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

GERMANY
Hamburg
HAMBURG
Molecular diagnosis of intrahepatic cholestasis (ABCB4, ABCB11, ATP8B1 genes)
Labor Lademannbogen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

NETHERLANDS
Noord-Holland
AMSTERDAM
Molecular diagnosis of Intrahepatic Cholestasis of Pregnancy (ABCB4 gene)
AMC - Academisch Medisch Centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

FRANCE
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Molecular diagnosis of intrahepatic cholestasis of pregnancy (ABCB4, ABCB11, ATP8B1 and NR1H4 genes)
GHU Paris-Sud - 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)

SWITZERLAND
Suisse Romande
GENÈVE
Molecular diagnosis of ABCB4 gene - related disorders (PFIC3, Intrahepatic cholestasis of pregnancy, Low phospholipid associated cholestasis)
Hôpitaux Universitaires de Genève HUG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

GERMANY
Rheinland-Pfalz
INGELHEIM AM RHEIN
Molecular diagnosis of intrahepatic cholestasis (ABCB4, ABCB11, ATP8B1 genes)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

GERMANY
Bayern
REGENSBURG
Molecular diagnosis of intrahepatic cholestasis (ABCB4, ABCB11, ATP8B1 genes)
Universitätsklinikum Regensburg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

GERMANY
Mecklenburg-Vorpommern
ROSTOCK
Molecular diagnosis of intrahepatic cholestasis (ABCB11, ATP8B1 genes)
Centogene AG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

SWITZERLAND
Suisse Romande
LAUSANNE
Diagnosis of ABCB4 gene - related disorders (PFIC3, Intrahepatic cholestasis of pregnancy, Low phospholipid associated cholestasis)
Synlab Lausanne
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

GERMANY
Bayern
MÜNCHEN
Molecular diagnosis of intrahepatic cholestasis (ABCB4, ABCB11, ATP8B1 genes)
Pränatalmedizin München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

FRANCE
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Diagnosis of metabolic liver diseases (Panel)
GHU Paris-Sud - 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)

NETHERLANDS
Utrecht
UTRECHT
Molecular diagnosis of Intrahepatic Cholestasis (gene panel; MET02v16.2)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

NETHERLANDS
Utrecht
UTRECHT
Molecular diagnosis of Neonatal and Paediatric Cholestasis (gene panel; MET09v16.2)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

NETHERLANDS
Utrecht
UTRECHT
Molecular diagnosis of Syndrome with Cholestasis (gene panel; MET10v16.2)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

GERMANY
Baden-Württemberg
TÜBINGEN
Molecular diagnosis of intrahepatic cholestasis (ABCB4, ATP8B1 genes)
CeGaT GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

FRANCE
HAUTS-DE-FRANCE
LILLE
Diagnosis of inherited disorders of cholestasis (Panel)
CHRU de Lille - Centre de Biologie Pathologie Génétique
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
OCCITANIE
MONTPELLIER
Pharmacogenetics analysis of hematology (Panel)
CHU de Montpellier - Hôpital Saint-Eloi
Purpose(s)
: Post-natal diagnosis, Pharmacogenetics
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: NGS sequencing (except WES)

FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of metabolic liver diseases (Panel)
CHU Paris Est - Hôpital Saint-Antoine
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), Sanger sequencing, MLPA based techniques

AUSTRIA
WIEN
WIEN
Molecular diagnosis of intrahepatic cholestasis (ATP8B1, ABCB11, and ABCB4 genes)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

AUSTRIA
WIEN
WIEN
Molecular diagnosis of intrahepatic cholestasis (ABCB4, ABCB11, and ATP8B1 genes)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

ITALY
VENETO
PADOVA
Molecular diagnosis of hereditary liver diseases [panel of genes]
Research&Innovation S.r.l. (R&I Genetics)
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), Whole Exome Sequencing (WES)

FRANCE
CENTRE-VAL DE LOIRE
TOURS
Molecular diagnosis of cholestasis and cholelithiasis (ABCB4 and ABCB11 genes: exons and flanking intronic regions sequencing)
CHRU de Tours - Hôpital Bretonneau
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

NORWAY
Østlandet
OSLO