Recommended test to confirm a clinical diagnosis of a hereditary vascular malformation disorder if no single specific diagnosis is strongly suspected.
Massively Parallel Sequencing
New York DOH Approval Status
Lavender or pink (EDTA) or yellow (ACD solution A or B).
Transport 3 mL whole blood. (Min: 2 mL)
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
Genes Tested: ACVRL1; AKT1; BMPR2; CCBE1; CCM2*; EIF2AK4; ELMO2; ENG*; EPHB4; FAT4; FLT4*; FOXC2; GATA2; GDF2; GJC2*; GLMN*; KCNK3; KRIT1; PDCD10; PIEZO1*; PTEN*; RASA1; SMAD4; SMAD9; SOX18*; STAMBP*; TEK; VEGFC
*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; see Additional Technical Information.
81321; 81323; 81405; 81406; 81479
|Component Test Code*||Component Chart Name||LOINC|
|2007385||Vascular Malformations Panel Specimen|
|2007388||Vascular Malformations Panel Interp|
- 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 intraosseous (VMPI, VMOS)
- Primary Lymphedema with Myelodysplasia
- PTEN haramatoma tumor syndrome
- PTEN-related disorders
- PTEN-related Proteus syndrome
- Pulmonary Arterial Hypertension (PAH)
- RASA1-related disorders
- Van Maldergem syndrome (VMLDS)
- Vascular Malformation, Primary Intraosseous (VMPI, VMOS)