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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Molecular diagnosis of autosomal dominant Charcot-Marie-Tooth disease (PMP22, MPZ, LITAF, MFN2, GDAP1 and NEFL genes)
GHU Paris-Sud - Hôpital de Bicêtre
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

AUSTRIA

TIROL
INNSBRUCK

Accreditation
Molecular diagnosis of Charcot-Marie -Tooth syndrome (PMP22,MPZ genes)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

TOSCANA
FIRENZE

Accreditation
Antenatal and postnatal molecular diagnosis of Charcot-Marie-Tooth disease (GARS, GDAP1, LITAF, MFN2, MPZ, NEFL, PMP22, GJB1 genes)
Azienda Ospedaliero Universitaria Careggi
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
Technical procedure(s) : Sanger sequencing, MLPA based techniques

AUSTRIA

STEIERMARK
GRAZ

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

NETHERLANDS

Noord-Holland
AMSTERDAM

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 2A2, B1, E, H, I, J, K (GDAP1, LMNA, MFN2, MPZ and NEFL genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation
Molecular diagnosis of autosomal dominant Charcot-Marie-Tooth disease type 2A2, B, D, F, H, I, K, J, L, X, Y (GARS, GDAP1, HSPB1, HSPB8, MFN2, MPZ, NEFL, RAB7A, SPG11, VCP 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

GERMANY

Bayern
NEU-ULM

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 2A2, H, I, J, K (GDAP1, MFN2 and MPZ genes)
Paxis und Labor Dr. med Karl Mehnert
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 2A2, B, B1, B2, C, D, E, F, H, I, J, K, L, M, N, O, P, U (AARS, DNM2, DYNC1H1, GARS, GDAP1, HSPB1, HSPB8, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ, NEFL, RAB7A, TRPV4 genes)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

GERMANY

Sachsen
DRESDEN

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 2A2, E, I, J (NEFL, MFN2, MPZ genes)
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 2A2, B1, C, E, H, I, J, K (GDAP1, LMNA, NEFL, MFN2, MPZ, TRPV4 genes: sequencing, MLPA)
Zentrum für Humangenetik Mannheim
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

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 2A1, A2, B, B1, D, E, F, H, I, J, K, N (AARS, GARS, GDAP1, HSPB1, KIF1B, LMNA, MFN2, MPZ, NEFL, RAB7A genes)
Centogene AG
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 Charcot-Marie-Tooth disease type 2A1, A2, B, B1, D, E, F, H, I, J, K, L (GARS, GDAP1, HSPB1, HSPB8, KIF1B, LMNA, MFN2, MPZ, NEFL, RAB7A genes)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FINLAND

Finland
TURKU

Accreditation
Molecular diagnosis of Autosomal dominant Charcot-Marie-Tooth disease, type 2I and 2J (MPZ gene)
Turku University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 2A1, A2, C, H-K, Q (DHTKD1, GDAP1, KIF5A, KIF1B, MFN2, MPZ, TRPV4 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SWITZERLAND

Suisse Alémanique
BERN

Accreditation
Diagnosis of Charcot-Marie-Tooth disease type 1B, 2I and 2J (MPZ gene)
Inselspital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease, type 2I (MPZ gene)
Genetica AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 2A2, B1, E, I, J (LMNA, MFN2, MPZ and NEFL genes: 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

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 2A1, A2, B1, B2, D, F, H-O (AARS, DNM2, DYNC1H1, GARS, GDAP1, HSPB1, HSPB8, KIF1B, LMNA, MFN2, MPZ 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

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 2A2, F, H, I, J, K (GDAP1, HSPB1, MFN2, MPZ genes: sequencing)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 2A1, A2, B, B1, D, E, F, H, I, J, K, L, N (AARS, GARS, GDAP1, HSPB1, HSPB8, KIF1B, LMNA, MFN2, MPZ, NEFL, RAB7A 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

AUSTRIA

TIROL
INNSBRUCK

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth Disease (PMP22, MPZ, GJB1, MFN2, NEFL, PRX, HSPB and LMNA gene)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

