Capillary Malformation-Arteriovenous Malformation (CM-AVM) Panel, Sequencing and Deletion/Duplication
Also known as: CMAVM NGS
Use
The Capillary Malformation-Arteriovenous Malformation (CM-AVM) Panel is designed to detect genetic variants associated with capillary malformations and arteriovenous malformations. These vascular anomalies can lead to life-threatening complications such as bleeding, congestive heart failure, or neurological consequences due to fast-flow lesions in the skin, muscle, bone, or central nervous system. The panel focuses on detecting variants in the EPHB4 and RASA1 genes, which are associated with CM-AVM types 1 and 2, respectively.
Special Instructions
Not provided.
Limitations
The test may not exclude a diagnosis of CM-AVM syndrome entirely. Variants within non-coding regions and deep intronic variants are undetectable with this method. The test does not determine precise breakpoints for large deletions or duplications and does not aim to detect low-level mosaic variants or somatic mutations. There may be reduced sensitivity for deletions or duplications smaller than three exons. Pseudogenes, repetitive, or homologous regions may cause technical limitations, resulting in rare sequence variation diagnostic errors.
Methodology
NGS (Targeted)
Biomarkers
EPHB4, RASA1
Gene
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
3 mL
Container
Lavender (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 | Ambient: 72 hours; New York State Clients: 48 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant