General Genetics
Comprehensive genetic testing across a broad range of conditions - from targeted variant confirmation to whole exome sequencing - powered by the Helix Exome+® platform.
Sequence Once, Query Often®
Existing Patient (SOQO)®
Typically ≤ 5 days for most tests
New Patient
Typically 6-21 days for most tests
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.
Test Catalog
Select a test below to view a detailed test description, technical specifications and complete gene list.
Ehlers-Danlos Syndrome (EDS) | Coming Soon
Genetic evaluation for Ehlers-Danlos syndrome and related connective tissue disorders, covering key genes associated with hypermobile, classical, vascular, and other EDS subtypes using the Helix Exome+® platform.
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
- Broad diagnostic yield for unresolved complex presentations (WES+)
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.