Known Familial Mutations Policy

Baylor Genetics offers free familial variant testing for up to two first-degree relatives when a pathogenic, likely pathogenic variant or variant of unknown significance (VUS) (see below requirements for details) is found on Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS), or Next Generation Sequencing (NGS) Panels (excluding carrier screening, PreSeek).

No-cost testing of a familial variant is offered up to 180 days from the original report date. Test results will be updated under proband report. No reports will be issued under the testing relatives, but can be provided if requested. Qualification criteria can be discussed prior to sending the sample by calling 1-800-411-4363.


• The proband originally tested underwent testing at Baylor Genetics.

• The family member is a first-degree relative of the proband.

• The no-cost testing order and specimen are received within 180 days of the original proband report date.

• Variants that qualify for no-cost testing must be single nucleotide variants (SNVs) or insertion and deletions (indels) and within the nuclear genome.

• For autosomal recessive conditions, no-cost testing only applies to genes where two or more heterozygous variants (pathogenic, likely pathogenic, or VUS) are detected.

• For X-linked and autosomal dominant conditions, no-cost testing only applies to VUS that are absent from population databases (gnomAD v4.1.0).

• The affected/unaffected status must be identified on the test requisition form for the first-degree relatives undergoing the no-cost testing.

• Variants found on sponsored testing programs may not qualify for no-cost testing.