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GERMANY

Baden-Württemberg
ULM

Accreditation
Molecular diagnosis of frontotemporal lobe dementia (C9ORF72, MAPT and GRN genes)
Universitätsklinikum Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Frontotemporal Dementia (MAPT, GRN, CHMP2B, PRKAR1B and C9ORF72 gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing, PCR based techniques

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of frontotemporal lobe dementia (C9ORF72, MAPT and GRN 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

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Accreditation
Molecular diagnosis of GRN-related Frontotemporal Dementia (Progranulin (PGRN): sequencing and dosage analysis)
Addenbrooke's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of frontotemporal lobe dementia (GRN, MAPT, TARDBP genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Frontotemporal Dementia (MAPT, PGRN, PSEN1, CHMP2B and C9ORF72 gene)
VUmc - VU medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of frontotemporal dementia (CHCHD10, CHMP2B, C9ORF72, GRN, MAPT, TARDBP, TBK1, PSEN1, TMEM106B, VCP genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of frontotemporal lobe dementia (MAPT and GRN genes: sequencing/ MLPA)
Diagenom 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

PORTUGAL

NORTE
PORTO

Accreditation
Molecular diagnosis of frontotemporal dementia (C9ORF72, MAPT, PGRN and VCP genes)
Instituto de Biologia Molecular e Celular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Asturias
OVIEDO

Accreditation
Diagnosis of frontotemporal dementia (GRN, MAPT genes)
Hospital Universitario Central de Asturias
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Molecular diagnosis of frontotemporal lobe dementia (genes: MAPT and GRN: sequencing, MLPA)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
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

GERMANY

Bayern
REGENSBURG

Accreditation
Molecular diagnosis of frontotemporal lobe dementia (MAPT gene: sequencing, MLPA)
Universitätsklinikum Regensburg
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

GERMANY

Sachsen
DRESDEN

Accreditation
Molecular diagnosis of frontotemporal lobe dementia (CHMP2B, GRN, MAPT genes: sequencing, MLPA)
Mitteldeutscher Praxisverbund 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

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of frontotemporal lobe dementia (GRN, MAPT, PSEN1, TARDBP 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

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Frontotemporal Dementia (MAPT and GRN gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
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

UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation
Molecular diagnosis of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia (ALS and FTD, C9ORF72 gene: Molecular diagnosis through gene expansion analysis)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : PCR based techniques

PORTUGAL

NORTE
PORTO

Accreditation
Molecular diagnosis of Dementia (NGS panel for MAPT, PGRN, VCP, PRNP, SCNA, SNCB, CHMP2B, FUS, TARDBP, PSEN1, PSEN2, APOE, APP genes: Sequencing of the entire coding region)
Instituto de Biologia Molecular e Celular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of behavioral variant of frontotemporal dementia (MAPT, PGRN, CHMP2B genes)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of frontotemporal lobe dementia (MAPT and GRN genes)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of frontotemporal degeneration with dementia (CHMP2B, GRN, MAPT, PSEN1, TARDBP genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, 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

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Dementia (gene panel)
VUmc - VU medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Whole Exome Sequencing (WES)

BELGIUM

ANTWERPEN
ANTWERPEN

Molecular diagnosis of Frontotemporal dementia (CHMP2B, GRN, MAPT, VCP genes, C9ORF72 repeat)
University of Antwerp - UA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

SUL
LISBOA

Molecular diagnosis of frontotemporal dementia (MAPT, PGRN, VCP and CHMP2B genes): sequencing of the entire coding region.
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

ITALY

PIEMONTE
TORINO

Molecular diagnosis of frontotemporal dementia
A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Molecular diagnosis of frontotemporal dementia (MAPT, GRN genes)
CHUS - Complejo Hospitalario Universitario de Santiago
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MONZA

Molecular diagnosis of frontotemporal dementia (TAU gene)
Consorzio per la Genetica Molecolare Umana
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
COSTOZZA DI LONGARE

Molecular diagnosis of fronto-temporal dementia and parkinsonism linked to chromosome 17 (MAPT gene)
B.I.R.D. Foundation
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MONZA

Molecular diagnosis of frontotemporal dementia (PGRN gene)
Consorzio per la Genetica Molecolare Umana
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of frontotemporal lobe dementia (MAPT gene: sequencing exon 1, 9-13)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SWITZERLAND

Suisse Alémanique
REINACH

Molecular diagnosis of frontotemporal dementia (Gene MAPT)
Diagene Laboratories Inc.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
ARMILLA

Molecular diagnosis of frontotemporal dementia (deletions in MAPT gene by MLPA analysis and entire coding sequence)
Lorgen G.P.
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

SPAIN

Andalucía
ARMILLA

Molecular diagnosis of Pick disease of brain (entire coding sequence of MAPT gene)
Lorgen G.P.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of frontotemporal dementia and parkinsonism linked to chromosome 17 (MAPT gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
BARCELONA

Molecular diagnosis of frontotemporal dementia (MAPT and GRN genes)
Centro de Diagnóstico Biomédico - CDB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of frontotemporal dementia (GRN, MAPT genes / MLPA and 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)

