CodonDx |

Comprehensive carrier screening for approximately 450 genes — for broad and actionable reproductive insights.

450 Genes Covered

Deep coverage of clinically relevant recessive and X-linked conditions, ensuring extensive carrier status detection.

High Clinical Utility

Includes genes associated with actionable and well-studied conditions, aligned with current professional guidelines.

Patner testing is recommended

While maternal ECS can identify carrier status, partner testing is essential to determine couple-based reproductive risk. A maternal-only sample may miss at-risk pairings.

Future-Proof & Scalable

Designed to support future expansions and gene additions as clinical knowledge evolves.

Technical & Panel Details

Our Expanded Carrier Screening (ECS) panel includes approximately 450 genes, covering a broad spectrum of autosomal recessive and X-linked conditions. This panel is designed for comprehensive reproductive risk assessment.

Representative genes covered:

CFTR (Cystic Fibrosis), SMN1 (Spinal Muscular Atrophy), HBB (Sickle Cell / Thalassemia), GBA, PAH, FMR1, GALT, GAA, HEXA, GJB2, …

… (full list available on request or in our downloadable gene list)

Method: Next-Generation Sequencing (NGS) with comprehensive exon + splice-site coverage. Variants include SNVs, small indels, and some CNVs where clinically validated.

Turnaround Time: 10–14 business days.

Sample Requirements: 2–3 mL of peripheral blood collected in EDTA.

Why Use Expanded Carrier Screening?

Identify carrier status for rare conditions that traditional panels may miss
Better informed reproductive planning and risk assessment
Supports genetic counseling for prospective parents
Helpful in IVF / assisted reproduction to guide embryo selection

Limitations & Important Notes

Some very rare conditions or deep intronic variants may not be detected
Carrier status does not always translate to actual disease risk in offspring (depends on partner status)
Genetic counseling is strongly recommended for interpretation and reproductive decision-making

Frequently Asked Questions

Expanded carrier screening tests for a large number of genes — much more than just a few common disorders — to assess risk for a wide array of genetic conditions.

No — our panel is designed to provide actionable carrier status information from a maternal blood sample alone. However, knowing your partner’s carrier status may help you understand potential reproductive risk more precisely.

Coverage depends on your insurance plan. Many insurers cover carrier screening, especially when medically indicated. Please check with your provider or contact our lab for billing support.