Known Familial Variant
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.
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Unknown)
Volume
5cc for children; 10cc for adults
Minimum Volume
5cc
Container
EDTA (purple-top) tube
Collection Instructions
Draw blood in an EDTA (purple-top) tube(s) for the patient and both parents.
Storage Instructions
Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 72 hrs.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
