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Home  /  Neurology   /  MERRF syndrome – Myoclonic epilepsy: MT-TK gene (m.8296A>G, m.8344A>G, m.8356T>C, m.8363G>A) – familial case
Neurology, Other methodologies

MERRF syndrome – Myoclonic epilepsy: MT-TK gene (m.8296A>G, m.8344A>G, m.8356T>C, m.8363G>A) – familial case

Speciality(ies) / Other Speciality(ies)

Neurology

Methodology

Sequencing

SNS Code

34717

OMIM

#545000

Gene Number

1

Test / Mutation List

MT-TK (m.8296A>G, m.8344A>G, m.8356T>C, m.8363G>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.

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