BLACKFAN-DIAMOND ANEMIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 21 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Diamond-Blackfan Anemia (DBA) panel studies the 21 genes associated with this rare congenital anemia characterized by pure erythroid aplasia, macrocytosis, craniofacial malformations, and an increased risk of hematologic malignancies. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, genes encoding ribosomal proteins involved in ribosome biogenesis and translation regulation are analyzed. This study allows for the identification of mutations in genes such as RPS19, RPL5, RPS24, RPL11, RPS26, and GATA1, among others, which explain the altered erythroid production and the observed clinical heterogeneity. Its use is key to confirming the diagnosis, differentiating it from other congenital anemias, guiding treatment with corticosteroids or bone marrow transplantation, and providing genetic counseling for families.
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