Global Carrier Screening Market
Carrier Screening Market

Report ID: SQMIG35A2993

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Carrier Screening Market Size, Share, and Growth Analysis

Global Carrier Screening Market

Carrier Screening Market By Test Type (Molecular Screening Test, Biochemical Screening Test), By Disease Type (Cystic Fibrosis, Tay-Sachs), By Medical Condition, By Technology, By End User, By Region - Industry Forecast 2026-2033


Report ID: SQMIG35A2993 | Region: Global | Published Date: January, 2025
Pages: 177 |Tables: 120 |Figures: 67

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Carrier Screening Market Insights

Global Carrier Screening Market size was valued at USD 2.83 Billion in 2024 and is poised to grow from USD 3.2 Billion in 2025 to USD 8.64 Billion by 2033, growing at a CAGR of 13.2% during the forecast period (2026–2033). 

The rising prevalence of genetic diseases and growing emphasis on preventive healthcare around the world are estimated to primarily drive up the demand for carrier screening in the future. Advancements in genomic technologies and rising awareness regarding genetic disorders such as cystic fibrosis, Tay-Sachs, and sickle cell anemia among people are also slated to promote the adoption of carrier screening over the coming years. Increasing accessibility to genetic testing and availability of favorable reimbursement for carrier screening testing are also slated to create new opportunities for carrier screening companies in the long run. However, lack of standardization, limited awareness in emerging countries, complexity in interpreting results, and high costs of advanced carrier screening tests and technologies are slated to be major restraints for carrier screening market outlook through 2031.

Market snapshot - 2026-2033

Global Market Size

USD 2.5 billion

Largest Segment

Laboratories

Fastest Growth

Hospitals

Growth Rate

13.2% CAGR

Global Carrier Screening Market 2026-2033 ($ Bn)
Country Share for North America Region 2025 (%)

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Carrier Screening Market Segments Analysis

Global Carrier Screening Market is segmented by Test Type, Disease Type, Medical Condition, Technology, End User and region. Based on Test Type, the market is segmented into Molecular Screening Test and Biochemical Screening Test. Based on Disease Type, the market is segmented into Cystic Fibrosis, Tay-Sachs, Gaucher Disease, Sickle Cell Disease, Spinal Muscular Atrophy and Other Autosomal Recessive Genetic Disorders. Based on Medical Condition, the market is segmented into Pulmonary Conditions, Hematological Conditions, Neurological Conditions and Others. Based on Technology, the market is segmented into DNA Sequencing, Polymerase Chain Reaction, Microarrays and Others. Based on End User, the market is segmented into Hospitals, Reference Laboratories, Physician Offices and Clinics and Others. Based on region, the market is segmented into North America, Europe, Asia Pacific, Latin America and Middle East & Africa.  

Analysis by Technology

DNA sequencing technology is projected to account for a dominant carrier screening market share. Rapidly surging use of DNA sequencing technology in multiple carrier screening tests involving pregnancy and fertility is projected to help this segment account for a dominant stance. DNA sequencing technology is used to isolate, amplify, and identify potential mutations in genes. High emphasis on eliminating the risk of hereditary transmission of genetic disorders from parents to children is expected to help this segment maintain its lead in the global market landscape across the study period. High accuracy of diagnosis associated with this technology also boosts market development.

On the other hand, the use of polymerase chain reaction technology is slated to increase rapidly in the global carrier screening industry. The ability of polymerase chain reaction (PCR) technology to provide highly accurate results even with a small and poor-quality DNA sample is helping it gain traction in the world of carrier screening going forward. Surging incidence of cystic fibrosis and spinal muscular atrophy (SMA) and extensive use of PCR-based carrier screening for diagnosis and treatment of the same is also estimated to generate lucrative new opportunities for all carrier screening companies focusing on this segment in the future.

Analysis by End User

Laboratories are projected to emerge as the dominant end user segment for carrier screening companies over the coming years. Growing demand for genetic testing and rising investments in genetic research are projected to help this segment hold a dominant carrier screening market share. Rising demand for personalized medicine and increasing use of carrier screening tests to determine feasibility for treatments and medications is also estimated to promote dominance of this segment in the future. Increasing investments of laboratories to maximize their testing capabilities and growing emphasis on digitization of laboratories are also estimated to create new opportunities for carrier screening companies targeting this segment going forward.

