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32 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of familial spastic paraplegia (ATL1, SPAST, SPG7, SPG11 and REEP1 genes)
    • Institut für Humangenetik der Universität Göttingen
    • 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
    • GÖTTINGEN
    • Accreditation
    • Molecular diagnosis of Autosomal Dominant Spastic Paraplegia type 3A, 4, 6, 8, 10, 12, 13, 17, 31 and 42 (ATL1, SPAST, NIPA1, KIAA0196, KIF5A, RTN2, HSPD1, BSCL2, REEP1 and SLC33A1 gene)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of spastic paraplegia (ATL1, B4GALNT1, CYP7B1, REEP1, SPAST, SPG7, SPG11, SPG14, SPG20, SPG21, ZFYVE26 genes: sequencing, NGS panel spastic paraplegia, MLPA, linkage analysis)
    • Universitätsklinikum Regensburg
    • 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
    • REGENSBURG
    • Accreditation
    • Molecular diagnosis of spastic paraplegia (genes: ATL1, ACP33, BSCL2, CYP7B1, C12ORF65, FA2H, HSPD1, KIAA0196, KIF5A, L1CAM, NIPA1, PLP1, PNPLA6, REEP1, SLC33A1, SPAST, SPG3A, SPG7, SPG11, SPG20, SPG21, ZFYVE26 and ZFYVE27)
    • Centogene AG
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of familial spastic paraplegia type 3, 4, 5A, 7, 8, 10, 11, 13, 17 and 31 (ATL1, BSCL2, CYP7B1, HSP60, KIF5A, REEP1, SPAST, SPG7, SPG11 genes)
    • Ruhr-Universität Bochum
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BOCHUM
    • Accreditation
    • Molecular diagnosis of spastic paraplegia (genes: ACP33, BSCL2, CYP7B1, HSPD1, KIAA0196, KIF5A, L1CAM, NIPA1, REEP1, SPAST, SPG3a, SPG7, SPG11(KIAA1840), SPG20, PLP1, ZFYVE26)
    • Diagenom GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of Familial dominant spastic paraplegia, SPG3A, SPG4, SPG42, SPG10, SPG31, SPG8, SPG17, SPG6, SPG13 (ALT1, SPAST, SLC33A1, KIF5A, REEP1, KIAA0196, BSCL2, NIPA1 and HSPD1 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 Spastic Paraplegia type 31 (REEP1 gene)
    • AZM - Academisch Ziekenhuis Maastricht
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Limburg
    • MAASTRICHT
    • Accreditation
    • Molecular diagnosis of Autosomal dominant Spastic Paraplegia type 31 (SPG31; REEP1 gene: DNA sequencing of entire coding region)
    • Sheffield Children's NHS Foundation Trust
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Molecular diagnosis of spastic paraplegia type 2, 3, 4, 7, 10, 11, 15, 17, 20, 30, 31, 35, 55, 66 (ARSI, ATL1, BSCL2, C12ORF65, FA2H, GJC2, KIF1A, KIF5A, PLP1, REEP1, SPAST, SPG7, SPG11, SPG20, ZFYVE26 genes: sequencing)
    • CeGaT GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of familial spastic paraplegia SPG3A, SPG4 and SPG31 (ATL1, REEP1, SPAST genes)
    • Institut für Humangenetik am Universitätsklinikum Jena
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Thüringen
    • JENA
    • Accreditation
    • Molecular diagnosis of spastic paraplegia type 3, 4, 6- 8, 10, 11, 12, 15, 17, 20, 21, 31, 33, 35, 39, 42, 44 (ATL1, BSCL2, FA2H, GJC2, KIAA0196, KIF5A, NIPA1, PNPLA6, REEP1, RTN2, SLC33A1, SPAST, SPG7, SPG11, SPG20, SPG21, ZFYVE26 genes)
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of spastic paraplegia (ACP33, BSCL2, CYP7B1, HSPD1, KIAA0196, KIF5A, L1CAM, NIPA1, REEP1, SLC33A1, SPAST, SPG3a, SPG7, SPG11, SPG20, PLP1, ZFYVE26 genes)
    • MVZ Fenner & Krasemann
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular Diagnosis of Autosomal Dominant Hereditary Spastic Paraplegia (15 genes)
    • The Hospital for Sick Children and University of Toronto
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : NGS sequencing (except WES), MLPA based techniques, Array based techniques
    • More information
    • CANADA
    • Ontario
    • TORONTO
    • Accreditation
    • Molecular diagnosis of autosomal dominant spastic paraplegia (ATL1, BSCL2, HSPD1, KIAA0196, KIF5A, NIPA1, REEP1, SLC33A1, SPAST genes / sequence analysis entire coding region)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Molecular diagnosis of spastic paraplegia (SPAST, SPG3A, REEP1 and SPG7 genes)
    • Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • TOSCANA
    • PISA
    • Molecular diagnosis of familial spastic paraplegia (ATL1, PLP1, SPAST, SPG7, SPG11 and REEP1 genes)
    • Praxis Dres. Gencik
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • Molecular diagnosis of autosomal dominant spastic paraplegia, types 3, 4, 6 and 31 (ATL1 gene / sequence of exons 2-13; NIPA1 and REEP1 genes / mutations; SPAST gene / sequence of exons 1-17)
    • Hospital Universitario Central de Asturias
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Asturias
    • OVIEDO
    • Molecular diagnosis of autosomal dominant spastic paraplegia, type 31 (REEP1 gene)
    • Oslo University Hospital, Ullevaal
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NORWAY
    • Østlandet
    • OSLO
    • Molecular diagnosis of autosomal dominant spastic paraplegia type 31 (REEP1 gene)
    • CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
    • 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
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of autosomal dominant spastic paraplegia type 31. SPG31 gene
    • IDIBELL - Instituto de Investigación Biomédica de Bellvitge
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Molecular diagnosis of familial spastic paraplegia type 3, 4, 5A, 6, 7, 8, 10, 11, 15, 17, 20 and 31 (ATL1, BSCL2, CYP7B1, KIAA0196, KIF5A, NIPA1, REEP1, SPAST, SPG7, SPG11, SPG20, ZFYVE26 genes: sequencing)
    • 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 spastic paraplegia (SPG2, 3, 4, and 7, and REEP1 genes)
    • Medizinische Universität Wien
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of spastic paraplegia 1, 3A, 4, 5A, 10, 11, 15, 17, 20, 21, 28, 30, 31, 39, 42, 44, 48, 56 (L1CAM, KIF5A, SPG11, ZFYVE26, BSCL2, SPG20, SPG21, KIF1A, REEP1, PNPLA6, DDHD1, ATL1, SPAST, SLC33A1, AP5Z1, GJC2, CYP7B1, CYP2U1 genes: Sequencing of the entire coding region for all genes and deletion/duplication by MLPA for ATL1 and SPAST genes)
    • 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 autosomal dominant spastic paraplegia type 31 (REEP1 gene)
    • Genetaq
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of Familial spastic paraplegia 7 (SPG7 gene)
    • University of Antwerp - UA
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • BELGIUM
    • ANTWERPEN
    • ANTWERPEN
    • Molecular diagnosis of familial spastic paraplegia (SPAST, ATL1, SPG7, REEP1, BSCL2, CYP7B1 genes)
    • Fondazione IRCCS Istituto Neurologico "Carlo Besta"
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Molecular diagnosis of familial spastic paraplegia (SPAST, ATL1, SPG7 genes)
    • CNR
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • CALABRIA
    • MANGONE
    • Molecular diagnosis of familial spastic paraplegia SPG3, SPG4, SPG5, SPG7, SPG11, SPG15 and SPG31 (ATL1, BSCL2, CYP7B1, REEP1, SPAST, SPG7, SPG11, ZFYVE26 genes)
    • Hertie-Institut für klinische Hirnforschung (HIH)
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Postnatal molecular diagnosis of autosomal dominant spastic paraplegia type 31 (sequence analysis of the entire coding region of REEP1 gene)
    • 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 autosomal dominant pure spastic paraplegia (entire coding sequence of SPAST, ATL1 , REEP1, KIF5A, NIPA1, KIAA0196 and HSPD1 genes / deletions in SPAST and ATL1 genes by MLPA analysis)
    • Laboratorio de Genética Clínica, S.L.
    • 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
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of autosomal dominant spastic paraplegia type 31 (REEP1 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