Kjer-type optic atrophy
Analysis ID 171
Analysis location Collaboration with another facility
Diagnosed illness Kjer-type optic atrophy
OMIM 165500
Clinical information Optic atrophy type 1 (Kjer-type optic atrophy) is a condition that influences vision. Individuals with this condition have progressive vision loss that typically begins during the first decade of life. The severity of vision loss varies widely among patients or even among the members of the same family. Some people with this condition can have nearly normal vision, whereas the other present with complete blindness.
Type of analysis Microarray
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes OPA1
Analysis description Analysis consists of 118 mutations in OPA1 gene studied with use of microarray technology
Analysis indication Symptoms of Kjer-type optic atrophy
Analysis time Appointed individually
Refund No
CGM laboratory name Laboratory for Molecular Genetics