Vascular Malformations Sequencing, 14 Genes
2007390
Ordering Recommendation
Acceptable DNA test to confirm clinical diagnosis of genetic related vascular malformations (ie, capillary malformation-arteriovenous malformation syndrome, cerebral cavernous malformation, glomuvenous malformation, hereditary hemorrhagic telangiectasia, juvenile polyposis syndrome/hereditary hemorrhagic telangiectasia, multiple cutaneous and mucosal venous malformations, Parkes Weber syndrome, PTEN-related Proteus syndrome).
Mnemonic
VASC SEQ
Methodology
Massive Parallel Sequencing
Performed
Varies
Reported
10-12 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.





See Compliance Statement C: www.aruplab.com/CS
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)
81321 (PTEN)
81406 x3  (BMPR2, ENG, SMAD4)
81479
Components
Component Test Code*Component Chart Name
2007391Vasc Malformations Sequencing Specimen
2007392Vascular Malformations Sequencing 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
  • 002470 PTEN-Related Disorders (PTEN) Sequencing and Deletion/Duplication
  • 0051348 Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Deletion/Duplication
  • 0051382 Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion Duplication
  • 0051510 Juvenile Polyposis (SMAD4) Sequencing
  • 0051575 Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing
  • 0051789 Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication
  • 2001976 Juvenile Polyposis (SMAD4) Deletion/Duplication
  • 2002722 PTEN-Related Disorders (PTEN) Sequencing
  • 2002726 PTEN-Related Disorders (PTEN) Deletion/Duplication
  • 2002730 RASA1-Related Disorders (RASA1) Sequencing
  • 2003152 Cerebral Cavernous Malformation (CCM1) Sequencing
  • 2003156 Cerebral Cavernous Malformation (CCM2) Sequencing
  • 2003160 Cerebral Cavernous Malformation (CCM3) Sequencing
  • 2003164 Cerebral Cavernous Malformation (CCM1) Sequencing with Reflex to (CCM1, CCM2 and CCM3) Delet
  • 2003172 Cerebral Cavernous Malformation (CCM1, CCM2, and CCM3) Deletion/Duplication
  • 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
  • Vascular Malformation Next Generation Sequencing Assay
  • Vascular Malformations Next Gen Sequencing Assay