North America Genetic Testing Market Size & Share Analysis - Growth Trends & Forecasts (2025 - 2030)

The Report covers North America Genetic Diagnostic Testing Companies and it is Segmented by Type (Carrier Testing, Diagnostic Testing, Newborn Screening, Predictive and Presymptomatic Testing, Prenatal Testing, and Other Types), Disease (Alzheimer's Disease, Cancer, Cystic Fibrosis, Sickle Cell Anemia, Duchenne Muscular Dystrophy, Thalassemia, Huntington's Disease, and Rare Diseases), Technology (Cytogenetic Testing, Biochemical Testing, and Molecular Testing), and Country (United States, Canada, and Mexico). The report offers the value (in USD million) for the above segments.

North America Genetic Testing Market Size & Share Analysis - Growth Trends & Forecasts (2025 - 2030)

North America Genetic Testing Market Size

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North America Genetic Testing Market  Summary
Study Period 2019 - 2030
Base Year For Estimation 2024
Forecast Data Period 2025 - 2030
Historical Data Period 2019 - 2023
Market Size (2025) USD 8.56 Billion
Market Size (2030) USD 13.80 Billion
CAGR (2025 - 2030) 10.02 %

Major Players

North America Genetic Testing Market Major Players

*Disclaimer: Major Players sorted in no particular order

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North America Genetic Testing Market Analysis

The North America Genetic Testing Market size is estimated at USD 8.56 billion in 2025, and is expected to reach USD 13.80 billion by 2030, at a CAGR of 10.02% during the forecast period (2025-2030).

The COVID-19 pandemic left a significant impact on the growth of the genetic testing market. According to the study published in Prenatal Diagnosis in March 2021, the COVID-19 pandemic influenced pregnant women's decisions about prenatal genetic testing. Patients' access to and use of prenatal genetic tests may have been impacted by the pandemic. According to a study published in January 2021 by a group of researchers from the United States, there was an urgent need for the development of approaches that can reduce the serious challenges affecting patients with rare and undiagnosed diseases and families. The challenges include diagnostic and/or prognostic uncertainty coupled with medical complexity leading to poor health outcomes. In addition, clinical trials focused on rare diseases had also been affected by the COVID-19 pandemic. The pandemic created several challenges for clinical trials. The challenges associated with finding, recruiting, and retaining patients with rare diseases majorly impacted clinical trials. The genetic testing market was severely impacted by the COVID-19 outbreak but has recovered in the two years to show strong growth in the post pandemic era.

The market is growing constantly owing to factors, like increasing demand for personalized genetic testing services in the region and the rise in the prevalence of chronic and genetic disorders. According to the CDC, most clinics and hospitals have restricted in-person delivery of non-essential healthcare services, including genetic counseling, to minimize coronavirus transmission. Hence, though the market studied had slowed down due to the pandemic, the situation is expected to improve gradually.

According to the World Federation of Hemophilia 2021 Report, there were about 14,816 patiens with hemophilia (hemophilia A - 11,790 and hemophilia B - 3,026) in the United States in 2020 and 3,924 patients with hemophilia in Canada in 2020 (hemophilia A - 3,223 and hemophilia B - 701) . Such a high number of hemophilia cases in these regions is expected to drive the growth of the market due to the higher adoption of therapies for hemophilia. Thus, increasing genetic diseases in the region is driving the need for genetic testing.

The increasing product approvals by the USFDA and subsequent launches are anticipated to drive the market's growth in North America. For instance, in October 2021, F. Hoffmann-La Roche Ltd launched AVENIO Tumor Tissue CGP Kit, a comprehensive genomic profiling kit to make tailored cancer research more accessible. Thus, given the growing cancer incidence and strategies taken ahead by key players in the region, the genetic testing market is expected to grow significantly over the forecast period in North America.

North America Genetic Testing Industry Overview

The competitive landscape includes an analysis of a few international and local companies that hold market shares and are well known. These include 23&Me Inc., Abbott Laboratories, Ariosa Diagnostics Inc., Danaher Corporation (Cepheid Inc.), Illumina Inc., DiaSorin Spa (Luminex Corporation), Biorad Laboratories Inc., PerkinElmer Inc., Quest Diagnostics Incorporated, and F Hoffmann-La Roche Ltd.

North America Genetic Testing Market Leaders

  1. Abbott Laboratories

  2. Illumina Inc.

  3. 23&Me Inc.

  4. F Hoffmann-La Roche Ltd

  5. Danaher Corporation (Cepheid Inc.)

  6. *Disclaimer: Major Players sorted in no particular order
North America Genetic Testing Market Concentration
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North America Genetic Testing Market News

  • September 2022: Invitae, a United States-based company, announced a collaboration with Simons Searchlight, an international research program, with the goal of accelerating research and improving lives for people with rare genetic neurodevelopmental disorders. This is intended to help improve treatment, with the goal of ultimately finding a cure for these rare diseases.
  • June 2022: Prenetics Group Limited introduced a novel, non-invasive, at-home screening test - ColoClear by Circle (ColoClear), for detecting early signs of colorectal cancer.

