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28 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of all types of Charcot-Marie-Tooth disease (GJB1, FGD4, PMP22, GDAP1, MFN2, LMNA, MTMR2, NDRG1, PRX, MPZ, EGR2, SH3TC2, PRPS1, LITAF, NEFL, YARS and INF2 genes; NGS)
    • CHU de Marseille - Hôpital de la Timone
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • Accreditation
    • Molecular diagnosis of Charcot-Marie-Tooth disease (RAB7A, HSPB3, PMP22, MPZ, GJB1, EGR2, LITAF, MTMR2, GDAP1, MFN2, GARS, HSPB1, HSPB8, NDRG1, BSCL2, NEFL, TRPV4, REEP1 and LMNA genes; NGS)
    • CHU de Limoges - Hôpital Dupuytren
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • LIMOUSIN
    • LIMOGES
    • Accreditation
    • Molecular diagnosis of Charcot-Marie-Tooth disease (PMP22, EGR2, GDAP1, MPZ, GARS, HSPB1, HSPB8, LMNA, and NEFL genes)
    • Medizinische Universität Graz
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • STEIERMARK
    • GRAZ
    • Accreditation
    • Molecular diagnosis of Charcot-Marie-Tooth disease type 4A, B, C, D, H and J (GDAP1, MTMR2, SH3TC2, NDRG1, FGD4 and FIG4 gene)
    • AMC - Academisch Medisch Centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Molecular diagnosis of Charcot-Marie-Tooth disease type 4A, B1, B2, C, D, E, F, G, H, J (EGR2, FIG4, FGD4, GDAP1, HK1, MTMR2, NDRG1, PMP22, PRX, SBF2, SH3TC2)
    • Medizinisch Genetisches Zentrum München
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of Charcot-Marie-Tooth disease type 4A, B1, B2, C, D, E, F, H, J (EGR2, FGD4, FIG4, GDAP1, MTMR2, NDRG1, PMP22, PRX, SBF2, SH3TC2 genes)
    • Centogene AG
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of Charcot-Marie-Tooth disease type 4A, B1, B2, C, D, E, F (EGR2, GDAP1, MTMR2, NDRG1, PRX, SBF2, SH3TC2 genes)
    • Diagenom GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of Charcot-Marie-Tooth disease type 4A, B1, B2, C, D, E, F, H, J (EGR2, FGD4, FIG4, GDAP1, MTMR2, NDRG1, PRX, SBF2, SH3TC2 genes)
    • MVZ Fenner & Krasemann
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of Charcot-Marie-Tooth disease, type 4: CMT4A, CMT4C, CMT4D, CMT4E, CMT4F (GDAP1, SH3TC2, NDRG1, EGR2, PRX genes)
    • Instituto de Biologia Molecular e Celular
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Accreditation
    • Molecular diagnosis of Hereditary Motor and Sensory Neuropathy (HMSN) by NGS: HMSN gene panel (Please refer to additional information: Genes concerned)
    • Liverpool Women's NHS Foundation Trust
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • UNITED KINGDOM
    • Merseyside
    • LIVERPOOL
    • Accreditation
    • Molecular diagnosis of Charcot-Marie-Tooth disease type 4A, B1, B2, C, D, E, F, H, J (EGR2, FGD4, FIG4, GDAP1, MTMR2, NDRG1, PMP22, PRX, SBF2, SH3TC2 genes)
    • Pränatalmedizin München
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of Charcot-Marie-Tooth disease (PMP22, MPZ, GJB1, LITAF, GDAP1, NEFL, EGR2, PRX, SH3TC2, MTMR2, NDRG1, LMNA, HSPB1, BSCL2 ,GARS, HSPB8, GJB1 and MFN2 genes)
    • CHU d'Angers
    • 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, Deletion / Duplication analysis
    • Technical procedure(s) : Sanger sequencing, PCR based techniques, MLPA based techniques
    • More information
    • FRANCE
    • PAYS DE LA LOIRE
    • ANGERS
    • Molecular diagnosis of Charcot-Marie-Tooth disease (PMP22, MPZ, EGR2, NEFL, LITAF, GJB1, GDAP1, MFN2, HSPB1, HSPB8, RAB7, NDRG1, HK1, SH3TC2 genes)
    • CHUS - Complejo Hospitalario Universitario de Santiago
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Galicia
    • SANTIAGO DE COMPOSTELA
