Disorders


 

Corneal Dystrophy, Epithelial Basement Membrane


Synonym(s): Cogan Corneal Dystrophy, Corneal Dystrophy, Anterior Basement Membrane, Corneal Dystrophy, Map-Dot-Fingerprint Type, Corneal Dystrophy, Microcystic

 

OMIM

GeneLocusProtein
TGFBI5q31Transforming growth factor-beta-induced protein ig-h3

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, 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
 

* 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.

Loading...