Comprehensive 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.
7-14 days
Test Description
The Helix Comprehensive Carrier Screen analyzes 278 genes associated with a broad range of serious inherited conditions, aligned with ACMG Tier 4 guidelines. This extensive panel provides the most thorough carrier screening option, covering prevalent and clinically significant inherited disorders.
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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 as this variant is associated with low disease penetrance. CFTR: Analysis of the intron 8 polymorphic region (...
GRCh37
Genes Tested
Showing 25 of 278 genes in this panel