Expanded 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.
7-14 days
Test Description
The Helix Expanded Carrier Screen analyzes 115 genes associated with serious inherited conditions, aligned with ACMG Tier 3 guidelines. This comprehensive panel covers conditions with a carrier frequency greater than 1 in 200.
Have Questions?
Our team is available Monday through Friday, 9am-5pm Pacific Time.
Indications for Testing
Prenatal or preconception risk assessment for individuals who are pregnant or planning to conceive.
Methodology
This test utilizes next-generation sequencing to detect single nucleotide variants, insertions and deletions up to 20 bp, and copy number variants in genes associated with autosomal recessive and X-linked inherited disorders.
Technical Specifications
Genes Tested
Showing 25 of 115 genes in this panel