IRIDA SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The IRIDA (Iron-Refractory Iron Deficiency Anemia) Syndrome panel analyzes two genes associated with this rare microcytic hypochromic anemia, resistant to oral iron treatment and characterized by low hepcidin levels and intestinal malabsorption of the mineral. This autosomal recessive disorder is caused by mutations affecting the iron regulation pathway mediated by TMPRSS6 and ACVR1, which are essential for controlling hepatic hepcidin expression. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, the panel allows for the study of the primary genetic causes of this disorder. Some of the genes included in this panel are TMPRSS6 and ACVR1.
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