LHON syndrome – Leber hereditary optic atrophy: MT-ND1 (m.3460G>A), MT-ND4 (m.11778G>A), MT-ND6 (m.14484T>C) genes – index case
Speciality(ies) / Other Speciality(ies)
Ophthalmology
Test / Mutation List
MT-ND1 (m.3460G>A), MT-ND4 (m.11778G>A), MT-ND6 (m.14484T>C)
TAT
2 to 4 weeks
Sample Type
Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.