    • Molecular diagnosis of Charcot-Marie-Tooth disease (PMP22, MPZ, LITAF, EGR2, MFN2, TRPV4, and GJB1 genes)
    • Praxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of Charcot-Marie-Tooth disease type 4D (NDRG1 Lom gene mutation)
    • CHU de Lyon HCL - GH Est
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : Sanger sequencing
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Molecular diagnosis of Charcot-Marie-Tooth disease type 4D (NRDG1 gene)
    • Sistemas Genómicos S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of Charcot-Marie-Tooth disease type 4D (NDRG1 gene)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of Charcot-Marie-Tooth disease (multigenic panel - NGS)
    • CIBIR - Centro de Investigación Biomédica de La Rioja
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • SPAIN
    • La Rioja
    • LOGROÑO
    • Postnatal molecular diagnosis of Charcot-Marie-Tooth disease (determined by Sanger sequencing and NGS)
    • Azienda Ospedaliera di Padova
    • 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
    • ITALY
    • VENETO
    • PADOVA
    • Molecular diagnosis of hereditary motor and sensory neuropathy (PMP22, GJB1, EGR2, MFN2, MPZ, LITAF, CTDP1, HSPB1 and NDRG1 genes)
    • Institute of Genomic Medicine and Rare Disorders Semmelwei University
    • Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : Sanger sequencing, MLPA based techniques
    • More information
    • HUNGARY
    • Közép-Magyarország
    • BUDAPEST
    • Molecular diagnosis of Charcot-Marie-Tooth disease (PMP22, MPZ, GJB1, LITAF, EGR2, PRX, NDRG1, FIG4, GDAP1, MFN2, NEFL, BSCL2, GARS, YARS, HSPB1, HSPB8, DNM2 genes)
    • Fondazione IRCCS Istituto Neurologico "Carlo Besta"
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Postnatal molecular diagnosis of Charcot-Marie-Tooth disease (sequence analysis of the entire coding region and MLPA of PMP22, MPZ, EGR2, GJB1, MFN2, TRPV4, GARS, NEFL, HSPB1, HSPB8, GDAP1, SH3TC2, NDRG1, PRX 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
    • Technical procedure(s) : MLPA based techniques
    • More information
    • ITALY
    • VENETO
    • PADOVA
    • Diagnosis of Charcot-Marie-Tooth disease by neuro-muscular biopsy
    • GHU Henri Mondor
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Pathology
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • CRÉTEIL
    • Diagnosis of hereditary motor and sensory neuropathy type Lom by neuro-muscular biopsy
    • GHU Henri Mondor
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Pathology
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • CRÉTEIL
    • Molecular diagnosis of Charcot-Marie-Tooth disease type 4D (NDRG1 gene)
    • Motol university hospital - 2nd Medical School Charles University Prague
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • CZECH REPUBLIC
    • Capital City Prague
    • PRAHA
    • Molecular diagnosis of Charcot-Marie-Tooth disease type 4 (entire coding sequence of MPZ, GDAP1, MTMR2, SBF2, SH3TC2, NDRG1, EGR2, PRX, FGD4 and FIG4 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 Charcot-Marie-Tooth disease type 4D (NDRG1 gene)
    • Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BADALONA
    • Diagnostic of Charcot-Marie-Tooth disease type 4D (gene NDRG1 /mutation c.442C>T (p.R148X))
    • Centro de Investigación Príncipe Felipe (CIPF)
    • Purpose(s) : Post-natal diagnosis, Somatic genetics
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : Sanger sequencing, PCR based techniques
    • More information
    • SPAIN
    • Comunidad Valenciana
    • VALENCIA