INHERITED ANEMIAS GLOBAL: CLINICAL EXOME PANEL (Sec. & CNVs) – 268 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Global Hereditary Anemias Panel includes 268 genes associated with congenital anemias of diverse etiologies, encompassing hemolytic, megaloblastic, dyserythropoietic, sideroblastic, and hypoproliferative anemias, as well as bone marrow failure syndromes such as Fanconi and Diamond-Blackfan. Using next-generation sequencing (NGS) with analysis of SNVs, indels, and CNVs, this study evaluates genes related to erythropoiesis, hemoglobin synthesis, erythrocyte membrane structure, iron metabolism, heme synthesis, and DNA repair. It allows for precise etiological diagnosis in patients with congenital or refractory anemia, guides treatment (targeted supplementation, transplantation, or gene therapy), and provides family genetic counseling. Examples of included genes: SLC4A1, EPB41, PKLR, G6PD, ALAS2, SEC23B, FANCA, HBB, HBA1, MMACHC, RPS19, among others. You can consult the complete list of genes by contacting Genotica.
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