x

Search for a diagnostic test

* (*) mandatory field

33 Result(s)

Filter by

Speciality(ies)/objective(s)

Technique(s)

Purpose(s)

Quality management

Country(ies)

Reset
Sort by

Caption : Accreditation =Accreditation
;

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Molecular diagnosis of spinal muscular atrophy with respiratory distress (IGHMBP2 gene)
Universitätsklinikum Aachen
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

ILE-DE-FRANCE
PARIS

Accreditation
Molecular genetics diagnosis of spinal muscular atrophy with respiratory distress (IGHMBP2 gene)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Groningen
GRONINGEN

Accreditation
Molecular diagnosis of Spinal Muscular Atrophy with Diaphragm Paralysis (IGHMBP2 gene)
UMCG - Universitair Medisch Centrum Groningen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of spinal muscular atrophy with respiratory distress (IGHMBP2 gene)
Zentrum für Humangenetik Mannheim
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 distal hereditary motor neuropathy type 2A, 2B, 5, 6 and 7B (DCTN1, GARS, HSPB1, HSPB8 and IGHMBP2 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

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of autosomal recessive distal hereditary motor neuropathy type 1 and 4 (IGHMBP2, PLEKHG5 genes: sequencing)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Molecular diagnosis of distal spinal muscular atrophy type 1 -DSMA1/SMARD (IGHMBP2 gene)
Institut de Pathologie et de Génétique - Gosselies
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Molecular diagnosis of spinal muscular atrophy with respiratory distress (IGHMBP2 gene)
Institut de Pathologie et de Génétique - Gosselies
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of spinal muscular atrophy with respiratory distress (IGHMBP2 gene)
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, MLPA based techniques, Whole Exome Sequencing (WES)

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of autosomal recessive distal hereditary motor neuronopathy type 1 and 4 (IGHMBP2, PLEKHG5 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

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of autosomal recessive distal hereditary motor neuropathy type 1 and 4 (IGHMBP2, PLEKHG5 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

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of early-onset myopathy, areflexia, respiratory distress, and dysphagia (MEGF10 gene)
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)

SPAIN

Cataluńa
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of spinal muscular atrophy with respiratory distress type 1 (IGHMBP2 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Accreditation
Molecular diagnosis of spinal muscular atrophy with respiratory distress type 1 (IGHMBP2 gene)
Azienda Ospedaliera Universitaria Policlinico di Tor Vergata
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) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

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

ILE-DE-FRANCE
LE KREMLIN-BICĘTRE

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

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Autosomal recessive Distal Spinal Muscular Atrophy type 1 (IGHMBP2 gene: Sequencing of the entire coding region of gene (s) plus copy number analysis)
Guy's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

AUSTRIA

WIEN
WIEN

Molecular diagnosis of spinal muscular atrophy with respiratory distress (IGHMBP2 gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of spinal muscular atrophy with respiratory distress (IGHMBP2 gene): analysis of the entire coding region
CGMJM - Centro de Genética Médica Jacinto Magalhăes
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

GERMANY

Nordrhein-Westfalen
KÖLN

Molecular diagnosis of Spinal muscular atrophy with respiratory distress (IGHMBP2, MEGF10 genes)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Distal hereditary motor neuropathy type 6 (IGHMBP2 gene: sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of spinal muscular atrophy with respiratory distress type 1 (IGHMBP2 gene)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of spinal muscular atrophy with respiratory distress type 1 (IGHMBP2 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)

ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of spinal muscular atrophy with respiratory distress type 1 (sequence analysis of the entire coding region of IGHMBP2 gene)
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) : 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)

ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of distal hereditary neuropathy (sequence analysis of the entire coding region and selected exons of BSCL2, HSPB1, HSPB3, HSPB8, SETX, GARS, DCTN1, IGHMBP2, PLEKHG5 genes)
Universitŕ degli Studi di Padova- Polo A.Vallisneri
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region

SPAIN

Madrid
MADRID

Diagnosis of spinal muscular atrophy with respiratory distress (IGHMBP2 gene)
Hospital Universitario Ramón y Cajal
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

Reference Centre for neuromuscular diseases: neuropathological, molecular analysis and electronic microscopy of muscle, nerv and skin biopsies
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics, Immunology, Pathology
Objective(s) : Analyte / Enzyme assay

GERMANY

Nordrhein-Westfalen
BONN

Histological diagnosis of Neuromuscular diseases
Universitätsklinikum Bonn
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

ITALY

LAZIO
ROMA

Molecular diagnosis of muscular spinal atrophy with respiratory distress (IGHMBP2 gene)
Policlinico Universitario "A. Gemelli"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Preimplantation genetic diagnosis of spinal muscular atrophy with respiratory distress (IGHMBP2 gene)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of spinal muscular atrophy with respiratory distress type 1 (IGHMBP2 gene)
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, MLPA based techniques