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.
Turnaround
7-14 days
Genes Tested
2
Panel 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.
Order This Test
Contact our clinical team to order this panel or learn more.
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
Gene notes
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 deletions of previously reported exons: 1, 2, 3, 11, 19, 20, 21. CFTR variants primarily associated with CFTR-related isolated congenital bilateral absence of the vas deferens and CFTR-related pancreatitis are not included. SMN1: The current testing method detects sequencing variants in exon 7 and copy number variations in exons 7-8 of the SMN1 gene. Cannot directly detect carriers with a [2+0] SMN1 configuration, but can detect linkage between the silent carrier allele and certain population-specific single nucleotide changes.
Genomic build
GRCh37
Genes Tested
2 genes included in this panel
Ordering Information
Turnaround Time
7-14 days
Preferred Specimen
BD Vacutainer Whole Blood K2 EDTA Collection Tube 4mL or Oragene Dx Saliva Collection Kit
Shipping Instructions
Specimens to arrive at Helix within 96 hours of collection at ambient temperature.
Clinical 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.
Ready to order this test?
Contact our clinical team to order the Fundamental Carrier Screen for your patients.