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Vascular Malformations Deletion/Duplication, 14 Genes (Refer to 2007384)
2007380
Ordering Recommendation
Mnemonic
VASC DD
Methodology
Exonic Oligonucleotide-based CGH Microarray
Performed
Varies
Reported
3-4 weeks
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA) or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
Submit the Patient History Form for Vascular Malformations with the Electronic Packing List. 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Refer to report

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.

Note
CPT Code(s)
81323; 81405 x3 (BMPR2, ENG, SMAD4)
81479
Components
Component Test Code*Component Chart NameLOINC
2007381Vascular Malformations Del/Dup Specimen
2007382Vascular Malformations Del/Dup 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
  • 2003405 Pulmonary Arterial Hypertension (BMPR2) Sequencing and Deletion/Duplication
  • 2007852 RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication
  • 2009326 Cerebral Cavernous Malformation (CCM) Panel, Sequencing and Deletion/Duplication, 3 Genes
  • 2010015 Telangiectasia Syndrome (BMP9/GDF2) Sequencing
  • ACVRL1/ALK1, BMP9/GDF2, BMPR2, CAV1, CCM1/KRIT1, CCM2, CCM3/PDCD10, ENG, GLMN, KCNK3, PTEN, RASA1
  • SMAD4, TEK/TIE2