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.
Turnaround
6–21 days
Requery (SOQO)
≤ 5 days
Genes Tested
All from Helix test menu
Family Variant Testing 1 (FVT1)
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. Family Variant Testing 1 supports a single gene per order and will eventually be replaced by Family Variant Testing 2.
Family Variant Testing 2 (FVT2)
Family Variant Testing 2 (FVT2) is the same methodology as Family Variant Testing 1 (FVT1) but supports up to 5 genes per order. Given FVT1 supports only a single gene per order, FVT2 is the next generation version of Helix Family Variant Testing and will eventually replace FVT1. This test is available for new or updating EHR integrations and will be available on the Helix portal soon.
Order This Test
Contact our clinical team to order this panel or learn more.
Indications for Testing
A known pathogenic or likely pathogenic variant previously identified in a biological family member, where targeted testing is clinically indicated to clarify risk in the patient.
Methodology
This test utilizes next-generation sequencing on the Helix Exome+® platform to detect previously identified single nucleotide variants, insertions and deletions, and copy number variants. Targeted analysis is performed against the variant(s) specified at the time of order.
Technical Specifications
Methodology
Exome+® NGS (exome capture + deep intronic coverage in key regions + relevant promoters and inversions).
Analytical Sensitivity (SNV)
> 99.9%
Analytical Sensitivity (Indel)
> 99%
CNV Resolution
Single exon-level resolution for deletions and duplications.
Helix Wayfinder™ Interpretation
Automated pathogenicity score recommendations powered by AI intelligence, augmented by > 850k longitudinal records.
Genomic Build
GRCh38
Genes Tested
Family Variant Testing is available for any gene from the entire Helix test menu. While Family Variant Testing 1 supports a single gene per order, Family Variant Testing 2 allows for up to 5 genes to be ordered.
Ordering Information
Turnaround Time
Typically 6–21 days (standard), Typically ≤ 5 days (requery)
Preferred Specimen
BD Vacutainer Whole Blood K2 EDTA Collection Tube 4mL or Oragene Dx Saliva Collection Kit
Shipping Instructions
Specimens to arrive at Helix within 96 hours of collection at ambient temperature.
Clinical Description
Family Variant Testing is used to clarify a patient's risk for a condition associated with a variant previously identified in a biological relative. Identifying the presence or absence of a familial variant supports personalized medical management, cascade testing strategies, and informed reproductive decision-making.
Results are returned with Helix's Sequence Once, Query Often® approach, allowing the patient's exome data to remain securely available for additional analyses without requiring re-collection of a sample.
Ready to order this test?
Contact our clinical team to order the Family Variant Testing for your patients.