NEUROFIBROMATOSIS / SCHWANNOMATOSIS: CLINICAL EXOME PANEL (Sec. & CNVs) – 16 genes

The Neurofibromatosis and Schwannomatosis Panel analyzes 16 genes and allows for the detection of genetic variants responsible for the main neurocutaneous syndromes with a predisposition to tumors of the peripheral and central nervous system, such as neurofibromas, schwannomas, meningiomas, and optic gliomas. These disorders are associated with alterations in genes that regulate cell growth and differentiation, especially in the RAS/MAPK and mTOR pathways. The included genes encompass the main ones involved in neurofibromatosis type 1 and 2 (NF1, NF2), as well as those associated with familial and sporadic schwannomatosis (SMARCB1, LZTR1), and other tumor phenotype-modifying genes such as SPRED1, RAF1, TSC1, TSC2, and PRKAR1A. Genetic testing allows for a precise differential diagnosis, facilitates personalized clinical follow-up, and detects asymptomatic carriers in affected families. Genes analyzed: NF1, NF2, LZTR1, SMARCB1, SPRED1, RAF1, TSC1, TSC2, PRKAR1A, PTPN11, CABIN1, KIT, KITLG, COQ6, CCND1, VHL. You can consult the complete list of genes analyzed by contacting Genotica.