Known Familial Variant

Clinical Use

Use

Known Familial Variant analysis is a no-cost familial variant test offered for up to two first-degree relatives when a pathogenic or likely pathogenic variant is identified in a proband by Whole Exome Sequencing, Whole Genome Sequencing, or certain Next Generation Sequencing Panels (excluding carrier screening and PreSeek™). Tests will be reported to the ordering provider for the relatives tested, ensuring timely and accurate confirmation of genetic risks. The approach aims to clarify the affected or unaffected status of relatives, assisting in further clinical decisions. Compliance with the established qualification criteria will ensure the test's eligibility, offering a significant advantage for genetic counseling and preventative strategies for at-risk individuals. This service enhances the understanding and awareness of familial genetic conditions, solidifying the commitment to providing comprehensive genetic insights to families

Special Instructions

If a no-cost assessment for a variant of uncertain significance (VUS) is needed for a proband previously tested at Baylor Genetics, please refer to Test Code 1594 for Proband Variant Resolution.

Limitations

The designated criteria represent the minimum requirements necessary for eligibility to ensure proper testing procedures. Limitations include the exclusion of copy number variants, mitochondrial variants, short tandem repeats, and other specific variant types that do not qualify for this no-cost testing policy. Prenatal familial variant testing is also excluded under this guideline. Baylor Genetics reserves the right to modify this policy at their discretion without prior notice as circumstances evolve, which may require individuals seeking no-cost testing to stay informed.

Test Details