Test Code: PNL300
RASopathy
Gene-Panel
The RASopathy Gene Panel is a targeted next-generation sequencing (NGS) panel that analyses 25 genes associated with the RAS-MAPK signalling pathway. This pathway plays a critical role in cell growth, differentiation, and development. Germline pathogenic variants in these genes result in a group of clinically overlapping developmental syndromes known as RASopathies.
These conditions share common features including craniofacial dysmorphism, congenital heart defects, hypertrophic cardiomyopathy, short stature, intellectual disability, cutaneous abnormalities (e.g., café-au-lait spots, lentigines), and an increased risk of certain malignancies.
These conditions share common features including craniofacial dysmorphism, congenital heart defects, hypertrophic cardiomyopathy, short stature, intellectual disability, cutaneous abnormalities (e.g., café-au-lait spots, lentigines), and an increased risk of certain malignancies.
Sample Type
Blood, Amniotic Fluid, Chorionic Villus Sampling
Turnaround Time
3-4 weeks days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
25 genes
BRAF
CBL
HRAS
KRAS
LZTR1
MAP2K1
MAP2K2
MAP4K4
MRAS
NF1
NRAS
PPP1CB
PTPN11
RAF1
RIT1
RRAS
RRAS2
RREB1
SHOC2
SOS1
SOS2
SPRED1
SPRED2
RASA2
A2ML1
Methodology
Capture-based target enrichment and Next Generation Sequencing.
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