Ltd.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • ESTONIA
    • Tartu
    • TARTU
    • Accreditation
    • Preimplantation genetic diagnosis of aniridia (PAX6 gene)
    • Sistemas Genómicos S.L.
    • Purpose(s) : Pre-implantation diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of sporadic aniridia (PAX6 gene)
    • Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • FRIULI VENEZIA GIULIA
    • UDINE
    • Molecular diagnosis of hereditary glaucoma (MYOC, OPTN genes)
    • Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • TOSCANA
    • SIENA
    • Prenatal and postnatal genetic diagnosis of aniridia (PAX6 gene: MLPA, Sequencing ; known mutations for prenatal)
    • Kennedy Center
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • Technical procedure(s) : MLPA based techniques
    • More information
    • DENMARK
    • Sjælland
    • GLOSTRUP
    • Molecular diagnosis of Hereditary Glaucoma (CYP1B1 and MYOC genes)
    • Institut de Recherche en Ophtalmologie - IRO
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SWITZERLAND
    • Suisse Romande
    • SION
    • Molecular diagnosis of Aniridia (PAX6 gene)
    • Institut de Recherche en Ophtalmologie - IRO
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SWITZERLAND
    • Suisse Romande
    • SION
    • Molecular cytogenetics diagnosis of aniridia (PAX6 gene)
    • Haukeland University Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • NORWAY
    • Vestlandet
    • BERGEN
    • Molecular diagnosis of aniridia (PAX6 gene)
    • Karolinska University Hospital - Clinical Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • Molecular diagnosis of PAX6 gene-associated diseases (sequencing / MLPA)
    • Praxis Dres. Gencik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • Molecular diagnosis of PAX6 gene-associated diseases
    • Humangenetisches Institut am Universitätsklinikum Erlangen
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • ERLANGEN
    • Molecular diagnosis of aniridia (PAX6 gene: sequencing / MLPA)
    • bio.logis Zentrum 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
    • Hessen
    • FRANKFURT AM MAIN
    • Molecular diagnosis of PAX6-related aniridia (PAX6 gene)
    • NZOZ Centrum Genetyki Medycznej Genesis
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • POLAND
    • Poznan
    • POZNAN
    • Molecular diagnosis of hereditary glaucoma (MYOC, OPTN, CYP1B1 genes)
    • NZOZ Centrum Genetyki Medycznej Genesis
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • POLAND
    • Poznan
    • POZNAN
    • Molecular diagnosis of aniridia (aCGH)
    • Genetadi Biotech S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • País Vasco
    • DERIO
    • Molecular diagnosis of PAX6 gene-associated diseases
    • Institut für Humangenetik am Universitätsklinikum Köln
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • KÖLN
    • Molecular diagnosis of aniridia (PAX6 gene)
    • Praxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of hereditary glaucoma (CYP1B1 gene)
    • Praxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of hereditary glaucoma (MYOC, OPTN, WDR36 genes: mutation screening ; CYP1B1: prenatal screening)
    • Kennedy Center
    • Purpose(s) : Antenatal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • More information
    • DENMARK
    • Sjælland
    • GLOSTRUP
    • Molecular diagnosis of Aniridia (PAX6 gene: Sequencing of entire coding region and deletion analysis by MLPA)
    • CGC Genetics / Centro de Genética Clínica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : MLPA based techniques
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of aniridia (PAX6 gene / NGS sequencing, MLPA)
    • DNA Data
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES), MLPA based techniques
    • More information
    • SPAIN
    • País Vasco
    • SAN SEBASTIÁN
    • Molecular diagnosis of Gillespie syndrome (ITPR1 gene)
    • Gemeinschaftspraxis für Humangenetik
    • 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
    • GERMANY
    • Sachsen
    • DRESDEN
    • Molecular diagnosis of hereditary glaucoma (CYP1B1 and MYOC/TIGR genes)
    • Ospedale Niguarda Ca' Granda
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Molecular diagnosis of hereditary glaucoma (MYOC and CYP1B1 gene sequencing)
    • Institute of Child Health
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GREECE
    • ATTIKI
    • ATHENS
    • Molecular diagnosis of congenital glaucoma (entire coding sequence of CYP1B1, OPTN, MYOC, WDR36 and LTBP2 genes)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of hereditary glaucoma (sequencing of CYP1B1 and MYOC genes)
    • Genyca Innova
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • MAJADAHONDA
    • Preimplantation genetic diagnosis of aniridia (PAX6 gene)
    • Igenomix Spain
    • Purpose(s) : Pre-implantation diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of isolated/syndromic aniridia (PAX6 gene)
    • Albrecht-Kossel-Institute for Neuroregeneration (AKos)
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Molecular diagnosis of aniridia (PAX6 gene)
    • Centro de estudios genéticos ATG Medical
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • TRES CANTOS
    • Postnatal molecular diagnosis of aniridia (sequence analysis of the entire coding region of PAX6 gene)
    • Azienda Ospedaliera Universitaria Anna Meyer
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • ITALY
    • TOSCANA
    • FIRENZE