Hereditary spherocytosis refers to a group of heterogenous disorders that are characterized by the presence of spherical-shaped erythrocytes (spherocytes) on the peripheral blood smear. The disorders are characterized clinically by anemia, jaundice and splenomegaly, with variable severity. Type 4 spherocytosis, inherited in primarily an autosomal dominant form (although some variants are autosomal recessive) is caused by variants in the SLC4A1 gene. The autosomal dominant c.2422C>T (p.Arg808Cys) variant is the pathogenic variant found in Old Order Amish patients. This targeted test is designed to specifically analyze the c.2422C>T variant.
1 - 2 weeks