Carrier screening
Assess your patients' potential to pass on inheritable conditions and inform family planning discussions with insights into serious genetic disorders.
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.
Helix carrier panels comparison
View a full comparison of all Helix Carrier Screening tests here:
Helix Carrier PanelsTest Catalog
Select a test below to view a detailed test description, technical specifications and complete gene list.
Fundamental Carrier Screen
A fundamental carrier screen evaluating CFTR and SMN1 for carrier status, powered by the Helix Exome+® platform for accurate detection of common variants.
2
genesCore Carrier Screen
A core carrier screen evaluating 39 genes (females) or 30 genes (males) for disorders with carrier frequency ≥1/100, including all ACOG-recommended genes, powered by the Helix Exome+® platform.
39
genesExpanded Carrier Screen
An expanded carrier screen evaluating 115 genes (females) or 99 genes (males) for autosomal recessive and X-linked disorders with carrier frequency ≥1/200, powered by the Helix Exome+® platform.
115
genesComprehensive Carrier Screen
A comprehensive carrier screen evaluating 278 genes (females) or 257 genes (males) for autosomal recessive and X-linked inherited disorders, powered by the Helix Exome+® platform.
278
genes