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
242
Panel 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.
Order This Test
Contact our clinical team to order this panel or learn more.
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
Analytical sensitivity (SNV)
> 99%
Analytical sensitivity (indel)
> 99%
Analytical specificity
> 99%
CNV sensitivity (multi-exon)
> 99%
CNV sensitivity (single-exon)
> 90%
Gene notes
N/A - Gene-specific notes vary based on the ordered gene.
Genomic build
GRCh38
Genes Tested
242 genes included in this panel
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
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.
Ready to order this test?
Contact our clinical team to order the Family Variant Testing for your patients.