Disorders


 

Cohen Syndrome


 

GeneReviewOMIM

GeneLocusProtein
VPS13B8q22-q23Vacuolar protein sorting-associated protein 13B

Laboratory Test Method Prenatal Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Sequence analysis of the entire coding region
  
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
 
CGC Genetics - Porto, Portugal• Targeted mutation analysis
• Deletion/duplication analysis
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Deletion/duplication analysis
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland• Sequence analysis of the entire coding region
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of select exons
 
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
 
HUSLAB, Laboratory of Genetics - Helsinki, Finland• Targeted mutation analysis
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
Medgene, MedGene - Bratislava, Slovakia• Deletion/duplication analysis
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Deletion/duplication analysis
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• 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

* 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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