TOSCANA
FIRENZE

Accreditation
Molecular diagnosis of hereditary neuropathies (APOA1, F8, GARS, GDAP1, GJB1, GLA, LITAF, MFN2, MPZ, NEFL, PMP22, TTR genes)
Azienda Ospedaliero Universitaria Careggi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of autosomal dominant Charcot-Marie-Tooth disease type 2A2, I, J (MFN2, MPZ genes)
Zweigniederlassung der synlab MVZ Augsburg GmbH
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 Charcot-Marie-Tooth disease type 2A1, 2A2, B, B1, B2, C, D, E, F, H, I, J, K, L, M, N, S (AARS, DNM2, DYNC1H1, GARS, GDAP1, HSPB1, HSPB8, IGHMBP2, KIF1B, LMNA, MED25, MFN2, MPZ, NEFL, RAB7A, TRPV4 genes)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FRANCE

LIMOUSIN
LIMOGES

Accreditation
Diagnosis of Charcot-Marie-Tooth disease and differential diagnostic neuropathies: dHMN and dHSN (Panel)
CHU de Limoges - Hôpital Dupuytren
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of Charcot-Marie-Tooth disease (Panel)
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of peripheral neuropathies (Panel)
GHU Paris-Sud - Hôpital de Bicêtre
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), Sanger sequencing, PCR based techniques, MLPA based techniques

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of autosomal dominant Charcot-Marie-Tooth disease type 2A2, I, J (MFN2, MPZ genes)
Labor Lademannbogen
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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of genetic peripheric neuropathy (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

GERMANY

Bayern
BAD STEBEN

Accreditation
Molecular diagnosis of autosomal dominant Charcot-Marie-Tooth disease type 2I, J (MPZ gene)
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SWEDEN

Västra Götalandsregionen
GÖTEBORG

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 2I (MPZ gene sequencing)
Sahlgrenska Universitessjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

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)

CANADA

Ontario
LONDON

Accreditation
Molecular Diagnosis of Charcot Marie Tooth - Comprehensive NGS Panel (17 genes)
London Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES)

ITALY

TOSCANA
PISA

Postnatal molecular and cytogenetic diagnosis of Charcot-Marie-Tooth disease (PMP22, MPZ, GJB1, LITAF, NEFL, EGR2 genes)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
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

ITALY

LIGURIA
GENOVA

Molecular diagnosis of Charcot-Marie-Tooth disease (PMP22, MPZ, LITAF, MFN2, GDAP1, GJB1, HSPB1, HSPB8, EGR2, FIG4, KIAA1985 genes)
IRCCS AOU San Martino - IST - DIMI
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Galicia
SANTIAGO DE COMPOSTELA

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

SPAIN

Aragón
ZARAGOZA

AUSTRIA

WIEN
WIEN

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

BELGIUM

ANTWERPEN
ANTWERPEN

Molecular diagnosis of Charcot-Marie-Tooth disease type 2 (GJB1, MPZ, MFN2, GDAP1 gene)
University of Antwerp - UA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
MÁLAGA

Diagnosis of Charcot-Marie-Tooth disease, types 2I and 2J (MPZ gene)
Genetaq
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Sachsen-Anhalt
MAGDEBURG

Molecular diagnosis of autosomal dominant Charcot-Marie-Tooth disease type 2I, J (MPZ gene)
Universitätsklinikum Magdeburg A.ö.R
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of Charcot-Marie-Tooth disease type 2A2, B1, C, H, I, J, K (GDAP1, LMNA, MFN2, MPZ, TRPV4 genes)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
BONN

Molecular diagnosis of autosomal dominant Charcot-Marie-Tooth disease type 2A2, I, J (MFN2, MPZ genes)
Universitätsklinikum Bonn
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Hamburg
HAMBURG

Molecular diagnosis of autosomal dominant Charcot-Marie-Tooth disease type 2I, J (MPZ gene)
Pränatalzentrum Hamburg und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of Charcot-Marie-Tooth disease related to MPZ gene
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
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

