Hereditary Hemolytic Anemia: Clinical Exome Panel (Sec. & CNVs) – 54 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Hereditary Hemolytic Anemia panel studies 54 genes associated with congenital defects that cause premature destruction of red blood cells, with jaundice, splenomegaly, reticulocytosis, and chronic anemia of varying severity. These pathologies include enzyme abnormalities, red blood cell membrane defects, and hemoglobin disorders. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the analysis of genes related to red blood cell glycolysis, the pentose phosphate pathway, cytoskeleton structure, and ion transport. Some of the genes included in this panel are: SLC4A1, EPB41, PKLR, G6PD, ALAS2, ANK1, SPTA1, SPTB, UGT1A1, and RHAG, among others. This analysis covers a range of conditions, from spherocytic and elliptocytic anemias to enzyme disorders and non-spherocytic hemolytic anemias. You can consult the complete list of genes by contacting Genotica.
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