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.

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.
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 Category

Laboratory Developed Test (LDT)

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
N/A
CPT Codes

81309; 81321; 81323; 81405; 81406; 81479

Components
Component Test Code* Component Chart Name LOINC
2007385 Vascular Malformations Panel Specimen
2007388 Vascular 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)
Vascular Malformations Panel, Sequencing and Deletion/Duplication