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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

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.

View the complete description of this panel

Have Questions?

Our team is available Monday through Friday, 9am-5pm Pacific Time.

(844) 211 2070clinicalsupport@helix.com

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 notesCFTR: 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... Genomic buildGRCh37

Genes Tested

CFTR
SMN1

Showing 2 of 2 genes in this panel

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Expanded Carrier Screen

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Important Panel Information

Turnaround time: Typically 7 to 21 days

Preferred specimen: Oragene Dx Saliva Collection Kit

Shipping instructions: Specimens to arrive at Helix within 96 hours of collection at ambient temperature.

This panel includes the two genes that the American College of Medical Genetics and Genomics recommends all individuals who are pregnant or planning a pregnancy be tested for as a Tier 1 screen.

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.