Vascular Malformations Panel, Sequencing and Deletion/Duplication
Also known as: VASC PANEL
Use
This is a recommended test to confirm a clinical diagnosis of a hereditary vascular malformation disorder if no specific diagnosis is strongly suspected. Pathogenic variants in genes associated with vascular malformation can result in defects of blood vessels, leading to conditions such as fast- or slow-flow lesions, shunting, swelling, or skin findings. These disorders can cause potentially life-threatening conditions like hemorrhage, stroke, or heart failure.
Special Instructions
Counseling and informed consent are recommended for genetic testing. Consent forms are available online. The test is not New York state approved, and a Non-Permitted Laboratory Request Form must be submitted to the NYDOH prior to specimen collection if performed in New York.
Limitations
The test only detects variants within the coding regions and intron-exon boundaries of the targeted genes, with exclusions mentioned in the methodology section. It does not detect regulatory and deep intronic variants, nor does it provide precise breakpoints for large deletions or duplications. Additionally, the test cannot reliably identify low-level mosaic or somatic variants, gene conversion events, or complex inversions.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |