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

Category:

Scientific Background

RASopathies are a group of rare genetic disorders affecting the RAS/MAPK pathway, a signaling pathway responsible for cellular processes such as proliferation, survival and metabolism and it is vital for normal development. RASopathies are one of the most known groups of malformation syndromes and they affect approximately 1 in 1,000 individuals.

 

Who is this test for?

This test is applicable for individuals with family history of RASopathies and related syndromes, as well as for infants with several malformation characteristics or developmental delays. Because a lot of times clinical symptoms and phenotypical characteristics overlap between syndromes, genetic testing can provide valuable information to the doctor to enable accurate diagnosis by confirming or excluding a suspected syndrome and improve prognosis. Genetic testing can also help the doctor evaluate the best management plan as well as inform the patient for recurrence-risk.

 

References

  • Hebron, K. E., Hernandez, E. R., & Yohe, M. E. (2022). The RASopathies: from pathogenetics to therapeutics. Disease Models &Amp; Mechanisms, 15(2). https://doi.org/10.1242/dmm.049107
  • Rauen KA. The RASopathies. Annu Rev Genomics Hum Genet. 2013;14:355-69. doi: 10.1146/annurev-genom-091212-153523. Epub 2013 Jul 15. PMID: 23875798; PMCID: PMC4115674.

 

How many genes are tested in this panel?

30 genes

 

What diseases are associated with the genes tested in this panel?

  • Cardio-Facio-Cutaneous Syndrome
  • Costello Syndrome
  • Neurofibromatosis Type 1
  • Noonan Syndrome

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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