PEDIATRIC CANCER: CLINICAL EXOME PANEL (Sec. & CNVs) – 168 genes

The Pediatric Cancer Panel is designed for the genetic study of major inherited cancers and tumor predisposition syndromes affecting children and adolescents. This analysis identifies pathogenic variants responsible for a wide range of solid, hematological, and central nervous system tumors, providing an essential diagnostic tool for early detection, therapeutic guidance, and clinical follow-up planning. The panel includes genes related to brain and central nervous system tumors (such as medulloblastoma, gliomas, ependymomas, and astrocytomas), kidney and liver tumors (nephroblastoma, hepatoblastoma, and hepatocellular carcinoma), sarcomas and soft tissue tumors (Ewing sarcoma, rhabdomyosarcoma, osteosarcoma, and chondrosarcoma), neuroendocrine and sympathetic nervous system tumors (neuroblastoma, pheochromocytoma, and paraganglioma), as well as childhood leukemias and lymphomas (lymphoblastic and myeloid). It also covers the main hereditary cancer predisposition syndromes in childhood, such as Li-Fraumeni syndrome (TP53), Von Hippel-Lindau (VHL), Neurofibromatosis type 1 and 2 (NF1, NF2), Gorlin syndrome (PTCH1, SUFU), MEN1 and MEN2 (MEN1, RET), Beckwith-Wiedemann syndrome (CDKN1C), Cowden syndrome (PTEN), DICER1 syndrome, tumor predisposition syndromes due to defective DNA repair (ATM, BLM, WRN, BRCA2, FANCA), and other disorders that increase the risk of childhood cancer. The study offers a precise molecular diagnostic tool that allows for estimating familial risk, identifying carriers, optimizing surveillance strategies, and implementing preventive measures or targeted therapies. Genes analyzed: TP53, RB1, PTCH1, SUFU, DICER1, VHL, NF1, NF2, PTEN, SDHB, SDHD, PHOX2B, RUNX1, GATA2, ETV6, PAX5, WT1, and others. You can consult the complete list of analyzed genes by contacting Genotica.