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SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation Search of genomic DNA duplications and/or deletions by array-CGH
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : Array based techniques

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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation Molecular diagnosis of Alagille syndrome (JAG1 and NOTCH2 genes)
GHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

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AUSTRIA

STEIERMARK
GRAZ

Accreditation Molecular diagnosis of Alagille syndrome (JAG1 and NOTCH2 genes)
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation Search of genomic DNA duplications and/or deletions by CGH arrays / chromosomal microarrays
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : Array based techniques

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Molecular diagnosis of Alagille Syndrome (JAG1 and NOTCH2 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, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation Molecular diagnosis of Alagille syndrome (JAG1, NOTCH2 genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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GERMANY

Rheinland-Pfalz
MAINZ

Accreditation MLPA analysis of microdeletion syndrome regions
Universitätsmedizin Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques

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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation Molecular diagnosis of Alagille syndrome (JAG1, NOTCH2 genes)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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GERMANY

Hamburg
HAMBURG

Accreditation Molecular diagnosis of Alagille syndrome (JAG1, NOTCH2 genes)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of microdeletion and microduplication syndromes by FISH and array CGH
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques, FISH

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GERMANY

Rheinland-Pfalz
MAINZ

Accreditation Molecular cytogenetic diagnosis of Alagille syndrome
Institut für Klinische Genetik Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

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UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation Molecular cytogenetic diagnosis of Alagille syndrome (by chromosome and FISH analysis)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUXELLES

Accreditation Molecular diagnosis of Allagille syndrome (JAG1 gene)
Université Catholique de Louvain - UCL
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation Molecular diagnosis of Alagille syndrome (JAG1, NOTCH2 genes: sequencing)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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UNITED KINGDOM

West Yorkshire
LEEDS

Accreditation Molecular and molecular cytogenetic diagnosis of Alagille syndrome (JAG1 gene: FISH and MLPA at 20p12)
St James's University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Technical procedure(s) : MLPA based techniques, FISH

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GERMANY

Sachsen
DRESDEN

Accreditation Molecular diagnosis of Alagille syndrome (JAG1, NOTCH2 genes: sequencing, MLPA)
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

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FRANCE

RHONE-ALPES
LYON

Accreditation Molecular cytogenetic diagnosis of Alagille syndrome
Eurofins Biomnis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

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SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation Molecular diagnosis of Alagille syndrome (JAG1, NOTCH2 genes; entire coding region / MLPA)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : MLPA based techniques

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SWITZERLAND

Suisse Alémanique
BERN

Accreditation Diagnosis of Alagille syndrome (JAG1 and NOTCH2 genes)
Inselspital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Molecular diagnosis in case of Multiple Congenital Anomalies (SNP-array)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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NETHERLANDS

Limburg
MAASTRICHT

Accreditation Molecular diagnosis of Alagille Syndrome (JAG1 gene)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Baden-Württemberg
MANNHEIM

Accreditation Molecular diagnosis of Alagille syndrome (JAG1, NOTCH2 genes)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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NETHERLANDS

Utrecht
UTRECHT

Accreditation Molecular diagnosis of Congenital Heart Defects (gene panel; CAR05v16.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

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GERMANY

Baden-Württemberg
FREIBURG

Accreditation Molecular diagnosis of Alagille syndrome (JAG1, NOTCH2 genes)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Molecular diagnosis of Alagille syndrome (JAG1, NOTCH2 genes)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Bayern
MÜNCHEN

Accreditation Molecular diagnosis of Alagille syndrome (JAG1, NOTCH2 genes: sequencing, MLPA)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Molecular diagnosis of Alagille syndrome (JAG1, NOTCH2 genes: sequencing)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation Diagnosis of intrahepatic cholestasis (Panel)
GHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation 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
Technical procedure(s) : NGS sequencing (except WES)