Meanwhile, the use of carrier screening in hospitals is slated to account for the second-largest share of the global carrier screening industry. Increasing use of advanced healthcare technologies and rising hospitalization rate due to genetic disorders are estimated to be key factors contributing to the high market share of this segment. Increasing investments in healthcare infrastructure development in developing countries are also expected to present new opportunities for carrier screening companies in the future. Rising demand for preventive healthcare solutions and adoption of personalized medicine practices in hospitals are also estimated to bolster revenue generation for carrier screening providers across the study period and beyond.

Global Carrier Screening Market By End User 2026-2033

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Carrier Screening Market Regional Insights

North America is forecasted to account for a dominant share of the global carrier screening market. The presence of a developed healthcare infrastructure, rising awareness regarding chromosomal disorders, presence of increasing aging population, and high spending potential of patients are some key factors helping this region maintain its dominance. Canada and the United States are estimated to be the leading markets for carrier screening companies operating in this region. High investments in medical research in North America and the quick adoption of advanced medical technologies are also estimated to create new opportunities for carrier screening providers going forward.

The Asia Pacific region is anticipated to emerge as the fastest growing market for carrier screening companies in the future. Increasing investments in healthcare infrastructure development, growing awareness regarding genetic diseases, and rising emphasis on preventive healthcare are slated to be key factors driving up the demand for carrier screening in this region. China, Japan, and India are expected to be preferred markets for carrier screening companies looking to boost revenue in this region as the patient population rises rapidly in these countries. The launch of new government and non-profit awareness initiatives to boost awareness regarding genetic disorder symptoms are also expected to help carrier screening companies boost their revenue generation in the future.

Global Carrier Screening Market By Region, 2026-2033
  • Largest
  • Fastest

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Carrier Screening Market Dynamics

Carrier Screening Market Drivers

High Incidence of Genetic Disorders

  • Growing prevalence of genetic disorders around the world and increasing awareness regarding the same are projected to bolster the demand for carrier screening in the future. Carrier screening enables at-risk individuals and couples to make informed reproductive choices to reduce the risk and incidence of genetic disorders such as cystic fibrosis, Tay-Sachs, and sickle cell anemia.

High Emphasis on Preventive Healthcare

  • Increasing emphasis on improving preventive care around the world is also forecasted to drive carrier screening market growth in the future. Carrier screening plays a vital role in providing meaningful insights into future health risks, majorly for prospective parents. Public health campaigns, educational programs, and genetic counseling services have helped boost the popularity of preventive healthcare globally.

Carrier Screening Market Restraints

Lack of Standardization in Screening Panels

  • There are no standard guidelines or regulations for carrier screening panels, which results in inconsistent results across various applications. This lack of uniformity makes it challenging for healthcare providers and patients to find screening solutions that are actually reliable and accurate thereby hurting the adoption of carrier screening in the future.

Complexity in Result Interpretation

  • Interpreting results from carrier screening tests can be quite challenging and complex task as it requires specialized knowledge regarding genetic technologies and genes. However, the healthcare industry faces a shortage of skilled professionals, which is expected to further hurt the demand for carrier screening in the long run.

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Carrier Screening Market Competitive Landscape

Providing carrier screening services in developing countries will be a major trend for all market players in the long run. Bridging the gap of shortage of radiologists will also be a key opportunity for carrier screening companies to explore. Carrier screening providers can also take advantage of supportive government initiatives and awareness programs to promote the demand for carrier screening around the world.

