Proband Variant Resolution

Casandra

Casandra Test Code BA17473Version 1 (DRAFT)

Performing Lab

Lab Baylor GeneticsLab Test ID 1594

Proband Variant Resolution

Clinical Use

Use

Proband Variant Resolution is a no-cost assessment designed to clarify the clinical significance of variants of uncertain significance (VUS) identified in a proband who has undergone Whole Exome Sequencing, Whole Genome Sequencing, or certain Next-Generation Sequencing Panels at Baylor Genetics. This process helps in understanding how these variants may affect first-degree relatives within the context of their genetic health. The relatives’ test results will contribute to an updated report for the proband, although no separate reports will be issued for the relatives unless specifically requested. This testing is crucial as it aids in making informed medical decisions based on the genetic risks associated with these variants, thereby enhancing familial understanding of genetic backgrounds.

Special Instructions

If you are seeking no-cost familial testing for a pathogenic or likely pathogenic variant detected in a proband at Baylor Genetics, please refer to Test Code 1593 - Known Familial Variant.

Limitations

The provided criteria indicate the minimal requirements for relatives to qualify for no-cost testing; however, additional restrictions may apply. Copy number variants, mitochondrial variants, short tandem repeats, and other variant types are excluded from no-cost testing under this policy. It should be noted that prenatal familial variant testing is also ineligible for the no-cost option. This policy may be updated or changed by Baylor Genetics at their discretion, without prior notice, which could affect eligibility and testing options.

Test Details