Genetic TestsMelas Syndrome (A3243G, T3271C, A3252G)

• Test Name: Melas Syndrome (A3243G, T3271C, A3252G)
• Test Code: 4624

• “MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES” (OMIM #: 540000) || Gene: MTTL1 (OMIM #: 590050)

• Mitochondrial Myopathy
• A3243G Mutation
• T3271C Mutation
• A3252G Mutation

• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 3 weeks

• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia

• Neurogenetics