Corneal dystrophies
Analysis ID 168
Analysis location Collaboration with another facility
Diagnosed illness Corneal dystrophies
OMIM
Clinical information Corneal dystrophies are inherited eye disorders that primarily affect cornea. In these conditions, the cornea becomes cloudy and may have irregularities on the surface. Corneal changes lead to visual impairment, including blurring, glare, and a loss of visual acuity. Visual impairment is often associated with the secondary eye abnormalities, including amblyopia, strabismus, nystagmus, and increased sensitivity to light (photophobia).
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes
Analysis description Analysis consists of 325 mutations in 13 genes and is performed by means of microarray technology
Analysis indication Corneal dystrophy
Analysis time Appointed individually
Refund No
CGM laboratory name