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Home  /  Ophthalmology   /  LHON syndrome – Leber hereditary optic atrophy: MT-ND1 (m.3460G>A), MT-ND4 (m.11778G>A), MT-ND6 (m.14484T>C) genes – familial case

LHON syndrome – Leber hereditary optic atrophy: MT-ND1 (m.3460G>A), MT-ND4 (m.11778G>A), MT-ND6 (m.14484T>C) genes – familial case

Speciality(ies) / Other Speciality(ies)

Ophthalmology

Methodology

Sequencing

SNS Code

34713

OMIM
Gene Number

3

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.