Search for a diagnostic test
105 Result(s)
Caption
: Accreditation
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Asturias
OVIEDO
Diagnosis of CADASIL syndrome (NOTCH3 gene)
Hospital Universitario Central de Asturias
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
Technique(s)
: Sanger sequencing

Nordrhein-Westfalen
BAD OEYNHAUSEN
Diagnosis of CADASIL (NOTCH gene: exon 3 and 4)
Ruhr-Universität Bochum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

Suisse Romande
GENÈVE
Diagnosis of CADASIL (NOTCH3 gene)
Hôpitaux Universitaires de Genève HUG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

Finland
TURKU
Diagnosis of CADASIL (NOTCH3 gene)
Turku University Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques

OOST-VLAANDEREN
GENT
Diagnosis of cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (NOTCH3 gene; all exons of EGFL domains (exons 2-24))
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
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)

Comunidad Valenciana
PATERNA
Diagnosis of CADASIL (NOTCH3 gene)
Sistemas Genómicos S.L.
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Merseyside
LIVERPOOL
Molecular diagnosis of CADASIL - Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy (NOTCH3 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Lanarkshire
GLASGOW
Molecular diagnosis of CADASIL (NOTCH3 gene -exons 3,4,5,6 and 11: by sequencing)
Queen Elizabeth University Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Devon
EXETER
Molecular diagnosis of CADASIL (gene: NOTCH3)
Royal Devon and Exeter Hospital - Wonford site
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Baden-Württemberg
MANNHEIM
Diagnosis of CADASIL (NOTCH3 gene: sequencing, MLPA)
Zentrum für Humangenetik Mannheim
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
Diagnosis of CADASIL
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Cambridgeshire
ST NEOTS
Molecular diagnosis of CADASIL (NOTCH3 gene)
The Aplastic Anaemia Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

Zuid-Holland
LEIDEN
Molecular diagnosis of CADASIL (NOTCH3 gene)
LUMC - Leids Universitair Medisch Centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

South Yorkshire
SHEFFIELD
Molecular diagnosis of CADASIL (sequencing of exons 3, 4, 5, 6, 8, 11, 18, 19)
Sheffield Children's NHS Foundation Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Bayern
MÜNCHEN
Diagnosis of CADASIL (NOTCH3 gene)
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
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)

Mecklenburg-Vorpommern
ROSTOCK
Diagnosis of CADASIL (NOTCH3 gene)
Diagenom GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Sachsen
DRESDEN
Diagnosis of CADASIL (NOTCH3 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

Bayern
NEU-ULM
Diagnosis of CADASIL (NOTCH3 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

Suisse Alémanique
ZÜRICH
Diagnosis of CADASIL (NOTCH3 gene)
Genetica AG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Bayern
REGENSBURG
Diagnosis of CADASIL (NOTCH3 gene: sequencing, MLPA)
Zentrum für Humangenetik Regensburg
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

Sachsen
DRESDEN
Diagnosis of microangiopathy (NGS screening panel, 7 genes)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Sachsen
DRESDEN
Diagnosis of rare dementia (NGS screening panel, 20 Gene)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Sachsen
LEIPZIG
Diagnosis of CADASIL (NOTCH3 gene)
Institut für Humangenetik am Universitätsklinikum Leipzig
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Hamburg
HAMBURG
Diagnosis of CADASIL (NOTCH3 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 CADASIL (NOTCH3 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

Bayern
MÜNCHEN
Diagnosis of CADASIL (NOTCH3 gene)
Medizinisch Genetisches Zentrum München
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

Nordrhein-Westfalen
KÖLN
Diagnosis of CADASIL (NOTCH3 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

Baden-Württemberg
FREIBURG
Diagnosis of CADASIL (NOTCH3 gene)
SYNLAB MVZ Freiburg GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

West Midlands
BIRMINGHAM
Molecular diagnosis of Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy (CADASIL) by sequencing of selected exons of the gene (s) (NOTCH3 gene)
Birmingham Women's NHS Foundation Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons

Nordrhein-Westfalen
DORTMUND
Diagnosis of CADASIL (NOTCH3 gene: sequencing)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s)
: Somatic genetics
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Hamburg
HAMBURG
Diagnosis of CADASIL (NOTCH3 gene: sequencing, MLPA)
Labor Lademannbogen
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

Bayern
MÜNCHEN
Diagnosis of CADASIL (NOTCH3 gene: sequencing, MLPA)
Pränatal-Medizin München MVZ 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

Baden-Württemberg
TÜBINGEN
Diagnosis of cerebral microangiopathies (NGS screening panel: 7 genes)
CeGaT GmbH
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)

