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

Suisse Romande
LAUSANNE
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
Technique(s)
: Array based techniques

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
Technique(s)
: FISH

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

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

Suisse Alémanique
SCHLIEREN
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
Technique(s)
: Array based techniques

Zuid-Holland
ROTTERDAM
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
Technique(s)
: Sanger sequencing, MLPA based techniques

Mecklenburg-Vorpommern
ROSTOCK
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
Technique(s)
: Sanger sequencing

Rheinland-Pfalz
MAINZ
MLPA analysis of microdeletion syndrome regions
Universitätsmedizin Mainz
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: MLPA based techniques

Mecklenburg-Vorpommern
ROSTOCK
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
Technique(s)
: Sanger sequencing

Hamburg
HAMBURG
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
Technique(s)
: Sanger sequencing

Bayern
MÜNCHEN
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
Technique(s)
: Array based techniques, FISH

Rheinland-Pfalz
MAINZ
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
Technique(s)
: FISH

West Midlands
BIRMINGHAM
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
Technique(s)
: FISH

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUXELLES
Molecular diagnosis of Allagille syndrome (JAG1 gene)
Université Catholique de Louvain - UCL
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

Rheinland-Pfalz
INGELHEIM AM RHEIN
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
Technique(s)
: Sanger sequencing

West Yorkshire
LEEDS
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
Technique(s)
: MLPA based techniques, FISH

Sachsen
DRESDEN
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
Technique(s)
: Sanger sequencing, MLPA based techniques

AUVERGNE-RHONE-ALPES
LYON
Molecular cytogenetic diagnosis of Alagille syndrome
Eurofins Biomnis
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: FISH

Suisse Alémanique
SCHLIEREN
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
Technique(s)
: MLPA based techniques

Suisse Alémanique
BERN
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
Technique(s)
: Sanger sequencing, MLPA based techniques

Gelderland
NIJMEGEN
Molecular diagnosis in case of Multiple Congenital Anomalies (SNP-array)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: Array based techniques

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

Baden-Württemberg
MANNHEIM
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
Technique(s)
: Sanger sequencing

Utrecht
UTRECHT
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
Technique(s)
: NGS sequencing (except WES)

Baden-Württemberg
FREIBURG
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
Technique(s)
: Sanger sequencing

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of Alagille syndrome (gene 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)

Bayern
MÜNCHEN
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
Technique(s)
: Sanger sequencing, MLPA based techniques

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

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)

Nordrhein-Westfalen
KÖLN
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
Technique(s)
: Sanger sequencing

TIROL
INNSBRUCK
Molecular diagnosis of Alagille syndrome (JAG1 gene)
Medizinische Universität Innsbruck
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), Sanger sequencing, MLPA based techniques

Suisse Alémanique
BERN
Diagnosis of Cholestasis (Panel)
Inselspital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Bayern
MARTINSRIED
Molecular diagnosis of Alagille syndrome (JAG1, NOTCH2 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
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), MLPA based techniques

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)

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

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

Greater London
LONDON
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
Technique(s)
: MLPA based techniques

Baden-Württemberg
SINGEN /HTWL.
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
Technique(s)
: Sanger sequencing, MLPA based techniques

Devon
EXETER
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

Baden-Württemberg
TÜBINGEN
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
Technique(s)
: Sanger sequencing

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

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
Technique(s)
: Sanger sequencing

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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

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
Technique(s)
: NGS sequencing (except WES)

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

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

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

OCCITANIE
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
Technique(s)
: FISH

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

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

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
Technique(s)
: Sanger sequencing

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
Technique(s)
: MLPA based techniques, Array based techniques, FISH, Karyotyping

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
Technique(s)
: FISH

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
Technique(s)
: MLPA based techniques

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
Technique(s)
: Sanger sequencing

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

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

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
Technique(s)
: Array based techniques

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

WIEN
WIEN
Molecular diagnosis of Alagille syndrome (JAG1 and NOTCH2 genes)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

País Vasco
SAN SEBASTIÁN
Molecular diagnosis of mental retardation syndromes (MLPA kit P064)
Policlínica Gipuzkoa
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Technique(s)
: MLPA based techniques

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
Technique(s)
: Array based techniques

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

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

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

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

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
Technique(s)
: MLPA based techniques

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
Technique(s)
: NGS sequencing (except WES), MLPA based techniques, Array based techniques

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
Technique(s)
: NGS sequencing (except WES), MLPA based techniques

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)

HAUTS-DE-FRANCE
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
Technique(s)
: NGS sequencing (except WES)

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
Technique(s)
: Sanger sequencing, MLPA based techniques

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
Technique(s)
: Sanger sequencing, MLPA based techniques

WIEN
WIEN
Molecular diagnosis of Alagille syndrome (JAG1 gene)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Nordrhein-Westfalen
KÖLN
Molecular diagnosis of hereditary kidney disease (NGS screening panel: 411 Gene)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), 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)

LOMBARDIA
CUSANO MILANINO
Molecular diagnosis of Alagille syndrome (JAG-1, NOTCH2 gene)
Istituto Auxologico Italiano
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

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
Technique(s)
: FISH, Karyotyping

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
Technique(s)
: MLPA based techniques, FISH

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

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

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
Technique(s)
: Sanger sequencing

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
Technique(s)
: Sanger sequencing, MLPA based techniques

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
Technique(s)
: MLPA based techniques

Nordrhein-Westfalen
DÜSSELDORF
Array-CGH in case of unexplained developmental delay
Praenatal-Medizin und Genetik, Düsseldorf
Purpose(s)
: Antenatal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: Array based techniques

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

AUVERGNE-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
Technique(s)
: NGS sequencing (except WES)

GRAND-EST
VANDOEUVRE-LÈS-NANCY