SIDEROBLASTIC ANEMIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 9 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Sideroblastic Anemia Panel studies nine genes associated with this group of anemias characterized by ineffective erythropoiesis and the presence of ring sideroblasts in the bone marrow, resulting from mitochondrial iron accumulation. Hereditary forms can present from birth or in childhood, with hypochromic anemia, iron overload, and progressive liver dysfunction. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel allows the study of genes involved in heme synthesis, mitochondrial iron transport, and mitochondrial translation. Some of the genes included in this panel are: ALAS2, ABCB7, GLRX5, HSPA9, PUS1, SLC19A2, SLC25A38, TRNT1, and YARS2. The complete list of genes can be obtained by contacting Genotica.
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