Kjer – type optic atrophy
Analysis ID 223
Analysis location “GENESIS” Centre for Medical Genetics
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 Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes OPA1
Analysis description Analysis consists of identification of deletions or duplication in the OPA1 gene with use of MLPA method
Analysis indication Symptoms of Kjer – type optic atrophy
Analysis time Appointed individually
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics