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

GERMANY
Nordrhein-Westfalen
DORTMUND
Molecular diagnosis of familial erythrocytosis 1-4 (EGLN1, EPAS1, EPOR, VHL genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

BELGIUM
LIEGE
LIEGE
Molecular diagnosis of Congenital secondary polycythemia (VHL, EGLN1 and EPAS1 genes)
CHU de LIEGE - UniLab Lg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

GERMANY
Nordrhein-Westfalen
KÖLN
Molecular diagnosis of Chuvash erythrocytosis (VHL gene: sequencing)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

FRANCE
PAYS DE LA LOIRE
NANTES
Diagnosis of polycythemia (Panel)
CHU de Nantes - Institut de Biologie
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

GERMANY
Bayern
MÜNCHEN
Molecular diagnosis of Chuvash erythrocytosis (VHL gene)
Pränatalmedizin München
Purpose(s)
: Antenatal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of polycythemia related disorders (panel)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of Chuvash erythrocytosis (VHL gene)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

GERMANY
Baden-Württemberg
ULM
Molecular diagnosis of familial erythrocytosis (EGLN1, EGLN2, EPOR, VHL genes)
DRK Baden-Württemberg/ Hessen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

GERMANY
Baden-Württemberg
TÜBINGEN
Molecular diagnosis of Chuvash erythrocytosis (VHL gene)
CeGaT GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

GERMANY
Hessen
FRANKFURT AM MAIN
Molecular diagnosis of von-Hippel-Lindau disease (VHL gene: sequencing, MLPA)
bio.logis Zentrum für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

PORTUGAL
CENTRO
COIMBRA
Molecular diagnosis of polycythemia VHL-dependent (VHL gene)
Hosp. Pediátrico e Hosp. Covões - Centro Hospitalar e Universitário de Coimbra
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

SPAIN
Cataluña
BARCELONA
Molecular diagnosis of genetic polycythemia (EPOR, VHL, EGLN1, EPAS1 genes)
Hospital del Mar
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

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

AUSTRIA
WIEN
WIEN
Molecular diagnosis of Chuvash erythrocytosis (VHL gene)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

NETHERLANDS
Utrecht
UTRECHT
Molecular diagnosis of Congenital Secondary Erythrocytosis due to Hemoglobin Variant with High Oxygen-Affinity (HBA1, HBA2 and HBB 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

NETHERLANDS
Utrecht
UTRECHT
Molecular diagnosis of Congenital Secondary Erythrocytosis due to Defective Oxygen Sensing (VHL, EPAS1 and EGLN1 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

SPAIN
Madrid
SAN SEBASTIÁN DE LOS REYES