Title Image

Blog

Home  /  Neurology   /  MELAS syndrome – Mitochondrial encephalomyopathy: MT-TL1 (m.3243A>G, m.3244G>A, m.3252A>G, m.3256C>T, m.3271T>C, m.3291T>C) and MT-ND5 genes (m.13513G>A)

MELAS syndrome – Mitochondrial encephalomyopathy: MT-TL1 (m.3243A>G, m.3244G>A, m.3252A>G, m.3256C>T, m.3271T>C, m.3291T>C) and MT-ND5 genes (m.13513G>A)

Speciality(ies) / Other Speciality(ies)

Neurology

Methodology

Sequencing

SNS Code

34900

OMIM
Gene Number

1

Test / Mutation List

MT-TL1 (m.3243A>G, m.3244G>A, m.3252A>G, m.3256C>T, m.3271T>C, m.3291T>C), MT-ND5 (m.13513G>A)

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.