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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

ILE-DE-FRANCE
LE KREMLIN-BICĘTRE

Accreditation
Molecular diagnosis of autosomal dominant Charcot-Marie-Tooth disease (PMP22, MPZ, LITAF, MFN2, GDAP1 and NEFL genes)
GHU Paris-Sud - Hôpital de Bicętre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluńa
BARCELONA

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 1 (PMP22 gene)
Laboratorio de Análisis Dr. Echevarne
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Romande
GENČVE

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease, type 1A (PMP22 gene)
Hôpitaux Universitaires de Genčve HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 1A-F (EGR2, LITAF, MPZ, NEFL, PMP22 genes: microsatellite markers, qPCR, MLPA, sequencing)
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

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Molecular cytogenetics diagnosis (FISH) of Charcot-Marie-Tooth disease type 1A (PMP22 - 17p12 duplication)
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

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 1A, B, C, D and F (PMP22, MPZ, LITAF, EGR2 and NEFL gene)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease Type 1A (PMP22 gene: Targetted mutation analysis / Testing for known mutations in family members)
Newcastle upon Tyne Hospitals NHS Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease - HMSN (MPZ, Connexin32, MFN2, PMP22-duplication and sequencing)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 1A-F (EGR2, LITAF, MPZ, NEFL, PMP22 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

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 1A-F (EGR2, LITAF, MPZ, NEFL, PMP22 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 1A-F (EGR2, LITAF, MPZ, NEFL, PMP22 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

Nordrhein-Westfalen
AACHEN

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 1A-F (EGR2, LITAF, MPZ, NEFL, PMP22 genes)
Universitätsklinikum Aachen
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) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 1A-F (EGR2, LITAF, MPZ, NEFL, PMP22 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
MÜNCHEN

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 1A-F (EGR2, LITAF, MPZ, NEFL, PMP22 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 1A-F (EGR2, LITAF, MPZ, NEFL, PMP22 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

UNITED KINGDOM

Avon
BRISTOL

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 1F (NEFL gene)
Southmead Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 1A-F (EGR2, LITAF, MPZ, NEFL, PMP22 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: CMT1A, CMT1B, CMT1C, CMT1D, CMT1E, CMT1F and CMTX1 (PMP22, MPZ, LITAF, EGR2, NEFL, GJB1 genes)
Instituto de Biologia Molecular e Celular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 1A-F (EGR2, LITAF, MPZ, NEFL, PMP22 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

SPAIN

Cataluńa
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 1F (NEFL gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 1A-F (EGR2, LITAF, MPZ, NEFL, PMP22 genes)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 1A, B, E, F (MPZ, NEFL and PMP22 genes)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
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) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICĘTRE

Accreditation
Diagnosis of peripheral neuropathies (Panel)
GHU Paris-Sud - Hôpital de Bicętre
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)

SPAIN

Cataluńa
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
Technical procedure(s) : NGS sequencing (except WES), PCR based techniques

UNITED KINGDOM

Nottinghamshire
NOTTINGHAM

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease (CMT1A) by MLPA analysis (gene PMP22)
Nottingham City Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : MLPA based techniques

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)

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

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

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

ITALY

LAZIO
ROMA

Molecular cytogenetics and molecular diagnosis of Charcot-Marie-Tooth syndrome (GJB1 gene)
Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of Charcot-Marie-Tooth disease (type 1, 2A2, 2B1) (EGR2, MPZ, PMP22, LMNA, MFN2 genes)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

PIEMONTE
TORINO

Molecular diagnosis of Charcot-Marie-Tooth disease type 1A, 1B, 2 and X-linked (PMP22, MPZ, GJB1, MFN2, GDAP1 genes)
A.O. Cittŕ della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Alémanique
BASEL

Molecular diagnosis of Charcot-Marie-Tooth disease type 1A (PMP22 gene)
Universitätsspital Basel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Molecular diagnosis of Charcot-Marie-Tooth disease : screening for duplication in 17p11.2-p12 including PMP22 gene + complete sequencing of PMP22 gene
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of Charcot-Marie-Tooth disease type 1A-F (EGR2, LITAF, MPZ, NEFL, PMP22 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

SPAIN

Aragón
ZARAGOZA

Diagnosis of Charcot-Marie-Tooth disease type 1 (PMP22 gene)
Hospital Universitario Miguel Servet
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques

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

TURKEY

TURKEY
ISTANBUL

Molecular diagnosis of Charcot-Marie-Tooth disease type 1A and 1E (PMP22 gene)
Acibadem healthcare group
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of Charcot-Marie-Tooth type 1 disease (PMP22 and MPZ genes)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of Charcot-Marie-Tooth disease type 1F (NEFL gene / complete sequencing)
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 Charcot-Marie-Tooth disease type 1A-F (EGR2, MPZ, PMP22, NEFL genes: sequencing / MLPA; LITAF gene: sequencing)
Gemeinschaftspraxis für 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

SPAIN

La Rioja
LOGROŃO

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)

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of Charcot-Marie-Tooth disease types 1F and 2E (NEFL gene / sequencing, MLPA)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : MLPA based techniques

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

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 Salpętričre-Charles Foix - Hôpital Pitié-Salpętričre
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)

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of Charcot-Marie-Tooth disease type 1 (EGR2, LITAF, MPZ, NEFL and PMP22 genes)
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)

GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of Charcot-Marie-Tooth disease type 1A-D (EGR2, LITAF, MPZ, PMP22 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

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

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

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Charcot-Marie-Tooth disease type 1 (MPZ, LITAF, EGR2, PMP22, NEFL, GJB1 genes; NEFL gene / duplication CMT1A (17p11.2))
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

Comunidad Valenciana
VALENCIA

Diagnosis of Charcot-Marie-Tooth disease type 1F (NEFL gene)
Centro de Investigación Príncipe Felipe (CIPF)
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing, PCR based techniques