Ventrilia: Rasopathies

Synonyms: -

Material:

Buccal swab

TAT:

2-4 weeks

Method:

NGS

Overview

RASopathies are a group of rare genetic disorders affecting the RAS/MAPK pathway, a signalling 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.

Ventrilia: Rasopathies

30 Gene(s)*

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

Who is this test for

What diseases are associated with the genes tested in this panel

References

Created by

Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

Last Update : 01.10.2026

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