VHL Full Gene Analysis

Casandra

Casandra Test Code MC84382Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID VHLZZCPT Code 81404

VHL Full Gene Analysis

Clinical Use

Use

This test evaluates individuals with a personal or family history that suggests Von Hippel-Lindau (VHL) syndrome. It helps establish a diagnosis of VHL and allows for targeted cancer surveillance based on associated risks. The test identifies genetic variants linked to increased VHL syndrome risk, facilitating predictive testing for at-risk family members.

Special Instructions

The test is not designed for assessing hereditary erythrocytosis or polycythemia. For these conditions, order the Hereditary Erythrocytosis Gene Panel. Testing requires informed consent documentation for New York clients. If performed because of a clinically significant family history, testing an affected family member first can lead to more informative results.

Limitations

There are regions in genes that may not be effectively evaluated due to technical limitations like regions of homology and high GC content. Next-generation sequencing might not detect all genomic variants; false-negative or false-positive results are possible. The test may not differentiate between somatic and germline variants or detect low mosaicism levels. If a patient has had an allogeneic hematopoietic stem cell transplant or a recent blood transfusion, the presence of donor DNA might lead to inaccurate results. Deletion and duplication analysis might not achieve single exon resolution due to sequence coverage limitations or genomic complexity.

Test Details

New York Approved