HELIX DIAGNOSTICS
Family Variant Testing
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.
Genes Available for Testing (242)
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Important Panel Information
Turnaround time: Typically 7-21 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.
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.