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Home  /  Neurology   /  Leigh/NARP syndrome – Neuropathy, Ataxia, and Retinitis: MT-ATP6 gene (m.8993T>G, m.8993T>C) – familial case
Neurology, Other methodologies

Leigh/NARP syndrome – Neuropathy, Ataxia, and Retinitis: MT-ATP6 gene (m.8993T>G, m.8993T>C) – familial case

Speciality(ies) / Other Speciality(ies)

Neurology

Methodology

Sequencing

SNS Code

34720

OMIM

#551500

Gene Number

1

Test / Mutation List

MT-ATP6 (m.8993T>G, m.8993T>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.

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