GERMANY

Bayern
ERLANGEN

Molecular diagnosis of autosomal dominant Charcot-Marie-Tooth disease type 2I, J (MPZ gene)
Humangenetisches Institut am Universitätsklinikum Erlangen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Andalucía
ARMILLA

Molecular diagnosis of autosomal dominant Charcot-Marie-Tooth disease types 1B, 2I and 2J (deletions-duplications of MPZ gene)
Lorgen G.P.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

PORTUGAL

SUL
LISBOA

Molecular diagnosis of Charcot-Marie-Tooth disease (PMP22, GJB1 and MPZ 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

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of autosomal dominant Charcot-Marie-Tooth disease type 2A2, B, B1, C, D, E, F, H, I, J, K, L, M, N, Y (AARS, DNM2, GARS, GDAP1, HSPB1, HSPB8, LMNA, MFN2, MPZ, NEFL, RAB7A, TRPV4, 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

La Rioja
LOGROÑO

Diagnosis of Charcot-Marie-Tooth disease (gene panel)
CIBIR - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of Charcot-Marie-Tooth disease types 1B, 2I and 2J (MPZ gene / sequencing)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
PADOVA

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

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of autosomal dominant Charcot-Marie-Tooth disease (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)

HUNGARY

Közép-Magyarország
BUDAPEST

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, Semmelweis 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

FRANCE

PAYS DE LA LOIRE
ANGERS

Diagnosis of Charcot-Marie-Tooth disease (Panel)
CHU d'Angers
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) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

FRANCE

RHONE-ALPES
BRON

Diagnosis of Charcot-Marie-Tooth disease (Panel)
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) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of Charcot-Marie-Tooth disease (Panel)
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of autosomal dominant Charcot-Marie-Tooth disease type 2A2, I, J (MFN2, MPZ genes)
Klinikum Stuttgart - Standort Olgahospital
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

SPAIN

Madrid
MADRID

Diagnosis of Charcot-Marie-Tooth and related hereditary neuropathies (panel)
NIMGenetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

ITALY

LOMBARDIA
MILANO

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

ITALY

CALABRIA
MANGONE

Molecular diagnosis of Charcot-Marie-Tooth disease (PMP22, MPZ, GJB1, GDAP1, MFN2, NEFL, EGR2, MTMR2, SBF2 genes)
CNR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
PADOVA

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

ITALY

LAZIO
ROMA

Molecular diagnosis of Charcot-Marie-Tooth disease (dup 17, PMP22 e MPZ)
Policlinico Universitario "A. Gemelli"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics

CYPRUS

Cyprus
NICOSIA

Molecular diagnosis of Charcot-Marie-Tooth disease (PMP22, MPZ and GJB1 genes)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Diagnosis of Charcot-Marie-Tooth disease by neuro-muscular biopsy
CHU Henri Mondor
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Molecular diagnosis of Charcot-Marie-Tooth disease type 2A1, A2, B1, D, H, I, J, K (GARS, GDAP1, KIF1B, LMNA, MFN2, MPZ genes)
Albrecht-Kossel-Institute for Neuroregeneration (AKos)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of autosomal dominant Charcot-Marie-Tooth disease type 2 (KIF1B, MFN2, RAB7A, GARS, NEFL, HSPB1, MPZ, GDAP1, HSPB8 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
Technical procedure(s) : Sanger sequencing

SPAIN

Cataluña
BADALONA

Molecular diagnosis of autosomal dominant Charcot-Marie-Tooth disease type 2I (MPZ gene)
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

MOLISE
POZZILLI

Molecular diagnosis of Charcot-Marie-Tooth disease (PMP22, MPZ, GJB1, GARS, HSP27, BSCL2 genes)
Istituto Neurologico Mediterraneo - IRCCS Neuromed
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnostic of autosomal dominant Charcot-Marie-Tooth disease type 2I (MPZ gene)
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, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing, PCR based techniques