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27 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of female-restricted epilepsy and mental retardation (PCDH19 gene)
    • Medizinisch Genetisches Zentrum München
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of Early Infantile Epileptic Encephalopathy type 1, 2, 3, 4, 7, 8, 9, 10, 11 and 12 (ARX, CDKL5, SLC25A22, STXBP1, KCNQ2, ARHGEF9, PCDH19, PNKP, SCN2A and PLCB1 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 female-restricted epilepsy and mental retardation (PCDH19 gene)
    • Zentrum für Humangenetik Mannheim
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • MANNHEIM
    • Accreditation
    • Molecular diagnosis of female-restricted epilepsy and mental retardation (PCDH19 gene)
    • CeGaT GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of X-linked Intellectual Deficit due to X-chromosome Inactivation (RFLP and methylation analysis of x-chromosome)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Methylation analysis
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of early infantile epileptic encephalopathy (ARX, CDKL5, KCNQ2, PCDH19, PLCB1, PNKP, SCN1A, SCN2A, SCN8A, SLC25A22, SPTAN1, STXBP1 genes)
    • Centogene AG
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of female-restricted epilepsy and mental retardation (PCDH19 gene)
    • Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • MARTINSRIED
    • Accreditation
    • Molecular diagnosis of Epileptic Encephalopathy (multigene panel; 32 genes)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Accreditation
    • Molecular diagnosis of Generalized Epilepsy with Febrile Seizures plus (multigene panel; 10 genes)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Accreditation
    • Molecular diagnosis of female-restricted epilepsy and mental retardation (PCDH19 gene)
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of female-restricted epilepsy and mental retardation (PCDH19 gene)
    • Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • DORTMUND
    • Accreditation
    • Molecular diagnosis of early infantile epileptic encephalopathy (ARX, CDKL5, PCDH19 genes: sequencing / MLPA)
    • Labor Lademannbogen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Molecular diagnosis of early infantile epileptic encephalopathy (ARX, CDKL5, KCNQ2, KCNT1, PCDH19, SCN1A, SCN2A, SPTAN1 genes)
    • Praxis Dres. Gencik
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • Molecular diagnosis of female-restricted epilepsy and mental retardation (PCDH19 gene)
    • Praxis Dres. Gencik
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • Molecular diagnosis of female-restricted epilepsy and mental retardation (PCDH19 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 female restricted epilepsy with intellectual deficit (PCDH19 gene)
    • Praxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of Early infantile epileptic encephalopathy (STXBP1, SCN8A, PCDH19, SLC25A22 and CDKL5 genes: 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 Epilepsy with mental retardation in females - EFMR (PCDH19 gene)
    • University of Antwerp - UA
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • BELGIUM
    • ANTWERPEN
    • ANTWERPEN
    • Postnatal molecular diagnosis of female restricted epilepsy with intellectual disability (mutation scanning of the entire coding region and MLPA of PCDH19 gene)
    • Azienda Ospedaliera di Padova
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
    • Technical procedure(s) : MLPA based techniques
    • More information
    • ITALY
    • VENETO
    • PADOVA
    • Personalised preimplantation genetic diagnosis: microsatellite analysis on the first polar globule
    • Policlinico Universitario di Padova
    • Purpose(s) : Pre-implantation diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • VENETO
    • PADOVA
    • Molecular diagnosis of X-linked intellectual deficit - epilepsy (entire coding sequence of ATP6AP2 gene)
    • 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 female-restricted epilepsy and mental retardation (PCDH19 gene)
    • Kinderklinik des UKGM am Standort Gießen
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Hessen
    • GIEßEN
    • Molecular diagnosis of female restricted epilepsy with intellectual deficit (PCDH19 gene)
    • Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • TOSCANA
    • SIENA
    • Molecular diagnosis of female restricted epilepsy with intellectual deficit (PCDH19 gene: entire coding sequence)
    • 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 epilepsy (genes panel: ARX, CDKL5, CHRNA2, CHRNA4, CHRNB2, GABRG2, KCNQ2, KCNQ3, LGI1, PCDH19, SCN1A, SCN1B, SCN2A, SLC2A1, STXBP1 / sequencing)
    • Bioarray
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • SPAIN
    • Comunidad Valenciana
    • ELCHE
    • Molecular diagnosis of female restricted epilepsy with intellectual disability (PCDH19 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 female restricted epilepsy with intellectual disability (sequence analysis of entire coding regions and MLPA of PCDH19 gene)
    • Azienda Ospedaliera Universitaria Anna Meyer
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : MLPA based techniques
    • More information
    • ITALY
    • TOSCANA
    • FIRENZE