Rare Disease
Helix offers rare disease genetic testing to support clinicians at every stage of the genetic workup, from targeted evaluation for specific suspected conditions to whole exome sequencing for complex, unresolved presentations.
Sequence Once, Query Often®
Existing Patient (SOQO)®
As soon as 5 days
New Patient
As soon as 3 weeks
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, includes 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:
- Shortened time to diagnostic resolution
- Risk-reducing medical management or monitoring
- Targeted therapies and personalized treatment options
- Clarification of 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.
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.