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LEGHDS
Leigh's Disease -3 mutation (T12706C, A13084T, G13513A)
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.
Metabolic Genetics