Disorders


 

CADASIL


Synonym(s): Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

 

GeneReviewOMIM

GeneLocusProtein
NOTCH319p13.2-p13.1Neurogenic locus notch homolog protein 3

Laboratory Test Method Prenatal Carrier *
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada• Sequence analysis of select exons
  
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Sequence analysis of the entire coding region
  
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada• Sequence analysis of select exons
  
bio.logis Center for Human Genetics - Frankfurt, Germany• Sequence analysis of the entire coding region
 
Burc Molecular Genetics Laboratory - Istanbul, Turkey• Sequence analysis of select exons
 
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
 
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Sequence analysis of the entire coding region
 
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
CGC Genetics - Porto, Portugal• Sequence analysis of select exons
 
Cliniques universitaires Saint Luc, Center for Human Genetics - Brussels, Belgium• Sequence analysis of the entire coding region
 
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
 
diagenos - Osnabrueck, Germany• Mutation scanning of the entire coding region
 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Sequence analysis of the entire coding region
 
Gene Analysis Service - Berlin, Germany• Sequence analysis of select exons
 
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic• Sequence analysis of select exons
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
• Sequence analysis of select exons
 
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
 
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland• Sequence analysis of select exons
 
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of the entire coding region
• Sequence analysis of select exons
 
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
 
Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis - Leiden, Netherlands• Sequence analysis of select exons
 
London Health Sciences Centre, Molecular Diagnostic Laboratory - London, Canada• Sequence analysis of select exons
 
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland• Sequence analysis of select exons
 
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
 
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain• Sequence analysis of select exons
 
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea• Sequence analysis of the entire coding region
 
Secugen SL - Madrid, Spain• Sequence analysis of select exons
 
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea• Sequence analysis of the entire coding region
 
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain• Sequence analysis of select exons
 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Sequence analysis of the entire coding region
• Sequence analysis of select exons
 
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
University of Greifswald, Institute of Human Genetics - Greifswald, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
University of Turku, Diagnostic DNA Laboratory - Turku, Finland• Sequence analysis of select exons
• Targeted mutation analysis
 

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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