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FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

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
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

LIMOUSIN
LIMOGES

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)

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

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

GERMANY

Bayern
MÜNCHEN

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
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 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
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 4A, B1, B2, C, D, E, F (EGR2, GDAP1, MTMR2, NDRG1, PRX, SBF2, SH3TC2 genes)
Diagenom 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 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
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

PORTUGAL

NORTE
PORTO

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

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)
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) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

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) : Mutation scanning/screening and sequence analysis of selected exons
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) : 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)

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)

FRANCE

PAYS DE LA LOIRE
ANGERS

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

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

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

FRANCE

RHONE-ALPES
BRON

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

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of Charcot-Marie-Tooth disease type 4D (NRDG1 gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

SPAIN

La Rioja
LOGROÑO

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)

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

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

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of Charcot-Marie-Tooth disease type 4 (panel)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
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

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) : 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

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

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

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

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Diagnosis of hereditary motor and sensory neuropathy type Lom by neuro-muscular biopsy
CHU Henri Mondor
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

CZECH REPUBLIC

Capital City Prague
PRAHA

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

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Charcot-Marie-Tooth disease type 4 (GDAP1, MTMR2, SBF2, SH3TC2, NDRG1, EGR2, PRX, FGD4, FIG4 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 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

SPAIN

Comunidad Valenciana
VALENCIA

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, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing, PCR based techniques