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PROVENCE-ALPES-COTE D'AZUR
NICE
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
CLCC Antoine Lacassagne
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, PCR based techniques

TOSCANA
FIRENZE
Molecular diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Azienda Ospedaliero Universitaria Careggi
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Newborn screening
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Nordrhein-Westfalen
DORTMUND
Diagnosis of Crigler-Najjar syndrome
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

ILE-DE-FRANCE
PARIS
Diagnosis of Crigler-Najjar syndrome
Groupe Hospitalier Paris Saint-Joseph
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

Bayern
MARTINSRIED/PLANEGG
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
MVZ Martinsried GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Tayside
DUNDEE
Molecular diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Ninewells Hospital and Medical School
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Baden-Württemberg
MANNHEIM
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Zentrum für Humangenetik Mannheim
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Suisse Alémanique
BERN
Diagnosis of Crigler - Najjar syndrome (UGT1A1 gene)
Universitätsspital Inselspital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Zuid-Holland
ROTTERDAM
Molecular diagnosis of Crigler-Najjar Syndrome (UGT1A1 gene)
Erasmus MC, Faculteitsgebouw
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Rheinland-Pfalz
INGELHEIM AM RHEIN
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
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

Bayern
MÜNCHEN
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Mecklenburg-Vorpommern
ROSTOCK
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Diagenom GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Hamburg
HAMBURG
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Labor Lademannbogen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Cliniques universitaires Saint-Luc - UCLouvain
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

Bayern
NEU-ULM
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

South Yorkshire
SHEFFIELD
Molecular diagnosis of Crigler-Najjar syndrome (UGT1A1 gene: sequencing of exons 1-5)
Sheffield Children's NHS Foundation Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Sachsen
DRESDEN
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

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)

Hamburg
HAMBURG
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Labor Dr. Fenner & Kollegen MVZ GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
KARLSRUHE
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
MVZ Labor PD Dr. Volkmann und Kollegen GbR
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Cataluña
L'HOSPITALET DE LLOBREGAT
Molecular diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Bayern
MÜNCHEN
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Diagnosis of genetic cholestases, liver disorders and hepatocellular insufficiency (Panel)
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)

OBERÖSTERREICH
LINZ
Molecular genetic analysis of the UGT1A1 gene
Ordensklinikum Linz GmbH Barmherzige Schwestern
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Nordrhein-Westfalen
KÖLN
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

TIROL
INNSBRUCK
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Medizinische Universität Innsbruck
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Gelderland
NIJMEGEN
Diagnosis of Crigler-Najjar Syndrome type 1 and 2 (UGT1A1 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Niedersachsen
HANNOVER
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Medizinische Hochschule Hannover
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of inherited disorders of cholestasis and related disorders (gene panel)
Cliniques universitaires Saint-Luc - UCLouvain
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

TRENTINO ALTO ADIGE
ROVERETO
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
MAGI'S LAB srl
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

WIEN
WIEN
Diagnosis of Crigler-Najjar and Gilbert syndromes (UGT1A1 gene)
ARCHIMED Life Science GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Laboratoire Cerba
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE
Diagnosis of inborn errors of metabolism (Panel)
Laboratoire Cerba
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)

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
AP-HP.Université Paris Saclay - Hôpital de Bicêtre
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

AUVERGNE-RHONE-ALPES
LYON
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Eurofins Biomnis
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES)

AUVERGNE-RHONE-ALPES
LYON
Diagnosis of inborn errors of metabolism (Whole Exome)
Eurofins Biomnis
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

Baden-Württemberg
SINGEN /HTWL.
Diagnosis of Crigler-Najjar syndrome
MVZ Laborärzte Singen GbR
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

WIEN
WIEN
Molecular diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

SARDEGNA
CAGLIARI
Molecular diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Ospedale Regionale per le Microcitemie
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

CAMPANIA
NAPOLI
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
CEINGE - Biotecnologie Avanzate Srl
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)
: Sanger sequencing

Niedersachsen
OSNABRÜCK
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Praxis Dres. Gencik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

LAZIO
ROMA
Molecular diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Laboratorio Genoma
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

LOMBARDIA
MONZA
Molecular diagnosis of Crigler-Najjar syndrome, type I and II (UGT1A1 gene)
Fondazione IRCCS San Gerardo
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Castilla - León
SALAMANCA
Diagnosis of Crigler-Najjar syndrome types 1 and 2 (UGT1A1 gene)
Innovagenomics, S.L.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Comunidad Valenciana
PATERNA
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Sistemas Genómicos S.L.
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
ULM
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
MVZ Humangenetik Ulm GbR
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Mecklenburg-Vorpommern
ROSTOCK
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
CENTOGENE GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Cataluña
TERRASSA
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Consorci Sanitari de Terrassa
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

Comunidad Valenciana
SANT JOAN D'ALACANT
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing, PCR based techniques

Comunidad Valenciana
ELCHE
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic 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)
: Sanger sequencing

Baden-Württemberg
STUTTGART
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

GRAND-EST
VANDOEUVRE-LÈS-NANCY
Diagnosis of hepatic diseases (Panel)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

WIEN
WIEN
Molecular diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

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)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of intellectual disability (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

GRAND-EST
VANDOEUVRE-LÈS-NANCY
Diagnosis of rare inborn errors of metabolism (Whole exome)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

Bayern
MÜNCHEN
Diagnosis of Crigler-Najjar syndrome (enzyme assay / UGT1A1 gene)
Labor für molekulare Genetik und metabolische Erkrankungen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

NORTE
PORTO
Molecular diagnosis of Crigler-Najjar syndrome, types 1 and 2 (UGT1A1 gene)
CGMJM - Centro de Genética Médica Jacinto Magalhães
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

SICILIA
PALERMO
Molecular diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Azienda Ospedaliera Ospedali Riuniti "Villa Sofia-Cervello" - Presidio Cervello
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

WIEN
WIEN
Molecular diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Nordrhein-Westfalen
BONN
Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
MVZ Institut für Klinische Genetik und Tumorgenetik Bonn GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

UMBRIA
PERUGIA
Molecular diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Università degli Studi di Perugia - Ospedale S. Maria della Misericordia
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

NORTE
PORTO