Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA)

Mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) is a rare disorder of oxidative phosphorylation that presents in childhood and is characterized by muscle weakness, normocytic anemia and lactic acidemia. Other features that have been described in affected individuals include microcephaly, micrognathia, high philtrum, high palate, mental retardation and growth hormone deficiency. Variability in clinical features has been described even within members of the same family.

Tests Available

Forms and Documents

Test Details

  • Mitochondrial genome large deletion testing
  • Confirmation of a clinical diagnosis
  • To assist in determining the most appropriate therapy, as the response to specific therapeutic modalities depends on the diagnosis
  • Targeted testing for a known familial variant
  • Prenatal diagnosis for known familial variants in nuclear genes in at-risk pregnancies
  • Genetic counseling


4 weeks
2-5 mL Blood - Lavender Top Tube


81465x1, 81479x1
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**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.


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