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GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation Molecular diagnosis of Alagille syndrome (JAG1 gene)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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UNITED KINGDOM

Devon
EXETER

Accreditation Molecular diagnosis of Alagille syndrome (JAG1 & NOTCH2 genes)
Royal Devon and Exeter Hospital - Wonford site
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation Molecular cytogenetic diagnosis of Alagille syndrome (FISH of JAG1 at 20p12.2)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

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UNITED KINGDOM

Greater London
LONDON

Accreditation Molecular diagnosis of Alagille syndrome (JAG1 gene: by MLPA, 2 probes for the 20p12.2 region)
The Doctors Laboratory Ltd
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : MLPA based techniques

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GERMANY

Baden-Württemberg
SINGEN /HTWL.

Accreditation Molecular diagnosis of Alagille syndrome (JAG1 gene: sequencing, MLPA)
Institut für Laboratoriumsmedizin und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

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UNITED KINGDOM

Devon
EXETER

Accreditation Molecular diagnosis of Hajdu-Cheney Syndrome by sequencing of selected exons of gene (s) (NOTCH2 gene)
Royal Devon and Exeter Hospital - Wonford site
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons

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GERMANY

Sachsen-Anhalt
HALLE (SAALE)

Molecular and molecular cytogenetic diagnosis of Alagille syndrome (JAG1 gene, deletion screening, microsatellites)
Institut für Humangenetik der Martin-Luther-Universität Halle Wittenberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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FRANCE

ILE-DE-FRANCE
PARIS

Molecular cytogenetic diagnosis of Alagille syndrome (FISH analysis of 20p11 deletion - JAG1 gene)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

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ITALY

TOSCANA
PISA

Postnatal molecular diagnosis of Alagille syndrome (JAG1, NOTCH2 genes)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

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UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Cytogenetic diagnosis of Alagille syndrome (by conventional karyotype and FISH analysis)
Cambridge University Hospitals NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technical procedure(s) : FISH, Karyotyping

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UNITED KINGDOM

Greater London
LONDON

Cytogenetic diagnosis of Alagille syndrome (by FISH at 20p12.2)
Guy's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

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GERMANY

Nordrhein-Westfalen
BONN

Molecular diagnosis of Alagille syndrome (JAG1 gene)
Institut für Klinische Genetik Bonn
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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SPAIN

Andalucía
MÁLAGA

Diagnosis of Alagille syndrome (JAG1, NOTCH2 genes)
Genetaq
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

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GREECE

ATTIKI
ATHENS

Molecular cytogenetic diagnosis of Alagille syndrome by FISH
Bioiatriki S.A.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

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POLAND

Warszawa
WARSAW

Molecular diagnosis of Alagille syndrome (JAG1 gene)
Instytut "Pomnik-Centrum Zdrowia Dziecka"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of Alagille syndrome (JAG1, NOTCH2 genes)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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FRANCE

LANGUEDOC-ROUSSILLON
MONTPELLIER

Cytogenetics pre-natal and post-natal diagnosis of Alagille syndrome (by FISH)
CHRU de Montpellier - Hôpital Arnaud de Villeneuve
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

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SPAIN

Andalucía
ARMILLA

Molecular diagnosis of Alagille syndrome (entire coding sequence of JAG1 gene)
Lorgen G.P.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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ITALY

LAZIO
ROMA

Molecular diagnosis of Alagille syndrome (JAG1 gene)
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of Alagille syndrome (JAG1, NOTCH2 genes)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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POLAND

Warszawa
WARSZAWA

Cytogenetic diagnosis of constitutional chromosomal abnormalities (microdeletion/ microduplication syndromes by FISH, MLPA, array CGH: MLPA kits P245, P297, P036)
Instytut Matki i Dziecka
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technical procedure(s) : MLPA based techniques, Array based techniques, FISH, Karyotyping

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GERMANY

Baden-Württemberg
FREIBURG

Molecular cytogenetic diagnosis of Alagille syndrome
Institut für Humangenetik am Universitätsklinikum Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

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SPAIN

Aragón
ZARAGOZA

Diagnosis of Alagille syndrome (JAG1 gene)
Hospital Universitario Miguel Servet
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques

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GERMANY

Bayern
ERLANGEN

Molecular diagnosis of Alagille syndrome (JAG1 gene)
Humangenetisches Institut am Universitätsklinikum Erlangen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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SPAIN

País Vasco
DERIO

Molecular diagnosis of Alagille syndrome (aCGH)
Genetadi Biotech S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LAZIO
ROMA

Molecular cytogenetic diagnosis of Alagille syndrome
Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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FRANCE

BRETAGNE
BREST

Molecular diagnosis of dysmorphological syndromes by CGH array
CHRU de Brest - Hôpital Morvan
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

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ITALY

FRIULI VENEZIA GIULIA
UDINE

Molecular cytogenetic diagnosis of Alagille syndrome
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of Alagille syndrome (JAG1 and NOTCH2 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

País Vasco
SAN SEBASTIÁN

Molecular diagnosis of mental retardation syndromes (MLPA kit P064)
Policlínica Gipuzkoa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : MLPA based techniques

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SPAIN

País Vasco
SAN SEBASTIÁN

Molecular diagnosis of Alagille syndrome due to 20p12 microdeletion (JAG1 gene / array-CGH)
Policlínica Gipuzkoa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

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DENMARK

Sjælland
GLOSTRUP

Molecular diagnosis of intellectual deficit due to microdeletions microduplications (SALSA MLPA kit P064)
Kennedy Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of Alagille syndrome due to a JAG1 point mutation (JAG1 gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

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PORTUGAL

NORTE
PORTO

Prenatal and postnatal molecular diagnosis of Allagile Syndrome (JAG1 gene: sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of Alagille syndrome due to a NOTCH2 point mutation (NOTCH2 gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

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SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of Alagille syndrome due to a JAG1 point mutation (JAG1 gene / entire coding sequence; MLPA)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : MLPA based techniques

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SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of Alagille syndrome (JAG1, NOTCH2 genes)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), MLPA based techniques, Array based techniques

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SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of Alagille syndrome (JAG1, NOTCH2 genes)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), MLPA based techniques

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FRANCE

NORD-PAS-DE-CALAIS
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
Technical procedure(s) : NGS sequencing (except WES)

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FRANCE

NORD-PAS-DE-CALAIS
LILLE

Diagnosis of deafness (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
Technical procedure(s) : NGS sequencing (except WES)

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GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of Alagille syndrome (JAG1 gene)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of Alagille syndrome (JAG1 gene)
medgen.at GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

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ITALY

LOMBARDIA
CUSANO MILANINO

Molecular diagnosis of Alagille syndrome (JAG-1, NOTCH2 gene)
Istituto Auxologico Italiano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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TURKEY

TURKEY
ESKISEHIR

Molecular diagnosis of Microdeletion syndromes by MLPA and FISH analysis
Eskisehir Osmangazi University Medical Faculty
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : MLPA based techniques, FISH

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ISRAEL

ISRAEL
JERUSALEM

Molecular diagnosis of Alagille (JAG1, Linkage analysis, PGD)
Shaare Zedek Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Alagille syndrome (JAG1, NOTCH2 genes)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Methylation analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

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POLAND

Warszawa
WARSAW

Molecular diagnosis of intellectual deficit syndromes (MLPA kits P064 & P096)
Instytut "Pomnik-Centrum Zdrowia Dziecka"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : MLPA based techniques

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ITALY

PUGLIA
LECCE

Molecular cytogenetics diagnosis of Alagille syndrome
Presidio Ospedaliero "Vito Fazzi" - ASL LE
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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FRANCE

RHONE-ALPES
BRON

Diagnosis of congenital heart malformations (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES)

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