Leber hereditary optic neuropathy (LHON)
Analysis ID 153
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Leber hereditary optic neuropathy (LHON)
OMIM 535000
Clinical information Leber hereditary optic neuropathy (LHON) is an inherited form of visual loss. Although this condition usually begins in the second decade of life, in rare cases it may start in the early childhood or in the adulthood. Males are more often affected than females. Vision loss results from the death of the cells located in optic nerves. Although central vision gradually improves in a small number of patients, in most cases the vision loss is profound and irreversible. Additionally, some patients with LHON develop features similar to multiple sclerosis.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes MTND1, COMPLEX I, SUBUNIT ND1; MTND4, COMPLEX I, SUBUNIT ND4; MTND6, COMPLEX I, SUBUNIT ND6;
Analysis description Analysis comprise testing of 3 mutations in the mtDNA: 3460GA, 11778GA, 14484TC.
Analysis indication Symptoms of Leber hereditary optic neuropathy.
Analysis time 3 - 4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics