Pyruvate kinase (PK) deficiency of erythrocyte is the most frequent enzyme abnormality of the glycolytic pathway causing hereditary non-spherocytic hemolytic anemia. The disease is transmitted as an autosomal recessive trait. The severity of hemolysis is highly variable, ranging from very mild or fully compensated forms to life-threatening neonatal anemia necessitating exchange transfusions. The c.1436G>A (p.Arg479His) variant in exon 9 of the PKLR gene is the pathogenic variant found in the Amish population. This targeted test will specifically analyze the c.1436G>A variant.
1 - 2 weeks