Capillary Malformation-Arteriovenous Malformation (CM-AVM) Panel, Sequencing and Deletion/Duplication
Preferred test to detect capillary malformation-arteriovenous malformation (CM-AVM); use to assess for RASA1-associated CM-AVM1 and EPHB4-associated CM-AVM2.
Massively Parallel Sequencing/ Multiplex Ligation-dependent Probe Amplification
New York DOH Approval Status
Lavender (EDTA) or Yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 2 mL)
Serum or plasma; grossly hemolyzed or frozen specimens
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
EPHB4** (NM_004444), RASA1 (NM_002890)
** Deletion/duplication detection is not available for this gene.
|Component Test Code*||Component Chart Name||LOINC|
- CMAVM syndrome