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Vascular Malformations Panel, Sequencing and Deletion/Duplication
2007384
Ordering Recommendation

Preferred DNA test to confirm clinical diagnosis of a genetic-related vascular malformation disorder, such as a capillary malformation, arteriovenous malformation, cerebral cavernous malformation, glomuvenous malformation, hereditary hemorrhagic telangiectasia, multiple cutaneous and mucosal venous malformations, pulmonary arterial hypertension, or hereditary lymphedema syndrome, if no single specific diagnosis is strongly suspected.

Genes tested: ACVRL1, AKT1**, BMPR2, CAV1, CCBE1, CCM2, EIF2AK4**, ELMO2**, ENG, EPHB4**, FAT4**, FLT4, FOXC2, GATA2**, GDF2, GJC2, GLMN, KCNK3, KRIT1, PDCD10, PIEZO1**, PIK3CA***, PTEN, RASA1, SMAD4, SMAD9**, SOX18***, STAMBP**, TEK, VEGFC**
 
** Deletion/duplication detection is not available for this gene.
*** One or more exons are not covered by sequencing, and deletion/duplication detection is not available for this gene; see Additional Technical Information.

Mnemonic
VASC PANEL
Methodology
Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
Performed
Varies
Reported
3-6 weeks
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
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: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
GENES TESTED: ACVRL1, AKT1**, BMPR2, CAV1, CCBE1, CCM2, EIF2AK4**, ELMO2**, ENG, EPHB4**, FAT4**, FLT4, FOXC2, GATA2**, GDF2, GJC2, GLMN, KCNK3, KRIT1, PDCD10, PIEZO1**, PIK3CA***, PTEN, RASA1, SMAD4, SMAD9**, SOX18***, STAMBP**, TEK, VEGFC**
 
** Deletion/duplication detection is not available for this gene.
*** One or more exons are not covered by sequencing, and deletion/duplication detection is not available for this gene; see Additional Technical Information.
Hotline History
View Hotline History
CPT Code(s)
81321; 81323; 81405; 81406; 81479
Components
Component Test Code*Component Chart NameLOINC
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
  • Capillary Malformation-Arteriovenous Malformation syndrome (CM-AVM)
  • Cerebral Cavernous Malformation (CCM)
  • Combined Juvenile Polyposis syndrome/Hereditary Hemorrhagic Telangiectasia (JPS/HHT)
  • Dehydrated Hereditary Stomatocytosis with or without Pseudohyperkalemia and/or Perinatal Edema
  • Emberger syndrome
  • GATA2 Deficiency
  • Glomuvenous Malformation (GVM)
  • Hemangioma, Intraosseus
  • Hennekam Lymphangiectasia-Lymphedema syndrome (HKLLS)
  • Hereditary Hemorrhagic Telangiectasia (HHT)
  • Hereditary Lymphedema
  • Hereditary Xerocytosis
  • Hypomyelinating Leukodystrophy 2 (HLD2)
  • Hypotrichosis-lymphedema-telangiectasia syndrome
  • Lymphedema-Distichiasis syndrome
  • Microcephaly-Capillary Malformation syndrome (MIC-CAP)
  • Milroy Congenital Lymphedema
  • Multiple Cutaneous and Mucosal Venous Malformations (VMCM)
  • Parkes Weber syndrome (PKWS)
  • Pelizaeus-Merzbacher-Like Disease 1 (PMLD1)
  • PIK3CA-related Segmental Overgrowth
  • Primary Lymphedema with Myelodysplasia
  • PTEN-related disorders
  • PTEN-related Proteus syndrome
  • Pulmonary Arterial Hypertension (PAH)
  • RASA1-related disorders
  • Van Maldergem syndrome (VMLDS)
  • Vascular Malformation, Primary Intraosseous (VMPI, VMOS)