Carrier screening
Assess your patients’ potential to pass on inheritable conditions and inform family planning discussions with insights into serious genetic disorders.
Test Catalog
Select a test below to view a detailed test description, technical specifications and complete gene list.
Clinical Utility
Identifies individuals who may benefit from:
- Understanding the chance of having a child with an inherited condition
- Partner testing to better clarify reproductive risk
- Informed family planning decisions
Tech Specs
Methodology
Next generation sequencing, repeat-primed PCR for FMR1.
Accuracy
> 98% sensitivity including small variants and CNVs.
FAQs
General Information
What is carrier screening?
Carrier screening identifies individuals who carry a pathogenic/likely pathogenic variant for an autosomal recessive or X-linked condition. Carriers are typically unaffected but may have an increased chance of having an affected child.
Who should be offered carrier screening?
When is the preferred time to perform carrier screening?
What panel sizes are available and how do they differ?
Logistics
What sample types does Helix accept for carrier screening?
What is the turnaround time for Helix carrier screening?
How much does Helix carrier screening cost?
Technology
What technology does Helix use for carrier screening?
What are the performance metrics of Helix carrier screening?
Do you screen males for X-linked conditions?
Results
What types of results can carrier screening return?
Does Helix confirm pathogenic or likely pathogenic variants that are found on carrier screening?
Does Helix report variants of uncertain significance (VUS) on their carrier screening tests?
What are the next steps if a patient is identified as a carrier?
What if both partners are carriers for the same condition?
Does a negative carrier screening result eliminate all risk?
Ready to get started?
Connect with our team to learn how Helix can transform your practice with comprehensive genomic testing.