x

Search for a diagnostic test

* (*) mandatory field

56 Result(s)

Filter by

Speciality(ies)/Service(s)

Purpose(s)

Quality management

Country(ies)

Reset
Sort by

                                                                  Laboratory officially designated for this diagnostic test =Laboratory officially designated for this diagnostic test
           Accreditation =Accreditation
;

GERMANY

Niedersachsen
GÖTTINGEN

Diagnosis of hereditary spastic paraplegia (NGS screening panel: 84 genes)
Institut für Humangenetik der Universität Göttingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), mlpa based techniques

GERMANY

Baden-Württemberg
TÜBINGEN

Diagnosis of familial spastic paraplegia (ATL1, BSCL2, CYP7B1, FA2H, HSPD1, KIF5A, L1CAM, NIPA1, PLP1, PNPLA6, REEP1, SACS, SPART, SPAST, SPG11, SPG21, SPG7, WASHC5, ZFYVE26 genes)
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

SPAIN

Asturias
OVIEDO

Diagnosis of autosomal dominant spastic paraplegia types 3, 4, 6 and 31 (ATL1, NIPA1, REEP1, SPAST genes)
Hospital Universitario Central de Asturias
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, mlpa based techniques

NETHERLANDS

Gelderland
NIJMEGEN

Diagnosis of Autosomal Dominant Spastic Paraplegia type 3A, 4, 6, 8, 10, 12, 13, 17, 30, 31 and 42 (ATL1, SPAST, NIPA1, WASHC5, KIF5A, RTN2, HSPD1, BSCL2, KIF1A, REEP1 and SLC33A1 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis sanger sequencing, mlpa based techniques

GERMANY

Bayern
REGENSBURG

Diagnosis of spastic paraplegia (ATL1, B4GALNT1, CYP7B1, REEP1, SPAST, SPG7, SPG11, SPG14, SPG20, SPG21, ZFYVE26 genes)
Zentrum für Humangenetik Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, mlpa based techniques

BELGIUM

HAINAUT
GOSSELIES

Diagnosis of spastic paraplegia (gene panel)
Institut de Pathologie et de Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

GERMANY

Nordrhein-Westfalen
BOCHUM

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, WASHC5 genes)
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

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
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

GERMANY

Bayern
NEU-ULM

Diagnosis of hereditary spastic paraplegia (NGS screening panel: 90 genes)
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

NETHERLANDS

Limburg
MAASTRICHT

Molecular diagnosis of Spastic Paraplegia type 31 (REEP1 gene)
Maastricht UMC+
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
TÜBINGEN

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)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

GERMANY

Thüringen
JENA

Diagnosis of familial spastic paraplegia SPG3A, SPG4 and SPG31 (ATL1, REEP1, SPAST genes)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

GERMANY

Sachsen
DRESDEN

Diagnosis of spastic paraplegia (NGS screening panel, 18 genes)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, mlpa based techniques

GERMANY

Baden-Württemberg
FREIBURG

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)
SYNLAB MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

GERMANY

Hamburg
HAMBURG

Diagnosis of spastic paraplegia (ACP33, BSCL2, CYP7B1, HSPD1, KIAA0196, KIF5A, L1CAM, NIPA1, REEP1, SLC33A1, SPAST, SPG3a, SPG7, SPG11, SPG20, PLP1, ZFYVE26 genes)
Labor Dr. Fenner & Kollegen MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

GERMANY

Bayern
MÜNCHEN

Diagnosis of hereditary spastic paraplegia (NGS screening panel: 117 genes)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

CANADA

Ontario
TORONTO

Molecular Diagnosis of Hereditary Spastic Paraplegia: Autosomal Dominant NGS Panel (15 genes)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), array based techniques

FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of ataxia, spastic paraplegia and related neurodegenerative diseases (Panel)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons ngs sequencing (except wes)

FRANCE

HAUTS-DE-FRANCE
LILLE

Diagnosis of hereditary spastic paraplegia (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, mlpa based techniques

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Diagnosis of mitochondrial diseases (Panel)
CHU de Nice - Hôpital l'Archet 2
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing, whole exome sequencing (wes)

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of hereditary spastic paraplegia (Panel)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing, mlpa based techniques

GERMANY

Bayern
MÜNCHEN

Diagnosis of familial spastic paraplegia (NGS screening panel, 86 genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

GERMANY

Nordrhein-Westfalen
AACHEN

Diagnosis of hereditary spastic paraplegia (NGS screening panel, 55 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

GERMANY

Nordrhein-Westfalen
AACHEN

Diagnosis of neurogenetic and neuromuscular diseases (NGS panel, 291 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

