Leber congenital amaurosis (LCA)
Analysis ID 170
Analysis location Collaboration with another facility
Diagnosed illness Leber congenital amaurosis (LCA)
OMIM
Clinical information Leber congenital amaurosis is an eye disorder, which is characterized by a severe visual impairment beginning in infancy. The visual loss tends to be stable, although it may slowly progress over time. Leber congenital amaurosis is also associated with other additional features such as increased sensitivity to light (photophobia), nystagmus, hyperopia, cone-shaped cornea, and keratoconus. In rare patients with this syndrome, delayed development and intellectual disability have been noted. At least 13 types of Leber congenital amaurosis have been described based upon genetic cause, pattern of vision loss, and related eye abnormalities.
Type of analysis Microarray
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes
Analysis description Testing consists of 495 mutations in 12 genes with use of microarray technology
Analysis indication Symptoms of Leber congenital amaurosis
Analysis time Appointed individually
Refund No
CGM laboratory name