List of diseases covered by
Hereditary Sideroblastic Anemia NGS panel
Gene | Condition |
ABCB7 | Anemia sideroblastic and spinocerebellar ataxia |
ALAS2 | Hereditary sideroblastic anemia |
GLRX5 | Sideroblastic anemia 3, pyridoxine-refractory |
HSPA9 | Anemia, sideroblastic, 4 |
PUS1 | Myopathy, lactic acidosis, and sideroblastic anemia 1 |
SLC19A2 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
SLC25A38 | Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive |
TRNT1 | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; Retinitis pigmentosa and erythrocytic microcytosis |
YARS2 | Myopathy, lactic acidosis, and sideroblastic anemia 2 |