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of frontotemporal lobe dementia (CHMP2B, GRN, MAPT, TARDBP, VCP genes
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of frontotemporal dementia (MAPT, GRN genes)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of frontotemporal dementia (MAPT and GRL genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of frontotemporal dementia (MAPT, PSEN1 genes)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of frontotemporal dementia (MAPT, PGRN, VCP genes: sequencing of the entire coding region for all genes and deletion/duplication analysis by MLPA for MAPT and PGRN 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

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of frontotemporal dementia (MAPT, GRN genes / sequencing, MLPA)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : MLPA based techniques

SPAIN

Castilla - León
SALAMANCA

Molecular diagnosis of susceptibility to frontotemporal dementia (MAPT gene / sequencing)
Universidad de Salamanca. Facultad de Medicina
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics

SPAIN

Castilla - León
SALAMANCA

Molecular diagnosis of susceptibility to progressive non-fluent aphasia (GRN gene / sequencing)
Universidad de Salamanca. Facultad de Medicina
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of frontotemporal dementia (C9ORF72 gene: expansion detetion by RT-PCR)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : PCR based techniques

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of progressive non-fluent aphasia (GRN gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

HUNGARY

Közép-Magyarország
BUDAPEST

Molecular diagnosis of early onset and hereditary dementia (APP, PS1, PS2, TAU and GRN genes)
Institute of Genomic Medicine and Rare Disorders, Semmelweis 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

FRANCE

ALSACE
STRASBOURG

Diagnosis of intellectual disability (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)

FRANCE

ALSACE
STRASBOURG

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)

FRANCE

PAYS DE LA LOIRE
ANGERS

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)

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of frontotemporal dementia (Panel)
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
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)

ITALY

CALABRIA
MANGONE

Molecular diagnosis of frontotemporal lobe dementia (MAPT and PGRN genes)
CNR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

SICILIA
TROINA

Molecular diagnosis of frontotemporal lobe dementia (PSEN1 gene)
IRCCS OASI Maria Santissima
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

TOSCANA
FIRENZE

Molecular diagnosis of frontotemporal lobe dementia (Tau and Granulin genes)
Azienda Ospedaliero Universitaria Careggi - NEUROFARBA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of frontotemporal dementia (GRN gene)
Instituto de Investigación Sanitaria Biodonostia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

ISRAEL

ISRAEL
JERUSALEM

Molecular diagnosis of Frontotemporal dementia with parkinsonism (FTDP-17) (Tau protein, Mutation analysis)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

LANGUEDOC-ROUSSILLON
MONTPELLIER

Biochemical diagnosis of dementia: measurements of markers present in the cerebro-spinal fluid (Tau proteins and beta A peptides)
Institut de Recherches en Biothérapie (IRB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

RHONE-ALPES
BRON

Biochemical diagnosis of Alzheimer and related diseases: analysis of Tau, beta amyloid proteins and progranulin (1-40 & 1-42 beta amyloid) in CSF
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Bayern
MÜNCHEN

Molecular diagnosis of frontotemporal lobe dementia (MAPT gene, on request)
LMU Klinikum der Universität München - Campus Großhadern
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Molecular diagnosis of frontotemporal lobe dementia (MAPT and GRN genes)
Hertie-Institut für klinische Hirnforschung (HIH)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Cataluña
BADALONA

Molecular diagnosis of frontotemporal dementia. GRN, MAPT and TARDBP genes
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of frontotemporal dementia (MAPT, CHMP2B, GRN, TARDBP, PSEN1, C9ORF72 genes)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic 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

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Molecular diagnosis of Pick disease of brain (entire coding sequence of MAPT gene)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

AUSTRIA

WIEN
WIEN

Molecular diagnosis of frontotemporal dementia (MAPT, FUS, TARDBP, and GRN genes)
Allgemeines Krankenhaus der Stadt Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

ITALY

PIEMONTE
TORINO

Molecular diagnosis of frontotemporal lobe dementia (MAPT and GRN genes)
Ospedale Molinette
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of Behavioral variant of frontotemporal dementia (sequencing analysis of PSEN1 gene and exons 9, 10, 11 of MAPT gene)
University Hospital Bratislava - Stare mesto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

LANGUEDOC-ROUSSILLON
NÎMES

Molecular diagnosis of frontotemporal dementia (C9ORF72, VCP genes)
CHU de Nîmes - Hôpital Caremeau
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing, PCR based techniques

SPAIN

Madrid
TRES CANTOS

Molecular diagnosis of susceptibility to frontotemporal dementia (C9ORF72, MAPT, GRN, TARDBP, FUS, VCP genes)
Centro de estudios genéticos ATG Medical
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics

FRANCE

CENTRE
TOURS

Diagnosis of amyotrophic lateral sclerosis (Panel)
CHRU de Tours - Hôpital Bretonneau
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)

ITALY

MOLISE
POZZILLI

Molecular diagnosis of semantic dementia (C9ORF72, GRN, MAPT and PSEN1 genes)
Istituto Neurologico Mediterraneo - IRCCS Neuromed
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, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES)