Diagnosis of hemolytic anemia associated with pyruvate kinase deficiency (exons 3, 5, 7, 8, 10, 11 of the PKLR gene)

Pyruvate kinase (PK) deficiency leads to hereditary non-spherocytic hemolytic anemia. This is an autosomal recessive disease that develops due to homozygous and compound-heterozygous aberrations in the PKLR gene. Clinical manifestations of PK deficiency appear in childhood and include signs of chronic hemolysis: anemia of varying severity, jaundice of the skin and sclera, and enlargement of the spleen.

Within 11 days. The specified time does not include the day of biomaterial collection