Test Code: LEGHDS
Leigh's Disease -3 mutation (T12706C, A13084T, G13513A)
Metabolic Genetics
A genetically heterogeneous mitochondrial neurodegenerative disorder. Tests for three common mutations or genes frequently implicated in its pathogenesis. Test detects m.12706T>C, m.13084A>T and m.13513G>A in the MT-ND5 gene strongly linked to Leigh syndrome and MELAS/Leigh overlap syndromes.
Sample Type
3 mL peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
21 Days days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
1 genes
MT-ND5
Methodology
Capture-based target enrichment and Next Generation Sequencing.
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