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.
7-14 days
Test Description
The Helix Fundamental Carrier Screen analyzes 2 genes associated with cystic fibrosis and spinal muscular atrophy, aligned with ACMG Tier 1 guidelines. This focused panel provides essential carrier screening for two of the most common and serious inherited conditions.
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 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 2 of 2 genes in this panel