Top Players in Carrier Screening Market

  • Illumina, Inc. (USA) 
  • Thermo Fisher Scientific Inc. (USA) 
  • Natera, Inc. (USA) 
  • Myriad Genetics, Inc. (USA) 
  • Eurofins Scientific (Luxembourg) 
  • Laboratory Corporation of America Holdings (LabCorp) (USA) 
  • Quest Diagnostics Incorporated (USA) 
  • Invitae Corporation (USA) 
  • PerkinElmer, Inc. (USA) 
  • Fulgent Genetics (USA) 
  • Agilent Technologies, Inc. (USA) 
  • Genomics England (UK) 
  • Centogene AG (Germany) 
  • Integrated DNA Technologies, Inc. (IDT) (USA) 
  • BGI Genomics (China) 
  • Ambry Genetics Corporation (USA) 
  • DNA Genotek Inc. (Canada) 
  • GeneDx, Inc. (USA) 
  • MedGenome Labs Pvt. Ltd. (India) 

Recent Developments in Carrier Screening Market

  • In June 2024, Myriad Genetics Inc., a leading name in the genetic testing business announced the launch of a new carrier screen panel to its existing product portfolio. Universal Plus Panel was added to Foresight® Carrier Screen product portfolio capable of screening up to 272 genes for around 39 medical conditions.
  • In June 2022, Phosphorus Labs, a top name in the preventative genomics industry was acquired by Kindbody. Through this acquisition, Kindbody added genetic testing and carrier screening to its care offerings and thus bolstered its presence in the global genetic testing landscape as well.

Carrier Screening Key Market Trends

Carrier Screening Market SkyQuest Analysis

SkyQuest's ABIRAW (Advanced Business Intelligence, Research & Analysis Wing) is our Business Information Services team that Collects, Collates, Correlates, and Analyses the Data collected by means of Primary Exploratory Research backed by robust Secondary Desk research.

As per SkyQuest analysis, the growing prevalence of genetic disorders and rising focus on preventive healthcare are expected to promote the demand for carrier screening over the coming years. However, lack of standardization for screen panels and complex process of result interpretation are expected to impede the global carrier screening demand outlook going forward. The presence of a strong healthcare infrastructure allows North America to emerge as the leading regional market in the world for carrier screening companies through 2031. As per this carrier screening market analysis, targeting digital health and personalized medicine trends are slated to create opportune revenue streams for all carrier screening companies in the long run.

Report Metric Details
Market size value in 2024 USD 2.83 Billion
Market size value in 2033 USD 8.64 Billion
Growth Rate 13.2%
Base year 2024
Forecast period 2026-2033
Forecast Unit (Value) USD Billion
Segments covered
  • Test Type
    • Molecular Screening Test, Biochemical Screening Test
  • Disease Type
    • Cystic Fibrosis, Tay-Sachs, Gaucher Disease, Sickle Cell Disease, Spinal Muscular Atrophy, Other Autosomal Recessive Genetic Disorders
  • Medical Condition
    • Pulmonary Conditions, Hematological Conditions, Neurological Conditions, Others
  • Technology
    • DNA Sequencing, Polymerase Chain Reaction, Microarrays, Others
  • End User
    • Hospitals, Reference Laboratories, Physician Offices and Clinics, Others
Regions covered North America (US, Canada), Europe (Germany, France, United Kingdom, Italy, Spain, Rest of Europe), Asia Pacific (China, India, Japan, Rest of Asia-Pacific), Latin America (Brazil, Rest of Latin America), Middle East & Africa (South Africa, GCC Countries, Rest of MEA)
Companies covered
  • Illumina, Inc. (USA) 
  • Thermo Fisher Scientific Inc. (USA) 
  • Natera, Inc. (USA) 
  • Myriad Genetics, Inc. (USA) 
  • Eurofins Scientific (Luxembourg) 
  • Laboratory Corporation of America Holdings (LabCorp) (USA) 
  • Quest Diagnostics Incorporated (USA) 
  • Invitae Corporation (USA) 
  • PerkinElmer, Inc. (USA) 
  • Fulgent Genetics (USA) 
  • Agilent Technologies, Inc. (USA) 
  • Genomics England (UK) 
  • Centogene AG (Germany) 
  • Integrated DNA Technologies, Inc. (IDT) (USA) 
  • BGI Genomics (China) 
  • Ambry Genetics Corporation (USA) 
  • DNA Genotek Inc. (Canada) 
  • GeneDx, Inc. (USA) 
  • MedGenome Labs Pvt. Ltd. (India) 
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Table Of Content

Executive Summary

Market overview

  • Exhibit: Executive Summary – Chart on Market Overview
  • Exhibit: Executive Summary – Data Table on Market Overview
  • Exhibit: Executive Summary – Chart on Carrier Screening Market Characteristics
  • Exhibit: Executive Summary – Chart on Market by Geography
  • Exhibit: Executive Summary – Chart on Market Segmentation
  • Exhibit: Executive Summary – Chart on Incremental Growth
  • Exhibit: Executive Summary – Data Table on Incremental Growth
  • Exhibit: Executive Summary – Chart on Vendor Market Positioning

Parent Market Analysis

Market overview

Market size

  • Market Dynamics
    • Exhibit: Impact analysis of DROC, 2021
      • Drivers
      • Opportunities
      • Restraints
      • Challenges
  • SWOT Analysis

KEY MARKET INSIGHTS

  • Technology Analysis
    • (Exhibit: Data Table: Name of technology and details)
  • Pricing Analysis
    • (Exhibit: Data Table: Name of technology and pricing details)
  • Supply Chain Analysis
    • (Exhibit: Detailed Supply Chain Presentation)
  • Value Chain Analysis
    • (Exhibit: Detailed Value Chain Presentation)
  • Ecosystem Of the Market
    • Exhibit: Parent Market Ecosystem Market Analysis
    • Exhibit: Market Characteristics of Parent Market
  • IP Analysis
    • (Exhibit: Data Table: Name of product/technology, patents filed, inventor/company name, acquiring firm)
  • Trade Analysis
    • (Exhibit: Data Table: Import and Export data details)
  • Startup Analysis
    • (Exhibit: Data Table: Emerging startups details)
  • Raw Material Analysis
    • (Exhibit: Data Table: Mapping of key raw materials)
  • Innovation Matrix
    • (Exhibit: Positioning Matrix: Mapping of new and existing technologies)
  • Pipeline product Analysis
    • (Exhibit: Data Table: Name of companies and pipeline products, regional mapping)
  • Macroeconomic Indicators

COVID IMPACT

  • Introduction
  • Impact On Economy—scenario Assessment
    • Exhibit: Data on GDP - Year-over-year growth 2016-2022 (%)
  • Revised Market Size
    • Exhibit: Data Table on Carrier Screening Market size and forecast 2021-2027 ($ million)
  • Impact Of COVID On Key Segments
    • Exhibit: Data Table on Segment Market size and forecast 2021-2027 ($ million)
  • COVID Strategies By Company
    • Exhibit: Analysis on key strategies adopted by companies

MARKET DYNAMICS & OUTLOOK

  • Market Dynamics
    • Exhibit: Impact analysis of DROC, 2021
      • Drivers
      • Opportunities
      • Restraints
      • Challenges
  • Regulatory Landscape
    • Exhibit: Data Table on regulation from different region
  • SWOT Analysis
  • Porters Analysis
    • Competitive rivalry
      • Exhibit: Competitive rivalry Impact of key factors, 2021
    • Threat of substitute products
      • Exhibit: Threat of Substitute Products Impact of key factors, 2021
    • Bargaining power of buyers
      • Exhibit: buyers bargaining power Impact of key factors, 2021
    • Threat of new entrants
      • Exhibit: Threat of new entrants Impact of key factors, 2021
    • Bargaining power of suppliers
      • Exhibit: Threat of suppliers bargaining power Impact of key factors, 2021
  • Skyquest special insights on future disruptions
    • Political Impact
    • Economic impact
    • Social Impact
    • Technical Impact
    • Environmental Impact
    • Legal Impact

