Core 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.
7-14 days
Test Description
The Helix Core Carrier Screen analyzes 39 genes associated with serious inherited conditions, aligned with ACMG Tier 2 guidelines and ACOG recommendations. This comprehensive panel covers conditions with a carrier frequency greater than 1 in 100.
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
CFTR: Analysis of the intron 8 polymorphic region (e.g. IVS8-5T allele) is only performed if the p.Arg117His (R117H) mutation is detected. Single exon deletion/duplication analysis is limited to delet...
GRCh37
Genes Tested
Showing 25 of 39 genes in this panel