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

FRANCE
ILE-DE-FRANCE
CRÉTEIL
Diagnosis of constitutional hemolytic anemia (Panel)
Hôpitaux Universitaires Henri Mondor
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)

GERMANY
Baden-Württemberg
TÜBINGEN
Diagnosis of hematopoietic defects (NGS screening panel: 183 genes)
CeGaT GmbH
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)

FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of constitutional hemolytic anemia (Panel)
CHU Paris - Hôpital Robert Debré
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques

FRANCE
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Diagnosis of rare red blood cell enzymopathies and membranopathies (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, Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

FRANCE
NORMANDIE
CAEN
Diagnosis of mitochondrial diseases (first-line panel)
CHU de Caen - Hôpital de la Côte de Nacre
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

FRANCE
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Diagnosis of constitutional hemolysis (Panel EKTA)
AP-HP.Université Paris Saclay - Hôpital de Bicêtre
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of rare hemolytic anemia (gene panel)
BLOODGENETICS S.L
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis, Newborn screening
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

NETHERLANDS
Utrecht
UTRECHT
Molecular diagnosis of Hemolytic Anemia due to Glutathione Reductase Deficiency (GSR gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: Sanger sequencing

UNITED KINGDOM
Greater London
LONDON