Market Size by Region

  • Chart on Market share by geography 2021-2027 (%)
  • Data Table on Market share by geography 2021-2027(%)
  • North America
    • Chart on Market share by country 2021-2027 (%)
    • Data Table on Market share by country 2021-2027(%)
    • USA
      • Exhibit: Chart on Market share 2021-2027 (%)
      • Exhibit: Market size and forecast 2021-2027 ($ million)
    • Canada
      • Exhibit: Chart on Market share 2021-2027 (%)
      • Exhibit: Market size and forecast 2021-2027 ($ million)
  • Europe
    • Chart on Market share by country 2021-2027 (%)
    • Data Table on Market share by country 2021-2027(%)
    • Germany
      • Exhibit: Chart on Market share 2021-2027 (%)
      • Exhibit: Market size and forecast 2021-2027 ($ million)
    • Spain
      • Exhibit: Chart on Market share 2021-2027 (%)
      • Exhibit: Market size and forecast 2021-2027 ($ million)
    • France
      • Exhibit: Chart on Market share 2021-2027 (%)
      • Exhibit: Market size and forecast 2021-2027 ($ million)
    • UK
      • Exhibit: Chart on Market share 2021-2027 (%)
      • Exhibit: Market size and forecast 2021-2027 ($ million)
    • Rest of Europe
      • Exhibit: Chart on Market share 2021-2027 (%)
      • Exhibit: Market size and forecast 2021-2027 ($ million)
  • Asia Pacific
    • Chart on Market share by country 2021-2027 (%)
    • Data Table on Market share by country 2021-2027(%)
    • China
      • Exhibit: Chart on Market share 2021-2027 (%)
      • Exhibit: Market size and forecast 2021-2027 ($ million)
    • India
      • Exhibit: Chart on Market share 2021-2027 (%)
      • Exhibit: Market size and forecast 2021-2027 ($ million)
    • Japan
      • Exhibit: Chart on Market share 2021-2027 (%)
      • Exhibit: Market size and forecast 2021-2027 ($ million)
    • South Korea
      • Exhibit: Chart on Market share 2021-2027 (%)
      • Exhibit: Market size and forecast 2021-2027 ($ million)
    • Rest of Asia Pacific
      • Exhibit: Chart on Market share 2021-2027 (%)
      • Exhibit: Market size and forecast 2021-2027 ($ million)
  • Latin America
    • Chart on Market share by country 2021-2027 (%)
    • Data Table on Market share by country 2021-2027(%)
    • Brazil
      • Exhibit: Chart on Market share 2021-2027 (%)
      • Exhibit: Market size and forecast 2021-2027 ($ million)
    • Rest of South America
      • Exhibit: Chart on Market share 2021-2027 (%)
      • Exhibit: Market size and forecast 2021-2027 ($ million)
  • Middle East & Africa (MEA)
    • Chart on Market share by country 2021-2027 (%)
    • Data Table on Market share by country 2021-2027(%)
    • GCC Countries
      • Exhibit: Chart on Market share 2021-2027 (%)
      • Exhibit: Market size and forecast 2021-2027 ($ million)
    • South Africa
      • Exhibit: Chart on Market share 2021-2027 (%)
      • Exhibit: Market size and forecast 2021-2027 ($ million)
    • Rest of MEA
      • Exhibit: Chart on Market share 2021-2027 (%)
      • Exhibit: Market size and forecast 2021-2027 ($ million)

KEY COMPANY PROFILES

  • Competitive Landscape
    • Total number of companies covered
      • Exhibit: companies covered in the report, 2021
    • Top companies market positioning
      • Exhibit: company positioning matrix, 2021
    • Top companies market Share
      • Exhibit: Pie chart analysis on company market share, 2021(%)

Methodology

For the Carrier Screening Market, our research methodology involved a mixture of primary and secondary data sources. Key steps involved in the research process are listed below:

1. Information Procurement: This stage involved the procurement of Market data or related information via primary and secondary sources. The various secondary sources used included various company websites, annual reports, trade databases, and paid databases such as Hoover's, Bloomberg Business, Factiva, and Avention. Our team did 45 primary interactions Globally which included several stakeholders such as manufacturers, customers, key opinion leaders, etc. Overall, information procurement was one of the most extensive stages in our research process.

2. Information Analysis: This step involved triangulation of data through bottom-up and top-down approaches to estimate and validate the total size and future estimate of the Carrier Screening Market.

