| 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: Unknown.
Inheritance: Autosomal dominant; approximately one-third are de novo.
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 & 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.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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| CPT Code(s): |
83891 Isolation; 83898 x30 Amplification; 83904 x30 Sequencing; 83909 Capillary electrophoresis, 83912 Interpretation and report. Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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Cross References: |
Capillary Malformation-Arteriovenous Malformation Syndrome (RASA1-Related Disorders (RASA1) Sequencing)
, Parkes-Weber Syndrome (RASA1-Related Disorders (RASA1) Sequencing)
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