Vascular Malformations Sequencing, 14 Genes
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).
Massive Parallel Sequencing
10-12 weeks
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory.
Specimen Required
Patient Preparation
Lavender (EDTA) or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Unacceptable Conditions
Submit the Patient History Form for Vascular Malformations with the Electronic Packing List.  
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

See Compliance Statement C:
CPT Code(s)
81321 (PTEN)
81406 x3 (BMPR2, ENG, SMAD4)
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, contact interface support at
Cross References
  • 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