Disorders

Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1

Synonym(s): Mitochondrial Myopathy and Sideroblastic Anemia, MLASA1

Gene	Locus	Protein
PUS1	12q24	tRNA pseudouridine synthase A

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
GeneDx - Gaithersburg, MD, USA
Medical Neurogenetics - Atlanta, GA, USA
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.