Classic view of this page
Arteriovenous malformation
Research Genetic test
Help
offered by
Laboratory of Human Molecular Genetics
GTR Test Accession: Help GTR000334305.2
INHERITED DISEASECANCERCARDIOVASCULAR ... View more
Last updated in GTR: 2015-12-10
View version history
Last annual review date for the lab: 2024-08-14 LinkOut
At a Glance
Conditions (1): Help
Cerebral arteriovenous malformation
Genes (1): Help
RASA1 (5q14.3)
Study description: Help
Mutation screens on (frozen) tissue samples by NGS
Recruitment status: Help
Currently open
Eligibility criteria: Help
Not provided
Methods (1): Help
Molecular Genetics - Mutation scanning of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Study Description
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Mutation screens on (frozen) tissue samples by NGS
View citations (3)
  • Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Revencu N, et al. Hum Mutat. 2008;29(7):959-65. doi:10.1002/humu.20746. PMID: 18446851.
  • Thiex R, Mulliken JB, Revencu N, Boon LM, Burrows PE, Cordisco M, Dwight Y, Smith ER, Vikkula M, Orbach DB. A novel association between RASA1 mutations and spinal arteriovenous anomalies. AJNR Am J Neuroradiol. 2010;31(4):775-9. doi:10.3174/ajnr.A1907. Epub 2009 Dec 10. PMID: 20007727.
  • Carr CW, Zimmerman HH, Martin CL, Vikkula M, Byrd AC, Abdul-Rahman OA. 5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C. Am J Med Genet A. 2011;155A(7):1640-5. doi:10.1002/ajmg.a.34059. Epub 2011 May 27. PMID: 21626678.
Offered by: Help
Laboratory of Human Molecular Genetics
Person responsible for the study: Help
Miikka Vikkula, PhD, MD, Lab Director
Study contact: Help
Miikka Vikkula, PhD, MD, Lab Director
Research contact policy: Help
Laboratory can only accept contact from health care providers. Patients/families interested in participating in a research study should discuss this option with their health care provider.
Recommended fields not provided:
Protocol number
Participation
Recruitment status: Help
Currently open
Consent form: Help
Not provided
Recommended fields not provided:
Eligibility criteria
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.