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 targeted test to identify the presence or absence of one or more specific variants previously identified as being present in a family member. The entire gene will be evaluated and therefore additional variants determined to be pathogenic or likely pathogenic within the gene ordered will also be included in the report. Variants of uncertain significance (VUS) will not be included except in cases where the variant specified in the order is determined to be a VUS. A separate order is required for variants in separate genes.
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