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.
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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
BTD: If detected, the variant NM_001370658.1:c.1270G>C (p.Asp424His) will not be reported. CFTR: Analysis of the intron 8 polymorphic region is only performed if p.Arg117His is detected. Single exon d...
GRCh37
Genes Tested
Showing 25 of 115 genes in this panel