Ordering Recommendation

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).

Mnemonic
RASA1 FGS
Methodology

Polymerase Chain Reaction/Sequencing

Performed

Varies

Reported

21-28 days

New York DOH Approval Status
This test is New York DOH approved.
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
Interpretive Data

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.

Note
Hotline History
N/A
CPT Codes

81479

Components
Component Test Code* Component Chart Name LOINC
2002731 RASA1 FGS Specimen
2002732 RASA1-Related Disorders Sequencing
* 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
  • RASA1 sequencing assay
RASA1-Related Disorders (RASA1) Sequencing