Search for a diagnostic test
7 Result(s)
Caption
: Accreditation
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GERMANY
Bayern
MÜNCHEN
Diagnosis of histiocytoid cardiomyopathy (MTCYB gene)
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

NETHERLANDS
Gelderland
NIJMEGEN
Diagnosis of Metabolic Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

FRANCE
NORMANDIE
CAEN
Diagnosis of mitochondrial diseases (exhaustive study of mitochondrial DNA by NGS)
CHU de Caen - Hôpital de la Côte de Nacre
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

FRANCE
NORMANDIE
CAEN
Diagnosis of mitochondrial diseases by mutation of nuclear genes (Panel)
CHU de Caen - Hôpital de la Côte de Nacre
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, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

SPAIN
País Vasco
SAN SEBASTIÁN
Diagnosis of mitochondrial cardiopathies (MT-CYB, MT-TI, MT-TL genes)
DNA Data
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

SPAIN
Madrid
MADRID
Diagnosis of mitochondrial disease with cardiomyopathy (panel)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ISRAEL
ISRAEL
HOLON