Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Gene Panel, Varies

Casandra

Casandra Test Code MC58346Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID HHTGGCPT Codes 81406, 81479

Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Gene Panel, Varies

Clinical Use

Use

Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary hemorrhagic telangiectasia (HHT), cerebral cavernous malformation (CCM), capillary malformation-arteriovenous malformation syndrome (CV-AVM), or other hereditary vascular malformation syndromes of germline origin. Establishing a diagnosis of HHT, CCM, CM-AVM, or other hereditary vascular malformation syndromes of germline origin.

Special Instructions

A previous bone marrow transplant from an allogenic donor will interfere with testing. For information about testing patients who have received a bone marrow transplant, call 800-533-1710. Insurance preauthorization is available for this testing; forms are available. Patient financial assistance may be available to those who qualify.

Limitations

Next-generation sequencing may not detect all types of genomic variants. In rare cases, false-negative or false-positive results may occur. There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis due to technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. This test is validated to detect 95% of deletions up to 75 base pairs (bp) and insertions up to 47 bp. Some aspects of the test may not perform as well when using saliva or blood spot samples compared to whole blood.

Test Details

New York Approved