ESTONIA

Tartu
TARTU

Molecular diagnosis of hereditary spastic paraplegia (panel)
Asper Biogene
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

NETHERLANDS

Utrecht
UTRECHT

Diagnosis of Autosomal Dominant Spastic Paraplegia (gene panel; NEM16v16.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Diagnosis of hereditary spastic paraplegia (panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

GERMANY

Baden-Württemberg
TÜBINGEN

Diagnosis of rare neurodegenerative diseases and movment disorder (NGS screening panel: 392 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Diagnosis of hereditary spastic paraplegia (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

GERMANY

Bayern
WÜRZBURG

Diagnosis of hereditary spastic paraplegia (NGS screening panel, 20 genes)
Universität Würzburg - Biozentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, mlpa based techniques

BELGIUM

OOST-VLAANDEREN
GENT

Diagnosis of ataxia and spastic paraplegia (gene panel)
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Diagnosis of hereditary spastic paraplegia (gene panel)
Hôpital Universitaire de Bruxelles (H.U.B) - Site Hôpital Erasme
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), mlpa based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Diagnosis of hereditary spastic paraplegia (gene panel)
UZ Leuven - Campus Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Diagnosis of hereditary spastic paraplegia (panel)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons ngs sequencing (except wes)

ITALY

TOSCANA
PISA

Diagnosis of spastic paraplegia [panel of genes]
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, mlpa based techniques

GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of familial spastic paraplegia (ATL1, PLP1, SPAST, SPG7, SPG11 and REEP1 genes)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

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 GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

GERMANY

Sachsen
DRESDEN

Diagnosis of familial spastic paraplegia type 3, 4, 5A, 6, 7, 8, 10, 11, 15, 17, 20, 31, 39 (ATL1, BSCL2, CYP7B1, KIAA0196, KIF5A, NIPA1, PNPLA6, REEP1, SPAST, SPG7, SPG11, SPG20, ZFYVE26 genes)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of spastic paraplegia (ATL1, FA2H, GJC2, KIF5A, NIPA1, PLP1, REEP1, SPAST, SPG7, and SPG11 genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

SPAIN

Cataluña
BADALONA

Diagnosis of autosomal dominant spastic paraplegia type 31 (REEP1 gene)
Instituto de Investigación Germans Trias i Pujol
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of autosomal dominant spastic paraplegia type 31 (REEP1 gene)
Health in Code. Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region sanger sequencing, mlpa based techniques

ITALY

MOLISE
POZZILLI

Diagnosis of hereditary spastic paraplegia [panel of genes]
Istituto Neurologico Mediterraneo - IRCCS Neuromed
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region ngs sequencing (except wes)

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of autosomal dominant spastic paraplegia (panel)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

ITALY

VENETO
COSTOZZA DI LONGARE

Diagnosis of hereditary spastic paraplegia [panel of genes]
B.I.R.D. Foundation
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

SPAIN

Madrid
MADRID

Diagnosis of hereditary spastic paraplegia (panel)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

SPAIN

La Rioja
LOGROÑO

Diagnosis of spastic paraplegia (panel)
Hospital San Pedro
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of hereditary spastic paraplegia (panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

SPAIN

Madrid
TRES CANTOS

Diagnosis of hereditary spastic paraplegia (panel)
Centro de estudios genéticos ATG Medical
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

SPAIN

Galicia
A CORUÑA

Diagnosis of hereditary spastic paraplegia (panel - 76 genes)
Health In Code. A Coruña
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons ngs sequencing (except wes)

SPAIN

Galicia
A CORUÑA

Diagnosis of complex hereditary spastic paraplegia (panel - 66 genes)
Health In Code. A Coruña
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons ngs sequencing (except wes)

SPAIN

Galicia
A CORUÑA

Diagnosis of pure hereditary spastic paraplegia (panel - 28 genes)
Health In Code. A Coruña
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons ngs sequencing (except wes)

ITALY

LOMBARDIA
MILANO

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

ITALY

CALABRIA
MANGONE

Molecular diagnosis of familial spastic paraplegia (SPAST, ATL1, SPG7 genes)
CNR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
PADOVA

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
Service(s) : Sequence analysis: entire coding region

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Spastic Paraplegia (ATL1, BSCL2, FARS2, GJC2, L1CAM, PLP1, SLC16A2, SPART, SPAST, SPG7, SPG11, REEP1, VCP, and C19ORF12 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

PORTUGAL

NORTE
PORTO

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)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, mlpa based techniques