#ExistInterpData>Background Information for RASA1Related Disorders (RASA1) Sequencing:
Characteristics: Multifocal, randomly distributed, capillary malformations (CM) that may be associated with a fast-flow lesion (arteriovenous malformations [AVM] or arteriovenous fistula). Fast-flow lesions in the skin, muscle, bone, internal organs or brain can cause life-threatening complications such as bleeding, congestive heart failure, or neurological consequences. Capillary malformation-arteriovenous malformation syndrome (CM-AVM) and Parkes-Weber syndrome may be caused by RASA1 mutations.
Incidence: Estimated at 1 in 100,000.
Inheritance: Autosomal dominant; approximately one-third are de novo.
Penetrance: 90-95 percent.
Cause: Pathogenic RASA1 gene mutations.
Clinical Sensitivity: 75 percent for CM-AVM based on a single study; unknown for other conditions.
Methodology: Bidirectional sequencing of the entire RASA1 coding region and intron-exon boundaries.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Rare diagnostic errors can occur due to primer site mutations. Regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
See Compliance Statement C: www.aruplab.com/CS
||Capillary Malformation-Arteriovenous Malformation Syndrome (RASA1-Related Disorders (RASA1) Sequencing)
, Parkes-Weber Syndrome (RASA1-Related Disorders (RASA1) Sequencing)