Capillary Malformation-Arteriovenous Malformation (CM-AVM) Panel, Sequencing and Deletion/Duplication

Casandra

Casandra Test Code AR70294Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3003634CPT Code 81479

Capillary Malformation-Arteriovenous Malformation (CM-AVM) Panel, Sequencing and Deletion/Duplication

Also known as: CMAVM NGS

Clinical Use

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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

Specimens from New York clients will be sent to a New York state-approved laboratory. Informed consent for genetic testing is required for patients in New York. A Patient History Form must be submitted with the order.

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.

Test Details