Pyruvate Kinase Deficiency of Red Cells (PKLR) Targeted Testing

AKA: Pyruvate Kinase Deficiency of Erythrocyte

Short Name: PKLR Targeted

Pyruvate kinase (PK) deficiency of red cells is an autosomal recessive condition caused by a pathogenic variant in the PKLR gene and is the most frequent enzyme abnormality of the glycolytic pathway causing hereditary non-spherocytic hemolytic anemia. 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 has been identified in the Amish population. This targeted test will specifically analyze the c.1436G>A variant.

CPT Code: 81403

Turn-Around Time: 1-2 weeks