Search for a diagnostic test
8 Result(s)
Caption
: Accreditation
= ;

GERMANY
Bayern
MÜNCHEN
Diagnosis of myopathy /muscular dystrophy (NGS screening panel, 218 genes)
Medizinisch Genetisches Zentrum München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

FRANCE
GRAND-EST
STRASBOURG
Diagnosis of myopathy (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
Technique(s)
: NGS sequencing (except WES)

FRANCE
AUVERGNE-RHONE-ALPES
BRON
Diagnosis of deficits of mitochondrial oxidation of fatty acids (Panel)
CHU de Lyon HCL - GH Est
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

FRANCE
PROVENCE-ALPES-COTE D'AZUR
NICE
Diagnosis of mitochondrial diseases (Panel)
CHU de Nice - Hôpital l'Archet 2
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Whole Exome Sequencing (WES)

FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of inborn errors of metabolism and liver failure (Panel)
Hôpital Necker-Enfants Malades
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

FRANCE
AUVERGNE-RHONE-ALPES
BRON
Diagnosis of metabolic myopathy (Panel)
CHU de Lyon HCL - GH Est
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

SPAIN
Madrid
CANTOBLANCO
Diagnosis of multiple acyl-CoA dehydrogenase deficiency (ETFDH, ETFA, ETFB, SLC25A32 genes)
Universidad Autónoma de Madrid. Facultad de Ciencias
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Newborn screening
Specialty(ies)
: Molecular genetics, Biochemical genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

SPAIN
Cataluña
BARCELONA