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45 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular screening of frequent diseases in Ashkenazi Jewish populations (APEX: ABCC8, AGL, ASPA, BCKDHB, BLM, CFTR, CLRN1, DLD, F11, FANCC, G6PC, GBA, GJB2, HEXA, IKBKAP, LDLR, MCOLN1, MEFV, NEB, PCDH15, SERPINA1, SMPD1, TMEM216 and TOR1A genes)
    • Asper Biotech Ltd.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • Technical procedure(s) : PCR based techniques
    • More information
    • ESTONIA
    • Tartu
    • TARTU
    • Accreditation
    • Molecular diagnosis of nemaline myopathy (ACTA1 gene)
    • Universität Würzburg - Biozentrum
    • Purpose(s) : Antenatal diagnosis, 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
    • WÜRZBURG
    • Accreditation
    • Molecular diagnosis of nemaline myopathy (ACTA1, CFL2, KLHL40, KLHL41, KBTBD13, LMOD3, NEB, TMP2, TMP3, TNNT1 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 nemaline myopathy 1, 2, 3, 5 and 7 (ACTA1, CFL2, KBTBD13, NEB, TNNT1, TPM2, TPM3 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 nemaline myopathy (ACTA1 gene)
    • Paxis und Labor Dr. med Karl Mehnert
    • 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
    • NEU-ULM
    • Accreditation
    • Molecular diagnosis of nemaline myopathies (ACTA1, CFL2, KBTBD13, KLHL40, KLHL41, NEB, TNNT1, TPM2, TPM3 genes)
    • Medizinisch Genetisches 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
    • Accreditation
    • Molecular diagnosis of nemaline myopathy (ACTA1, TPM2 genes)
    • 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 Nemaline Myopathy type 6 (KBTBD13 gene)
    • UMCG - Universitair Medisch Centrum Groningen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Groningen
    • GRONINGEN
    • Accreditation
    • Molecular diagnosis of Nemaline Myopathy type 1, 3, 4, 6 and 7 (TPM3, ACTA1, TPM2, KBTBD13 and CFL2 gene)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of nemaline myopathies (ACTA1, CFL2, NEB, TNNT1, TPM2, TPM3 genes)
    • MVZ Fenner & Krasemann
    • 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
    • Accreditation
    • Molecular diagnosis of Nemaline Myopathy type 1, 3, 4, 5, 6, and 7 (TPM3, ACTA1, TPM2, TNNT1, KBTBD13 and CFL2 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 nemaline myopathy (ACTA1, CFL2, NEB, TNNT1, TPM2, TPM3 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 myopathies by NGS panel analysis
    • Universität Würzburg - Biozentrum
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • GERMANY
    • Bayern
    • WÜRZBURG
    • Accreditation
    • Diagnosis of progressive muscular dystrophy (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 nemaline myopathy types 1, 3, 4 and 5 (CFL2, TPM3, ACTA1, TPM2 and TNNT1 genes)
    • CHU de Grenoble site Nord - Institut de biologie et de pathologie
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • RHONE-ALPES
    • GRENOBLE
    • Molecular diagnosis of nemaline myopathy (ACTA1 gene, exon 55 NEB gene).
