MITOCHONDRIAL ENCEPHALOMYOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (MELAS)

MELAS is a multisystem disease caused by mutations in mitochondrial DNA. The most common mutation that accounts for 80% of the MELAS cases is 3243A>G in the MTTL1 gene. Due to genetic and clinical heterogeneity and multisystem dysfunction, we highly recommend the screening test for a patient suspected of MELAS, unless a specific mutation has already been detected in the family.

Reasons for Referral:

• To confirm the diagnosis of MELAS.
• Family history
• Asymptomatic carrier testing if a specific mutation in the family is known

Testing Methodology:

Please refer to Mitochondrial DNA Screen (Point Mutations and Deletions)

Medical Genetics Laboratories
Baylor College of Medicine · Houston, TX 77030
Phone: 1-800-411-GENE · Fax: 713-798-2787
E-mail: