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Carrier screening

Assess your patients' potential to pass on inheritable conditions and inform family planning discussions with insights into serious genetic disorders.

Clinical Utility

Identifies individuals who may benefit from:

  • Understanding the chance of having a child with an inherited condition
  • Partner testing to better clarify reproductive risk
  • Informed family planning decisions

TECH SPECS

Methodology

Next generation sequencing, repeat-primed PCR for FMR1.

Accuracy

> 98% sensitivity including small variants and CNVs.

Helix carrier panels comparison

View a full comparison of all Helix Carrier Screening tests here:

Helix Carrier Panels

Test Catalog

Select a test below to view a detailed test description, technical specifications and complete gene list.

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 (standard) 7-14 days

2

genes

Core Carrier Screen

A core carrier screen evaluating 39 genes (females) or 30 genes (males) for disorders with carrier frequency ≥1/100, including all ACOG-recommended genes, powered by the Helix Exome+® platform.

Turnaround (standard) 7-14 days

39

genes

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.

Turnaround (standard) 7-14 days

115

genes

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.

Turnaround (standard) 7-14 days

278

genes
Abstract shapes with light colors for the background

Carrier Screening Pre-test Education Video

Provider FAQs

General Information

Carrier screening identifies individuals who carry a pathogenic/likely pathogenic variant for an autosomal recessive or X-linked condition. Carriers are typically unaffected but may have an increased chance of having an affected child.Answer

Logistics

Technology

Results

Patient education and resources

Patient FAQs

General Information

Carrier screening is a genetic test. Genetic tests examine parts of your DNA called genes. Genes determine traits, such as eye color, hair color and blood type, and are inherited from our parents. Variation in genes may also influence your child’s risk of developing certain diseases. Carrier screening can help you and your partner learn if you carry gene changes that could affect your future child’s health. Many people choose this testing to feel informed and prepared, and most results offer reassurance rather than concern. Carrier screening offers a way to learn more about your growing family and support the healthiest possible start for your baby.

Logistics

Results

1. American College of Obstetrics and Gynecology (ACOG):
Committee Opinion No. 691: Carrier Screening for Genetic Conditions. Obstet Gynecol. 2017 Mar;129(3):e41-e55. doi: 10.1097/AOG.0000000000001952. PMID: 28225426. (reaffirmed 2025)

2. American College of Medical Genetics (ACMG):
Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, Chen E, Sparks TN, Reddi HV, Rajkovic A, Dungan JS; ACMG Professional Practice and Guidelines Committee. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Oct;23(10):1793-1806. doi: 10.1038/s41436-021-01203-z. Epub 2021 Jul 20. Erratum in: Genet Med. 2021 Oct;23(10):2015. doi: 10.1038/s41436-021-01300-z. PMID: 34285390; PMCID: PMC8488021.