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

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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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