North America Genetic Testing Market Report - Table of Contents

1. INTRODUCTION

  • 1.1 Study Assumptions and Market Definition
  • 1.2 Scope of the Study

2. RESEARCH METHODOLOGY

3. EXECUTIVE SUMMARY

4. MARKET DYNAMICS

  • 4.1 Market Overview
  • 4.2 Market Drivers
    • 4.2.1 Emphasis on Early Disease Detection and Prevention
    • 4.2.2 Growing Demand for Personalized Medicine
    • 4.2.3 Increasing Application of Genetic Testing in Oncology
  • 4.3 Market Restraints
    • 4.3.1 High Costs of Genetic Testing
    • 4.3.2 Potentially Adverse Personal or Societal Consequences
  • 4.4 Porter's Five Forces Analysis
    • 4.4.1 Threat of New Entrants
    • 4.4.2 Bargaining Power of Buyers/Consumers
    • 4.4.3 Bargaining Power of Suppliers
    • 4.4.4 Threat of Substitute Products
    • 4.4.5 Intensity of Competitive Rivalry

5. Market Segmentation (Market Size by Value - USD million)

  • 5.1 By Type
    • 5.1.1 Carrier Testing
    • 5.1.2 Diagnostic Testing
    • 5.1.3 Newborn Screening
    • 5.1.4 Predictive and Presymptomatic Testing
    • 5.1.5 Prenatal Testing
    • 5.1.6 Other Types
  • 5.2 By Diseases
    • 5.2.1 Alzheimer's Disease
    • 5.2.2 Cancer
    • 5.2.3 Cystic Fibrosis
    • 5.2.4 Sickle Cell Anemia
    • 5.2.5 Duchenne Muscular Dystrophy
    • 5.2.6 Thalassemia
    • 5.2.7 Huntington's Disease
    • 5.2.8 Rare Diseases
  • 5.3 By Technology
    • 5.3.1 Cytogenetic Testing
    • 5.3.2 Biochemical Testing
    • 5.3.3 Molecular Testing
  • 5.4 By Country
    • 5.4.1 United States
    • 5.4.2 Canada
    • 5.4.3 Mexico

6. COMPETITIVE LANDSCAPE

  • 6.1 Company Profiles
    • 6.1.1 23&Me Inc.
    • 6.1.2 Abbott Laboratories
    • 6.1.3 Ariosa Diagnostics Inc.
    • 6.1.4 Danaher Corporation (Cepheid Inc.)
    • 6.1.5 Illumina Inc.
    • 6.1.6 DiaSorin Spa (Luminex Corporation)
    • 6.1.7 Biorad Laboratories Inc.
    • 6.1.8 PerkinElmer Inc.
    • 6.1.9 Quest Diagnostics Incorporated
    • 6.1.10 F Hoffmann-La Roche Ltd
  • *List Not Exhaustive

7. MARKET OPPORTUNITIES AND FUTURE TRENDS

**Subject to Availability
**Competitive Landscape covers - Business Overview, Financials, Products and Strategies and Recent Developments
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North America Genetic Testing Industry Segmentation

As per the scope of the report, a genetic test is performed to identify the presence of a gene, with a particular sequence in the genome. The gene can be either identified directly through sequencing or can be identified indirectly through various methods. These genetic tests are carried out to assess the risk of an individual developing a certain disease. 

The North American genetic testing market is segmented by type (carrier testing, diagnostic testing, newborn screening, predictive and presymptomatic testing, prenatal testing, and other types), disease (Alzheimer's disease, cancer, cystic fibrosis, sickle cell anemia, Duchenne muscular dystrophy, thalassemia, Huntington's disease, and rare diseases), technology (cytogenetic testing, biochemical testing, and molecular testing), and country (United States, Canada, and Mexico). The report offers the value (in USD million) for the above segments.

By Type Carrier Testing
Diagnostic Testing
Newborn Screening
Predictive and Presymptomatic Testing
Prenatal Testing
Other Types
By Diseases Alzheimer's Disease
Cancer
Cystic Fibrosis
Sickle Cell Anemia
Duchenne Muscular Dystrophy
Thalassemia
Huntington's Disease
Rare Diseases
By Technology Cytogenetic Testing
Biochemical Testing
Molecular Testing
By Country United States
Canada
Mexico
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North America Genetic Testing Market Research FAQs

How big is the North America Genetic Testing Market?

The North America Genetic Testing Market size is expected to reach USD 8.56 billion in 2025 and grow at a CAGR of 10.02% to reach USD 13.80 billion by 2030.

What is the current North America Genetic Testing Market size?

In 2025, the North America Genetic Testing Market size is expected to reach USD 8.56 billion.

Who are the key players in North America Genetic Testing Market?

Abbott Laboratories, Illumina Inc., 23&Me Inc., F Hoffmann-La Roche Ltd and Danaher Corporation (Cepheid Inc.) are the major companies operating in the North America Genetic Testing Market.

What years does this North America Genetic Testing Market cover, and what was the market size in 2024?

In 2024, the North America Genetic Testing Market size was estimated at USD 7.70 billion. The report covers the North America Genetic Testing Market historical market size for years: 2019, 2020, 2021, 2022, 2023 and 2024. The report also forecasts the North America Genetic Testing Market size for years: 2025, 2026, 2027, 2028, 2029 and 2030.

North America Genetic Testing Industry Report

Statistics for the 2025 North America Genetic Testing market share, size and revenue growth rate, created by Mordor Intelligence™ Industry Reports. North America Genetic Testing analysis includes a market forecast outlook for 2025 to 2030 and historical overview. Get a sample of this industry analysis as a free report PDF download.