Noord-Holland
AMSTERDAM
Diagnosis of Dementia with or without ALS (gene panel)
Amsterdam UMC, locatie VUmc
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, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), MLPA based techniques, Whole Exome Sequencing (WES)

Suisse Romande
GENÈVE
Diagnosis of Dementia (panel)
Hôpitaux Universitaires de Genève HUG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

Noord-Holland
AMSTERDAM
Molecular diagnosis of White Matter Disorders (gene panel)
Amsterdam UMC, locatie VUmc
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

NOUVELLE AQUITAINE
POITIERS
Diagnosis of CADASIL (NOTCH3 gene)
CHU de Poitiers
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

Gelderland
NIJMEGEN
Molecular diagnosis of Vision 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)

Baden-Württemberg
TÜBINGEN
Diagnosis of migraine (NGS screening panel: 9 genes)
CeGaT GmbH
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)

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of CADASIL-CARASIL (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)

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (NOTCH3 gene)
Hospital Universitari de Bellvitge
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

TRENTINO ALTO ADIGE
ROVERETO
Diagnosis of ischemic stroke in young adults [panel of genes]
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 CADASIL (NOTCH3 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 epileptic syndromes (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)

NORTE
PORTO
Molecular diagnosis of CADASIL syndrome (NOTCH3 gene): sequencing of the entire codin region
Instituto de Biologia Molecular e Celular
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Ontario
LONDON
Molecular Diagnosis of CADASIL (NOTCH 3 NGS)
London Health Sciences Centre
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

LAZIO
ROMA
Molecular diagnosis of CADASIL (NOTCH3 gene)
CNR - Istituto di Farmacologia Traslazionale
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

LOMBARDIA
MILANO
Molecular diagnosis of CADASIL (NOTCH3 gene)
IRCCS Ospedale San Raffaele
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Niedersachsen
OSNABRÜCK
Diagnosis of CADASIL
Praxis Dres. Gencik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Hovedstaden
COPENHAGEN
Molecular diagnosis of CADASIL (NOTCH3 gene)
Rigshospitalet
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Bayern
BAD STEBEN
Diagnosis of CADASIL
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Niedersachsen
OSNABRÜCK
Diagnosis of CADASIL (NOTCH3 gene)
Praxis Dres. Gencik
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 CADASIL
CENTOGENE GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Andalucía
MÁLAGA
Diagnosis of CADASIL (NOTCH3 gene)
Health in Code. Málaga
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of CADASIL syndrome (gen NOTCH3 / mutations in exons 3, 4, 5, 6, 11, 12, 18 and 19)
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

Andalucía
SEVILLA
Diagnosis of CADASIL syndrome (NOTCH3 gene / exons 3 and 4)
Hospital Universitario Virgen del Rocío
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques

Comunidad Valenciana
PATERNA
Diagnosis of cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (NOTCH3 gene)
Sistemas Genómicos S.L.
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

VENETO
COSTOZZA DI LONGARE
Molecular diagnosis of CADASIL syndrome (NOTCH3 gene)
B.I.R.D. Foundation
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

WIEN
WIEN
Diagnosis of CADASIL syndrome (NOTCH3 gene)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Comunidad Valenciana
PATERNA
Diagnosis of CADASIL syndrome (NOTCH3 gene)
Igenomix Spain
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: PCR based techniques

La Rioja
LOGROÑO
Diagnosis of CADASIL syndrome (NOTCH3 gene)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
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

Cataluña
TERRASSA
Diagnosis of CADASIL syndrome (NOTCH3 gene)
Consorci Sanitari de Terrassa
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

Comunidad Valenciana
SANT JOAN D'ALACANT
Diagnosis of cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (NOTCH3 gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s)
: 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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Colombie-Britannique
VANCOUVER
Molecular Diagnosis of CADASIL (Sanger sequencing of NOTCH 3, selected exons)
BC Women's Hospital and Health Centre
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

Comunidad Valenciana
ELCHE
Diagnosis of dementia related disorders (gene panel)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

País Vasco
SAN SEBASTIÁN
Diagnosis of CADASIL (NOTCH3 gene)
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)

ILE-DE-FRANCE
PARIS
Diagnosis of familial vascular leukoencephalopathies (Panel)
Hôpital Saint Louis AP-HP
Purpose(s)
: 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, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

MOLISE
POZZILLI
Molecular diagnosis of CADASIL (NOTCH3 gene)
Istituto Neurologico Mediterraneo - IRCCS Neuromed
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, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

Baden-Württemberg
STUTTGART
Diagnosis of CADASIL (NOTCH3 gene)
Klinikum Stuttgart - Standort Olgahospital
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 CADASIL (NOTCH3 gene)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Comunidad Valenciana
ALICANTE
Diagnosis of CADASIL (NOTCH3 gene)
Hospital Clínica Vistahermosa
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

