Vascular Malformations Panel, Sequencing and Deletion/Duplication, 14 Genes
2007384
Ordering Recommendation
Preferred 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 PANEL
Methodology
Massive Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
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



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS  
Note
 
CPT Code(s)
81321 (PTEN)
81323 (PTEN)
81405 x3 (BMPR2, ENG, SMAD4)
81406 x3 (BMPR2, ENG, SMAD4)
81479 x2
Components
Component Test Code*Component Chart Name
2007385Vascular Malformations Panel Specimen
2007388Vascular Malformations Panel 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
  • 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
  • 2002470 PTEN-Related Disorders (PTEN) Sequencing and 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 Assay
  • Vascular Malformations Next Gen Assay