2007384
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Vascular Malformations Panel, Sequencing and Deletion/Duplication

VASC PANEL
Example Reports
Negative
Positive

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Patient History for Vascular Malformations Syndrome Testing

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Informed Consent for Genetic Testing (Required for NY Patients)

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Additional Technical Information

Ordering Recommendation

Recommended test to confirm a clinical diagnosis of a hereditary vascular malformation disorder if no single specific diagnosis is strongly suspected.

New York DOH Approval Status

This test is not New York state approved.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

14-21 days

Reference Interval

Refer to report

Interpretive Data

Refer to report

Compliance Category

Laboratory Developed Test (LDT)

Note

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.

When testing cord blood specimens, the presence of maternal cell contamination (MCC) is possible, which may impact result interpretation. If clinically warranted, testing for MCC is available, at a charge, through ARUP Laboratories.

Hotline History

N/A

CPT Codes

81321; 81323; 81405; 81406; 81479

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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 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)
Vascular Malformations Panel, Sequencing and Deletion/Duplication