La Rioja
LOGROÑO
Diagnosis of CADASIL (NOTCH3 gene)
Hospital San Pedro
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)

Madrid
MADRID
Diagnosis of CADASIL (NOTCH3 gene; exons 2-6, 11 and 19)
Hospital Clínico San Carlos
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of Rett syndrome and epilepsy (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)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of vasculopathy (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)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of inherited cancer-predisposing syndrome (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)

CAMPANIA
NAPOLI
Diagnosis of CADASIL (NOTCH3 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

LOMBARDIA
CREMONA
Diagnosis of familial thoracic aortic aneurysm and aortic dissection [panel of genes]
ASST Cremona
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

Comunidad Valenciana
VALENCIA
Diagnosis of CADASIL syndrome (NOTCH3 gene)
Hospital Universitario y Politécnico La Fe
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Hessen
FRANKFURT AM MAIN
Diagnosis of CADASIL (NOTCH3 gene)
Senckenberg Zentrum für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

LOMBARDIA
CUSANO MILANINO
Diagnosis of CADASIL (NOTCH3 gene)
Istituto Auxologico Italiano
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Comunidad Valenciana
PATERNA
Diagnosis of rare dementia (panel)
Sistemas Genómicos S.L.
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

TOSCANA
PISA
Diagnosis of cerebral arteriopathy and susceptibility to stroke [panel of genes]
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
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

Region Uppsala
UPPSALA
Diagnosis of CADASIL (NOTCH3 gene)
Akademiska Sjukhuset
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)
: NGS sequencing (except WES), Sanger sequencing

LOMBARDIA
MILANO
Molecular diagnosis of CADASIL (NOTCH3 gene)
ASST Grande Ospedale Metropolitano Niguarda
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

VENETO
VERONA
Molecular diagnosis of CADASIL (NOTCH3 gene)
Centro Airett Ricerca e Innovazione - CARI
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)
: Sanger sequencing

CALABRIA
MANGONE
Molecular diagnosis of CADASIL (NOTCH3 gene)
CNR
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

LOMBARDIA
MILANO
Molecular diagnosis of CADASIL (NOTCH3 gene)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

NORTE
PORTO
Molecular diagnosis of CADASIL: sequencing 4, 11, 12, 18, 19 and 2, 3, 5-10, 13-17, 20, 21-23.
Faculdade de Medicina da Universidade do Porto
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

LAZIO
ROMA
Molecular diagnosis of CADASIL (NOTCH3 gene)
A.O. S. Andrea
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

WIEN
WIEN
Molecular diagnosis of CADASIL syndrome (NOTCH3 gene)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Østlandet
OSLO
Molecular diagnosis of CADASIL (NOTCH3 gene)
Oslo University Hospital, Ullevaal
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

TURKEY
ISTANBUL
Molecular diagnosis of CADASIL (NOTCH3 gene)
Koc University, Faculty of Medicine
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

TURKEY
ISTANBUL
Molecular diagnosis of CADASIL (sequence analysis of exon 3 and 4 of NOTCH3 gene)
Koc University, Faculty of Medicine
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
JERUSALEM
Molecular diagnosis of Cadasil (NOTCH3, Linkage analysis, PGD)
Shaare Zedek Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Suisse Alémanique
REINACH
Molecular diagnosis of CADASIL (NOTCH3 gene)
Diagene Laboratories Inc.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Bratislavsky kraj
BRATISLAVA
Molecular diagnosis of CADASIL syndrome (NOTCH3 gene)
Medgene s.r.o.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

SLOVENIA
MARIBOR
Molecular diagnosis of CADASIL syndrome
Maribor general hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Capital City Prague
PRAHA
Molecular diagnosis of CADASIL syndrome (NOTCH3 gene)
Vseobecna fakultni nemocnice a 1. lekarska fakulta UK
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

UMBRIA
PERUGIA
Molecular diagnosis of CADASIL syndrome (NOTCH3 gene)
Azienda Ospedaliera di Perugia - Centro di Ricerca Emato-Oncologica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

NORTE
PORTO
Diagnosis of CADASIL syndrome (NOTCH3 gene)
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

Cataluña
BARCELONA
Diagnosis of CADASIL syndrome (NOTCH3, HTRA1 genes)
Vall d'Hebron Institut de Recerca VHIR
Purpose(s)
: 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)
: Sanger sequencing

Alberta
CALGARY
Molecular Diagnosis of CADASIL (NOTCH3)
Alberta Children's Hospital
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

PUGLIA
SAN GIOVANNI ROTONDO
Diagnosis of CADASIL (NOTCH3 gene)
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

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