    • Genetaq
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of nemaline myopathy (TPM2, TPM3 genes)
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of nemaline myopathy (ACTA1, CFL2 genes / entire coding sequence)
    • IMEGEN - Instituto de Medicina Genómica
    • 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, Whole Exome Sequencing (WES)
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of nemaline myopathy (ACTA1 and TPM3 genes)
    • Medizinische Universität Wien
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of nemaline myopathy (ACTA1, TNNT1, TPM3 genes / gen sequencing; NEB gene / deletion exon55)
    • Centro Inmunológico de Alicante (CIALAB)
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Deletion / Duplication analysis
    • More information
    • SPAIN
    • Comunidad Valenciana
    • SANT JOAN D'ALACANT
    • Molecular diagnosis of severe congenital nemaline myopathy (KLHL40 gene)
    • CHU de Grenoble site Nord - Institut de biologie et de pathologie
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • RHONE-ALPES
    • GRENOBLE
    • Molecular diagnosis of intermediate nemaline myopathy (KLHL41 gene)
    • CHU de Grenoble site Nord - Institut de biologie et de pathologie
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • RHONE-ALPES
    • GRENOBLE
    • Diagnosis of nemaline myopathy (gene panel)
    • Bioarray
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • SPAIN
    • Comunidad Valenciana
    • ELCHE
    • Diagnosis of congenital myopathy (Panel)
    • CHU de Grenoble site Nord - Institut de biologie et de pathologie
    • 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
    • RHONE-ALPES
    • GRENOBLE
    • Diagnosis of nemaline myopathy (Panel)
    • CHU de Grenoble site Nord - Institut de biologie et de pathologie
    • 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
    • RHONE-ALPES
    • GRENOBLE
    • Diagnosis of myopathy (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 muscular dysrophy and myopathy (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 nemaline myopathy on muscle biopsy
    • CHU Henri Mondor
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Pathology
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • CRÉTEIL
    • Diagnosis of nemaline myopathy types 1, 2, 3, 4 and 5 (muscle and nerve biopsies : histopathology, immunohistochemistry, electron microscopy)
    • Zentrum für Kinder- und Jugendmedizin Freiburg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Protein expression
    • Technical procedure(s) : Immunohistochemistry
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Molecular diagnosis of Nemaline myopathy (NEB, Mutation analysis, Carrier screening, PGD)
    • Hadassah Ein Kerem - Hebrew University Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • JERUSALEM
    • Molecular diagnosis of Nemaline Myopathy (NEB, Mutation analysis, Carrier screening)
    • Carmel Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • HAIFA
    • Molecular diagnosis of Nemaline myopathy (NEB, Mutation analysis, Carrier screening)
    • Kaplan Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • REHOVOT
    • Molecular diagnosis of Nemaline myopathy (NEB, Mutation analysis, Carrier screening)
    • The Bnai Zion Medical Center, Technion-Rappaport Faculty of Medicine
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • HAIFA
    • Molecular diagnosis of Nemaline myopathy (NEB, Mutation analysis, Carrier screening, PGD)
    • Sheba Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • RAMAT GAN
    • Molecular diagnosis of Nemaline Myopathy (NEB, Mutation analysis, Carrier screening)
    • Rabin Medical Center - Beilinson Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • PETAH TIKVA
    • Molecular diagnosis of Nemaline Myopathy (NEB, Linkage analysis, PGD)
    • Shaare Zedek Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • JERUSALEM
    • Molecular diagnosis of nemaline myopathy (TPM3 gene: sequencing of exons 3-8)
    • University of Tampere
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FINLAND
    • Finland
    • TAMPERE
    • Molecular diagnosis of nemaline myopathy type 4 and 5 (TNNT1 and TPM2 genes)
    • Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • CAMPANIA
    • NAPOLI
    • Diagnosis of nemaline myopathy (ACTA1, NEB, TPM3, TPM2, CFL2, TNNT1 genes)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : 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, PCR based techniques
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of nemalinic myopathy (ACTA1 gene)
    • Fondazione IRCCS Istituto Neurologico "Carlo Besta"
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Reference Centre for neuromuscular diseases: neuropathological, molecular analysis and electronic microscopy of muscle, nerv and skin biopsies
    • Universitätsklinikum Aachen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics, Immunology, Pathology
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • AACHEN
    • Histological diagnosis of Neuromuscular diseases
    • Universitätsklinikum Bonn
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Pathology
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BONN
    • Postnatal molecular diagnosis of nemaline myopathy (sequence analysis of the entire coding region of ACTA1, TPM3 genes)
    • Università degli Studi di Padova- Polo A.Vallisneri
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • ITALY
    • VENETO
    • PADOVA
    • Molecular diagnosis of Nemaline myopathy and Congenital fiber-type disproportion myopathy (ACTA1 gene: sequencing of the coding region)
    • University of Tampere
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FINLAND
    • Finland
    • TAMPERE
    • Molecular diagnosis of Nemaline myopathy 4 (NEM4), CAP myopathy 2 (CAPM2), distal arthrogryposis types 1 and 2 (DA1A and DA2B) (TPM2 gene: sequencing of the coding region)
    • University of Tampere
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FINLAND
    • Finland
    • TAMPERE