HELIX DIAGNOSTICS
Comprehensive Carrier Screen
Test Description
The Helix Comprehensive Carrier Screen analyzes 278 genes associated with a broad range of serious inherited conditions, aligned with ACMG Tier 4 guidelines. This extensive panel provides the most thorough carrier screening option, covering prevalent and clinically significant inherited disorders.
Genes Tested (278)
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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 the autosomal recessive or X-linked conditions described in the panel description here.
Variants are interpreted manually using locus-specific databases, literature searches, and other molecular biological principles. Variants classified as pathogenic, likely pathogenic, or risk allele which are located in the coding regions and nearby intronic regions (+/- 20 bp) of the genes listed are reported. Variants of uncertain significance (VUSes) are not reported.