Disorders


 

Pseudoinflammatory Fundus Dystrophy


Synonym(s): Sorsby Fundus Dystrophy, Sorsby Syndrome

 

OMIM

GeneLocusProtein
TIMP322q12.3Metalloproteinase inhibitor 3

Laboratory Test Method Prenatal Carrier *
Children's University Hospital, Human Genetics - Berne, Switzerland• Mutation scanning of the entire coding region
  
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain• Sequence analysis of select exons
  
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Deletion/duplication analysis
 
University of California-San Diego, Ophthalmic Molecular Diagnostic Laboratory - La Jolla, CA, USA• Sequence analysis of the entire coding region
 
University of Iowa, John and Marcia Carver Nonprofit Genetic Testing Laboratory - Iowa City, IA, USA• Sequence analysis of select exons
 

* 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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