Disorders


 

WFS1-Related Disorders


 

GeneReviewOMIM

GeneLocusProtein
WFS14p16.1Wolframin

Laboratory Test Method Prenatal Carrier *
bio.logis Center for Human Genetics - Frankfurt, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
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
• Deletion/duplication analysis
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA• Sequence analysis of the entire coding region
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of select exons
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA• Sequence analysis of the entire coding region
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Sequence analysis of the entire coding region
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar• Sequence analysis of the entire coding region
 
University Hospital of Antwerp, Department of Medical Genetics - Wuyts Lab - Edegem, Belgium• Sequence analysis of the entire coding region
 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA• Sequence analysis of the entire coding region
University of Copenhagen, Wilhelm Johannsen Centre for Functional Genomics - Copenhagen, Denmark• Sequence analysis of the entire coding region
• Deletion/duplication analysis
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA• 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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