HELIX DIAGNOSTICS
Core Carrier Screen
Test Description
The Helix Core Carrier Screen analyzes 39 genes associated with serious inherited conditions, aligned with ACMG Tier 2 guidelines and ACOG recommendations. This comprehensive panel covers conditions with a carrier frequency greater than 1 in 100.
Genes Tested (39)
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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.
This panel includes genes that have an established association with inherited conditions that have a carrier frequency in the general population of at least 1 in 100 and/or the conditions associated are recommended to be part of carrier screening panels for specific ethnic groups by the American College of Obstetricians and Gynecologists (ACOG). The conditions on this panel are well understood in the literature, have clearly defined strong gene-disease associations, and have widely available prenatal diagnosis. The clinical impact of these conditions is classified as severe or profound by ACMG (life-threatening or life-shortening, with complex disease course requiring surgical and medical intervention, early onset).
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.