SCIENTIFIC BACKGROUND
AKT3, BRAF, CBL, CCND2, EPHB4, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NF2, NRAS, PIK3CA, PIK3R2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SASH1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, STAMBP
Scientific Background
RASopathies are a group of genetic conditions that affect the RAS-MAPK pathways and lead to developmental syndromes.
RASopathies related diseases include: Cardio-Facio-Cutaneous Syndrome, Costello Syndrome, Legius Syndrome, Neurofibromatosis Type 1, Noonan Syndrome, Noonan with multiple lentigines
Who is this test for?
How many genes are tested in this panel?
30 genes
GENES
AKT3, BRAF, CBL, CCND2, EPHB4, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NF2, NRAS, PIK3CA, PIK3R2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SASH1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, STAMBP
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