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RASA1-Related Disorders (RASA1) Deletion/Duplication (INACTIVE as of 05/15/17: Refer to 2007852)
2007830
Ordering Recommendation

This is a second tier test and REQUIRES PERMISSION from ARUP's Genetic Counselor (800-242-2787, x2141) before ordering. Preferred initial test is the sequencing and deletion/duplication test.

Mnemonic
RASA1 DD
Methodology
Polymerase Chain Reaction/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
Within 14 days
New York DOH Approval Status
This test is New York DOH approved.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Background Information for RASA1-Related Disorders (RASA1) Deletion/Duplication:
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 5 percent.
Methodology:
Multiplex Ligation-Dependent Probe Amplification (MLPA) to detect large RASA1 coding region deletions/duplications.
Analytical Sensitivity and Specificity:
unknown and 99 percent, respectively.
Limitations:
Diagnostic errors can occur due to rare sequence variations. Single base pair substitutions, small deletions/duplications, regulatory region mutations, and deep intronic mutations will not be detected. The breakpoints of large deletions/duplications will not be determined. Mutations in genes other than RASA1 are not evaluated. Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Components
Component Test Code*Component Chart NameLOINC
2007831RASA1 Disorders (RASA1) DelDup Specimen
2007832RASA1 Disorders (RASA1) DelDup Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • Capillary Malformation-Arteriovenous Malformation Syndrome
  • Parkes-Weber Syndrome
  • RASA-1 deletion/duplication assay