Family Variant Testing
A targeted test to identify specific variants previously identified in a family member, with comprehensive gene evaluation powered by the Helix Exome+® platform.
6-21 days
≤ 5 days
Test Description
Helix family variant testing is a type of genetic testing that can determine whether family members have inherited a known genetic variant. It is commonly used when a family member has tested positive for a genetic variant, and other relatives want to assess their risk of having the same variant. Family variant testing is available to any individual who has a blood relative with a Pathogenic or Likely Pathogenic result. Up to two (2) known family variants in up to two (2) genes can be added to any Helix diagnostic or screening test at no additional cost.
Family variant testing for up to four (4) variants in one (1) gene is also available at no additional cost when it is ordered as a standalone test, if: 1) the original patient was a blood relative that was tested by us, and 2) the family variant testing is ordered within 90 days of issuance of the original patient’s test report.
Have Questions
Our team is available Monday through Friday, 9am-5pm Pacific Time.
Indications for Testing
A family member of a proband who has received a genetic test result with a pathogenic or likely pathogenic variant.
Methodology
This test utilizes next-generation sequencing to detect single nucleotide variants, insertions and deletions up to 20 bp, and copy number variants.
Technical Specifications
> 99%
> 99%
> 99%
> 99%
> 90%
N/A - Gene-specific notes vary based on the ordered gene.
GRCh38
Genes Available for Testing
Showing 25 of 242 genes in this panel