Acceptable DNA test for RASA1-related disorders. Confirm diagnosis in individuals with findings suggestive of capillary malformation-arteriovenous malformation (CM-AVM) syndrome or Parkes Weber syndrome (PKWS).
Polymerase Chain Reaction/Sequencing
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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: Approximately 70 percent.
Methodology: Bidirectional sequencing of the entire RASA1 coding region and intron-exon boundaries.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected
Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|2002731||RASA1 FGS Specimen|
|2002732||RASA1-Related Disorders Sequencing|
- Capillary Malformation-Arteriovenous Malformation Syndrome
- Parkes-Weber Syndrome
- RASA1 sequencing assay