CONGENITAL DYSERYTHROPOIETIC ANEMIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 8 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Congenital Dyserythropoietic Anemia (CDA) panel analyzes eight genes involved in this heterogeneous group of inherited anemias characterized by ineffective erythropoiesis, medullary erythroid dysplasia, and anemia of varying severity. These conditions result from defects in the maturation and nuclear division of erythroid precursors, leading to abnormal erythrocytes and signs of compensatory hemolysis. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, the panel allows for the study of genes related to cell cycle regulation, iron metabolism, and erythroid nuclear membrane stability. Some of the genes included in this panel are ALAS2, C15orf41, CDAN1, GATA1, KIF23, KLF1, LPIN2, and SEC23B, alterations in which explain the main subtypes of CDA (types I, II, and III). You can consult the complete list of genes by contacting Genotica.
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