Targeted analyses
Evaluate specific predefined genetic variants to determine your patient’s risk for known conditions and enable focused, personalized interventions.
sequence once, query often®
TURNAROUND
Existing Patient (SOQO)Ⓡ≤5 days
TURNAROUND
New Patient6-21 days
SAMPLE
Saliva, Blood, Buccal
One comprehensive test provides clinical answers today and enables future queries as science evolves.
If your patient has been sequenced before, Helix will automatically flag them as an existing patient in your EHR ordering workflow. No new sample required.
Clinical Utility
Identifies individuals with specific genetic variants who may benefit from:
- Focused evaluation for known genetic variants
- Personalized care and medical management
- Targeted monitoring or treatment options
- Clarification of genetic risk for family members
TECH SPECS
Methodology
Exome+® NGS (exome capture + deep intronic coverage in key regions + relevant promoters and inversions).
Accuracy
> 99.9% analytical sensitivity for SNVs and small indels.
CNV resolution
Single exon-level resolution for deletions and duplications.
Wayfinder™ interpretation
Automated pathogenicity scoring powered by 3M+ longitudinal records and AI synthesis for superior intelligence.
Test Catalog
Select a test below to view a detailed test description, technical specifications and complete gene list.
Family Variant Testing
A targeted test to identify specific variants previously identified in a family member, with compreh...
242
genesHereditary Hemochromatosis Targeted Test
A targeted diagnostic test analyzing two specific variants in HFE associated with hereditary hemochr...
1
gene