3. Report Formulation: The final step entailed the placement of data points in appropriate Market spaces in an attempt to deduce viable conclusions.

4. Validation & Publishing: Validation is the most important step in the process. Validation & re-validation via an intricately designed process helped us finalize data points to be used for final calculations. The final Market estimates and forecasts were then aligned and sent to our panel of industry experts for validation of data. Once the validation was done the report was sent to our Quality Assurance team to ensure adherence to style guides, consistency & design.

Analyst Support

Customization Options

With the given market data, our dedicated team of analysts can offer you the following customization options are available for the Carrier Screening Market:

Product Analysis: Product matrix, which offers a detailed comparison of the product portfolio of companies.

Regional Analysis: Further analysis of the Carrier Screening Market for additional countries.

Competitive Analysis: Detailed analysis and profiling of additional Market players & comparative analysis of competitive products.

Go to Market Strategy: Find the high-growth channels to invest your marketing efforts and increase your customer base.

Innovation Mapping: Identify racial solutions and innovation, connected to deep ecosystems of innovators, start-ups, academics, and strategic partners.

Category Intelligence: Customized intelligence that is relevant to their supply Markets will enable them to make smarter sourcing decisions and improve their category management.

Public Company Transcript Analysis: To improve the investment performance by generating new alpha and making better-informed decisions.

Social Media Listening: To analyze the conversations and trends happening not just around your brand, but around your industry as a whole, and use those insights to make better Marketing decisions.

Carrier Screening Market Report Snapshots

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FAQs

Global Carrier Screening Market size was valued at USD 2.83 Billion in 2024 and is poised to grow from USD 3.2 Billion in 2025 to USD 8.64 Billion by 2033, growing at a CAGR of 13.2% during the forecast period (2026–2033). 

Providing carrier screening services in developing countries will be a major trend for all market players in the long run. Bridging the gap of shortage of radiologists will also be a key opportunity for carrier screening companies to explore. Carrier screening providers can also take advantage of supportive government initiatives and awareness programs to promote the demand for carrier screening around the world. 'Illumina, Inc. (USA) ', 'Thermo Fisher Scientific Inc. (USA) ', 'Natera, Inc. (USA) ', 'Myriad Genetics, Inc. (USA) ', 'Eurofins Scientific (Luxembourg) ', 'Laboratory Corporation of America Holdings (LabCorp) (USA) ', 'Quest Diagnostics Incorporated (USA) ', 'Invitae Corporation (USA) ', 'PerkinElmer, Inc. (USA) ', 'Fulgent Genetics (USA) ', 'Agilent Technologies, Inc. (USA) ', 'Genomics England (UK) ', 'Centogene AG (Germany) ', 'Integrated DNA Technologies, Inc. (IDT) (USA) ', 'BGI Genomics (China) ', 'Ambry Genetics Corporation (USA) ', 'DNA Genotek Inc. (Canada) ', 'GeneDx, Inc. (USA) ', 'MedGenome Labs Pvt. Ltd. (India) '

Growing prevalence of genetic disorders around the world and increasing awareness regarding the same are projected to bolster the demand for carrier screening in the future. Carrier screening enables at-risk individuals and couples to make informed reproductive choices to reduce the risk and incidence of genetic disorders such as cystic fibrosis, Tay-Sachs, and sickle cell anemia.

Integration with Digital Health: Carrier screening companies should focus on integrating their solutions with digital health offerings to maximize their business scope in the long run. This digital integration enhances patient engagement and convenience, streamlining the screening process and encouraging more individuals to consider carrier screening is slated to help companies expand their business going forward.

North America is forecasted to account for a dominant share of the global carrier screening market. The presence of a developed healthcare infrastructure, rising awareness regarding chromosomal disorders, presence of increasing aging population, and high spending potential of patients are some key factors helping this region maintain its dominance. Canada and the United States are estimated to be the leading markets for carrier screening companies operating in this region. High investments in medical research in North America and the quick adoption of advanced medical technologies are also estimated to create new opportunities for carrier screening providers going forward.
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