Test Code: LEGHDS

Genes: MT-ND5 (1 genes)

Sample Type: 3 mL peripheral blood in EDTA (purple/pink top) tube

Method: Capture-based target enrichment and Next Generation Sequencing.

Turnaround Time: 21 Days

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 650

Description:
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.