Carrier screening

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

Test Catalog

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

Fundamental Carrier Screen

2genes

A fundamental carrier screen evaluating CFTR and SMN1 for carrier status, powered by the Helix Exome+® platform for accurate detection of common variants.

Standard: 7-14 days

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Core Carrier Screen

39genes

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.

Standard: 7-14 days

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Expanded Carrier Screen

115genes

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.

Standard: 7-14 days

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Comprehensive Carrier Screen

278genes

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.

Standard: 7-14 days

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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

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