MEGALOBLASTIC ANEMIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 13 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Megaloblastic Anemia panel analyzes 13 genes involved in congenital defects of vitamin B12 (cobalamin) and folic acid metabolism, which are responsible for ineffective erythropoiesis with macrocytosis, neutropenia, and neurological or gastrointestinal abnormalities. These anemias are characterized by the presence of erythroblasts with immature nuclei and mature cytoplasm, reflecting a dissociation in DNA synthesis. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows the study of genes involved in intestinal vitamin B12 absorption, transport, and conversion to active cofactors. Some of the genes included in this panel are: AMN, CUBN, DHFR, GIF, LMBRD1, MMACHC, MMADHC, MTR, SLC19A1, and TCN2, among others. You can consult the complete list of genes by contacting Genotica.
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