HEREDITARY LEUKEMIA AND MYELODYSPLASTIC SYNDROMES: CLINICAL EXOME PANEL (Sec. & CNVs) – 81 genes

The Hereditary Leukemia and Myelodysplastic Syndromes Panel is designed for the genetic study of congenital and familial hematological disorders that predispose to the development of myelodysplastic syndromes (MDS) and acute leukemias (AML, ALL). These conditions include hematopoietic disorders, bone marrow failure, familial pancytopenias, hereditary thrombocytopenias, and DNA repair syndromes. The analysis detects germline mutations in genes involved in the regulation of hematopoietic differentiation (RUNX1, CEBPA, ETV6, GATA2), DNA repair and genomic stability (BRCA2, FANCA, DKC1, ERCC6L2, RTEL1), and epigenetic and cell signaling pathways (DNMT3A, TET2, ASXL1, TP53, JAK2, KRAS, NRAS). Identifying pathogenic variants allows for accurate diagnosis, assessment of the risk of progression to leukemia, guidance in treatment selection, and monitoring of at-risk family members. Genes analyzed: RUNX1, GATA2, CEBPA, ETV6, DNMT3A, TET2, TP53, ASXL1, JAK2, BRCA2, FANCA, ERCC6L2, RTEL1, NBN, SAMD9, SBDS, and others. For a complete list of analyzed genes, please contact Genotica.