HELIX DIAGNOSTICS
Expanded Carrier Screen
Test Description
The Helix Expanded Carrier Screen analyzes 115 genes associated with serious inherited conditions, aligned with ACMG Tier 3 guidelines. This comprehensive panel covers conditions with a carrier frequency greater than 1 in 200.
Genes Tested (115)
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Important Panel Information
Turnaround time: Typically 7 to 21 days
Preferred specimen: Oragene Dx Saliva Collection Kit
Shipping instructions: Specimens to arrive at Helix within 96 hours of collection at ambient temperature.
The genes on this panel are well understood in the literature, have clearly defined strong gene-disease associations with inherited conditions that present as profound, severe, or moderate as classified by ACMG, and have widely available prenatal diagnosis.
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 and reported with interpretive comments detailing their potential or known significance.