CM-AVM; CMAVM; GAP; PKWS; RASA; RASGAP; p120; p120GAP; p120RASGAP
The RASA1 gene is associated with autosomal dominant capillary malformation-arteriovenous malformations (CM-AVM)(MedGen UID: 334007) and Parkes Weber syndrome (MedGen UID: 442305).
Order this gene as a single gene test.
Invitae tests that include this gene:
An estimated 70% of CM-AVM is caused by pathogenic variants identified in the RASA1 gene.
The RASA1 gene encodes p120-RasGAP protein that is part of GAP1 family of GTPase-activiating proteins. RASA1 acts as a negative regulator of the RAS/MAPK signalling pathway to control cell growth and division. RASA1 protein is crucial for normal development of the vascular system.
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.
Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|