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44 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of neurodegeneration with brain iron accumulation (PANK2, PLA2G6 genes)
    • Ruhr-Universität Bochum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BOCHUM
    • Accreditation
    • Molecular diagnosis of Neurodegeneration With Brain Iron Accumulation 1 by sequencing of the entire coding region of gene plus copy number analysis (PANK2 gene)
    • Liverpool Women's NHS Foundation Trust
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • UNITED KINGDOM
    • Merseyside
    • LIVERPOOL
    • Accreditation
    • Molecular diagnosis of Infantile neuroaxonal dystrophy - INAD (PLA2G6 gene)
    • Birmingham Women's NHS Foundation Trust
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • Accreditation
    • Molecular diagnosis of neurodegeneration with brain iron accumulation (FA2H- PANK2, PLA2G6 genes)
    • 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 infantile neuroaxonal dystrophy (PLA2G6 gene)
    • 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
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
    • Ruhr-Universität Bochum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BOCHUM
    • Accreditation
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene: sequencing / MLPA)
    • Centogene AG
    • 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
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of neurodegeneration with brain iron accumulation (C19ORF12, COASY, PLA2G6, PANK2, FTL genes: sequencing)
    • CeGaT 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
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of neurodegeneration with brain iron accumulation (PANK2, PLA2G6 genes: sequencing, MLPA)
    • Bioscientia Institut für Medizinische Diagnostik 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
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • Accreditation
    • Molecular diagnosis of Infantile Neuroaxonal Dystrophy (PLA2G6 gene)
    • UMCG - Universitair Medisch Centrum Groningen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Groningen
    • GRONINGEN
    • Accreditation
    • Molecular diagnosis in case of Unexplained Movement 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
    • 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
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene: sequencing of entire coding region and deletion/duplication analysis by MLPA)
    • Instituto de Biologia Molecular e Celular
    • 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
    • Accreditation
    • Molecular diagnosis of Neurodegeneration With Brain Iron Accumulation 2Aby sequencing of the entire coding region of gene plus copy number analysis - NBIA2A (PLA2G6 gene)
    • Liverpool Women's NHS Foundation Trust
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • UNITED KINGDOM
    • Merseyside
    • LIVERPOOL
    • Accreditation
    • Molecular diagnosis of neurodegeneration with brain iron accumulation (PANK2, PLA2G6 genes)
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • 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) : NGS sequencing (except WES), Sanger sequencing
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Diagnosis of dystonia (Panel)
    • CHU de Marseille - Hôpital de la Timone
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • Molecular diagnosis of Hallervorden-Spatz disease (PANK2 gene)
    • Istituto CSS-Mendel
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of neurodegeneration with brain iron accumulation (ATP13A2, C19ORF12, FA2H, FTL, PANK2, PLA2G6 genes)
    • Helmholtz Zentrum 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
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
    • Helmholtz Zentrum 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
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
    • 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 Infantile neuroaxonal dystrophy (PLA2G6 gene)
    • Universitair Ziekenhuis Brussel - UZBrussel
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
    • Institut für Klinische Genetik Bonn
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BONN
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene): analysis of the entire coding region
    • CGMJM - Centro de Genética Médica Jacinto Magalhães
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of neurodegeneration with brain iron accumulation (PANK2, PLA2G6 genes)
    • Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Molecular diagnosis of PLA2G6-associated neurodegeneration (PLA2G6 gene)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
    • Praxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
    • Sistemas Genómicos S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of neurodegeneration with brain iron accumulation (PLA2G6 gene: sequencing of the entire coding region and deletion/duplication 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 infantile neuroaxonal dystrophy (PLA2G6 gene / sequencing)
    • Centro Inmunológico de Alicante (CIALAB)
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • SANT JOAN D'ALACANT
    • Molecular diagnosis of neurodegeneration with brain iron accumulation (PANK2, PLA2G6, WDR45 genes: sequencing, MLPA)
    • Gemeinschaftspraxis für Humangenetik
    • 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
    • Sachsen
    • DRESDEN
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
    • Genetaq
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of iron accumulation in brain (BPAN, COASY, MPAN, PLANK2 and PLA2G6 genes)
    • Institute of Genomic Medicine and Rare Disorders Semmelwei University
    • Purpose(s) : Post-natal diagnosis, Pre-symptomatic 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
    • HUNGARY
    • Közép-Magyarország
    • BUDAPEST
    • Diagnosis of neurodegeneration with brain iron accumulation (Panel)
    • CHU de Bordeaux-GH Pellegrin
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • AQUITAINE
    • BORDEAUX
    • Diagnosis of parkinsonian disorder (Panel)
    • CHU de Strasbourg - Hôpital Civil
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • ALSACE
    • STRASBOURG
    • Diagnosis of hereditary ataxia (Panel)
    • IURC - Institut Universitaire de Recherche Clinique
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • LANGUEDOC-ROUSSILLON
    • MONTPELLIER
    • Diagnosis of neurodegeneration with brain iron accumulation (Panel)
    • CHRU de Lille - Centre de Biologie Pathologie Génétique
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE
    • Diagnosis of Charcot-Marie-Tooth disease (Panel)
    • CHU d'Angers
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • PAYS DE LA LOIRE
    • ANGERS
    • Molecular diagnosis of Hallervorden-Spatz disease (CP, FTL, PANK2, PLA2G6 genes)
    • CNR
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • CALABRIA
    • MANGONE
    • Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
    • CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of Hallervorden-Spatz syndrome (PANK2 gene)
    • Centralny Szpital Kliniczny
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • POLAND
    • Lodz
    • LODZ
    • Diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • 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