HELIX DIAGNOSTICS
Family Variant Testing
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.
Genes Tested (1)
Important Panel Information
Turnaround time: 7-24 days
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.
Useful for diagnostic testing when a variant associated with a specific condition has been previously identified in a family member.
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations. Variants are classified based on known, predicted, or possible pathogenicity; however, this test only reports pathogenic and likely pathogenic variants along with interpretive comments detailing the evidence applied towards classification. Variants of uncertain significance are not reported.