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®
Existing Patient (SOQO)®
≤ 5 days
New Patient
6-21 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 by Helix before, Helix will flag them as an existing patient in your EHR ordering workflow. No new sample required in most cases.
Test Catalog
Select a test below to view a detailed test description, technical specifications and complete gene list.
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.
Helix Wayfinder™ Interpretation
Automated pathogenicity score recommendations powered by AI intelligence, augmented by > 850k longitudinal records.
Ready to get started?
Access Helix's full test catalog through your EHR or our provider portal. Questions about test selection? Our genetics team is here to help.