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.
Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
New York DOH Approval Status
Lavender (EDTA) or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Submit the Patient History Form for Vascular Malformations with the Electronic Packing List.
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, 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.
81309; 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 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)