Corneal Dystrophy
Corneal Dystrophy is a condition in which one or more parts of the cornea lose their normal clarity due to a buildup of cloudy material. Most cases of Corneal Dystrophy are of three types, classified by their inheritance pattern: Dominant Granular Dystrophies, Recessive Macular Dystrophy and Dominant Lattice-Like Dystrophies. Corneal Dystrophies are associated with corneal epithelium, Bowman’s layer, corneal stroma, and corneal endothelium. Corneal Dystrophies may be present at birth, but more frequently occur during adolescence.
The Corneal Dystrophy test can be used to screen 333 mutations in 13 different genes: COL8A2, TGFBI, VSX1, CHST6, KRT3, KRT12, GSN, TACSTD2, CYP4V2, SOD1, TCF8/ZEB1, SLC4A11, and UBIAD1. Genetic variations in these genes have been associated with several corneal dystrophies, which are linked to epithelium, stroma, and endothelium.
Genetic testing helps to confirm the diagnosis and provides supportive information for genetic counseling. The test is available both with genotyping service (includes genotyping, electronical copy of the results report) and diagnostic package service (includes DNA extraction, genotyping, additional validation of the APEX-based analysis findings by dideoxy sequencing, interpretation, hard copy of the results report).
Development of the test has been performed in collaboration with Prof. Dr. Rando Allikmets of Columbia University (USA).
ORDERING
Corneal Dystrophy - more info.
|
