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 by Helix before, Helix will flag them as an existing patient in your EHR ordering workflow. No new sample required in most cases.
Turnaround times are estimates that start once all required samples for an order (including duo or trio family samples) begin processing at the Helix lab, and may be extended due to factors outside Helix's control. If awaiting parental samples, orders may be held up to 3 weeks before proceeding with available samples. The value above indicates the typical minimum time results may be delivered.
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:
- 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.