Baylor Genetics offers complimentary targeted testing for up to two relatives as specified below, when required to clarify the clinical significance of variants found in a proband that had Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS), or Next-Generation Sequencing (NGS) Panels (excluding carrier screening or PreSeek™).
Complimentary targeted testing in relatives is offered up to 180 days from the original proband report date. Relatives’ test results will be included in an updated report for the proband. No reports will be issued for the tested relatives, unless specifically requested. Qualification criteria can be discussed prior to sending the relative’s sample by calling 1-800-411-4363 or emailing [email protected].
Requirements:
- The proband originally tested underwent testing at Baylor Genetics.
- The family member is a first-degree relative of the proband.
- The relative’s 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.*
- The affected/unaffected status must be identified on the test requisition form for the first-degree relatives undergoing the no-cost testing.
Inheritance |
Eligible Variants |
Eligible Relatives |
Autosomal recessive |
Two or more heterozygous variants with a pathogenic, likely pathogenic, variant of uncertain significance (VUS) classification are detected and phase is unknown |
Up to two first-degree relatives |
Autosomal dominant |
VUS that are absent from population databases (gnomAD v4.1.0) |
Up to two first-degree relatives |
X-linked |
VUS that are absent from population databases (gnomAD v4.1.0) |
Up to two first-degree male relatives preferred; other relatives may be considered, depending on family structure (contact [email protected]) |
DISCLAIMER
* Copy number variants and other variant types do not qualify for coverage under this policy.