von Willebrand Disease, VWF and GP1BA Genes, Next-Generation Sequencing, Varies

Casandra

Casandra Test Code MC16154Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID GNVWDCPT Codes 81265, 81408, 81479, 88233, 88235, 88240

von Willebrand Disease, VWF and GP1BA Genes, Next-Generation Sequencing, Varies

Clinical Use

Use

This test is useful for evaluating von Willebrand disease (VWD) and platelet-type von Willebrand disease in patients with a personal or family history suggestive of VWD. It assists in confirming diagnoses by identifying known or suspected disease-causing alterations in the VWF or GP1BA genes. The test also determines the disease-causing alterations for genetic counseling purposes, allows subtyping of VWD, and provides prognosis and risk assessment based on genotype-phenotype correlations. Carrier testing is also available for close family members of an individual with VWD or platelet-type VWD diagnosis.

Special Instructions

All prenatal specimens must be accompanied by a maternal blood specimen to test for maternal cell contamination. Patient information regarding von Willebrand Disease is encouraged to aid in interpretation but not mandatory for test processing.

Limitations

Next-generation sequencing may not detect all types of genomic variants, and in rare cases, false-negative or false-positive results may occur. Technical limitations include regions of homology, high guanine-cytosine content, and repetitive sequences that may not be effectively evaluated. The test targets single and multi-exon deletions/duplications but may not detect balanced structural rearrangements like translocations or inversions. The test may also not distinguish between somatic and germline variants.

Test Details

New York Approved