What is the current valuation of the US mendelian disorders-testing market?

The market valuation was $105.35 Million in 2024. Read More

What is the projected market size for the US mendelian disorders-testing market by 2035?

The market is projected to reach $300.88 Million by 2035. Read More

What is the expected CAGR for the US mendelian disorders-testing market during the forecast period?

The expected CAGR is 10.01% from 2025 to 2035. Read More

Which companies are the key players in the US mendelian disorders-testing market?

Key players include Illumina, Thermo Fisher Scientific, Agilent Technologies, Roche, PerkinElmer, Myriad Genetics, Invitae, Fulgent Genetics, and GeneDx. Read More

What are the main segments of the US mendelian disorders-testing market?

The main segments include carrier testing, diagnostic testing, new-born screening, predictive & pre-symptomatic testing, prenatal testing, and others. Read More

How does the carrier testing segment perform in terms of valuation?

The carrier testing segment had a valuation range of $15.0 Million to $40.0 Million. Read More

What is the valuation range for diagnostic testing in the US mendelian disorders-testing market?

The diagnostic testing segment had a valuation range of $30.0 Million to $90.0 Million. Read More

Which disorder types are most prevalent in the US mendelian disorders-testing market?

Prevalent disorder types include cystic fibrosis, sickle cell anemia, and severe combined immunodeficiency (SCID), among others. Read More

What is the expected performance of the new-born screening segment?

The new-born screening segment is projected to have a valuation range of $20.0 Million to $50.0 Million. Read More

Which end users are primarily involved in the US mendelian disorders-testing market?

Primary end users include hospitals, ambulatory surgical centers (ASCs), and specialized clinics. Read More

US Mendelian Disorders Testing Market

ID: MRFR/LS/11203-CR

100 Pages

Satyendra Maurya

Last Updated: April 02, 2026

US Mendelian disorders testing market research report: by test type (carrier testing, diagnostic testing, new-born screening), by disorder (cystic fibrosis, sickle cell anemia), by end-user (hospitals, ascs, specialized clinics) – Global forecast till 2035

US Mendelian Disorders Testing Market Infographic

Summary Table of Contents Segmentation Download PDF

1 SECTION I: EXECUTIVE SUMMARY AND KEY HIGHLIGHTS
1.1 EXECUTIVE SUMMARY
1.1.1 Market Overview
1.1.2 Key Findings
1.1.3 Market Segmentation
1.1.4 Competitive Landscape
1.1.5 Challenges and Opportunities
1.1.6 Future Outlook
2 SECTION II: SCOPING, METHODOLOGY AND MARKET STRUCTURE
2.1 MARKET INTRODUCTION
2.1.1 Definition
2.1.2 Scope of the study
2.1.2.1 Research Objective
2.1.2.2 Assumption
2.1.2.3 Limitations
2.2 RESEARCH METHODOLOGY
2.2.1 Overview
2.2.2 Data Mining
2.2.3 Secondary Research
2.2.4 Primary Research
2.2.4.1 Primary Interviews and Information Gathering Process
2.2.4.2 Breakdown of Primary Respondents
2.2.5 Forecasting Model
2.2.6 Market Size Estimation
2.2.6.1 Bottom-Up Approach
2.2.6.2 Top-Down Approach
2.2.7 Data Triangulation
2.2.8 Validation
3 SECTION III: QUALITATIVE ANALYSIS
3.1 MARKET DYNAMICS
3.1.1 Overview
3.1.2 Drivers
3.1.3 Restraints
3.1.4 Opportunities
3.2 MARKET FACTOR ANALYSIS
3.2.1 Value chain Analysis
3.2.2 Porter's Five Forces Analysis
3.2.2.1 Bargaining Power of Suppliers
3.2.2.2 Bargaining Power of Buyers
3.2.2.3 Threat of New Entrants
3.2.2.4 Threat of Substitutes
3.2.2.5 Intensity of Rivalry
3.2.3 COVID-19 Impact Analysis
3.2.3.1 Market Impact Analysis
3.2.3.2 Regional Impact
3.2.3.3 Opportunity and Threat Analysis
4 SECTION IV: QUANTITATIVE ANALYSIS
4.1 Chemicals and Materials, BY Type (USD Million)
4.1.1 carrier testing
4.1.2 diagnostic testing
4.1.3 new-born screening
4.1.4 predictive & pre-symptomatic testing
4.1.5 prenatal testing
4.1.6 others
4.2 Chemicals and Materials, BY Disorder Type (USD Million)
4.2.1 cystic fibrosis
4.2.2 sickle cell anemia
4.2.3 severe combined immunodeficiency (SCID)
4.2.4 Tay-Sachs disorder
4.2.5 polycystic kidney disorder
4.2.6 Gaucher's disease
4.2.7 Huntington's disease
4.2.8 neurofibromatosis
4.2.9 thalassemia
4.2.10 familial hypercholesterolemia
4.2.11 others
4.3 Chemicals and Materials, BY End User (USD Million)
4.3.1 hospitals
4.3.2 ambulatory surgical centers (ASCs)
4.3.3 specialized clinics
5 SECTION V: COMPETITIVE ANALYSIS
5.1 Competitive Landscape
5.1.1 Overview
5.1.2 Competitive Analysis
5.1.3 Market share Analysis
5.1.4 Major Growth Strategy in the Chemicals and Materials
5.1.5 Competitive Benchmarking
5.1.6 Leading Players in Terms of Number of Developments in the Chemicals and Materials
5.1.7 Key developments and growth strategies
5.1.7.1 New Product Launch/Service Deployment
5.1.7.2 Merger & Acquisitions
5.1.7.3 Joint Ventures
5.1.8 Major Players Financial Matrix
5.1.8.1 Sales and Operating Income
5.1.8.2 Major Players R&D Expenditure. 2023
5.2 Company Profiles
5.2.1 Illumina (US)
5.2.1.1 Financial Overview
5.2.1.2 Products Offered
5.2.1.3 Key Developments
5.2.1.4 SWOT Analysis
5.2.1.5 Key Strategies
5.2.2 Thermo Fisher Scientific (US)
5.2.2.1 Financial Overview
5.2.2.2 Products Offered
5.2.2.3 Key Developments
5.2.2.4 SWOT Analysis
5.2.2.5 Key Strategies
5.2.3 Agilent Technologies (US)
5.2.3.1 Financial Overview
5.2.3.2 Products Offered
5.2.3.3 Key Developments
5.2.3.4 SWOT Analysis
5.2.3.5 Key Strategies
5.2.4 Roche (CH)
5.2.4.1 Financial Overview
5.2.4.2 Products Offered
5.2.4.3 Key Developments
5.2.4.4 SWOT Analysis
5.2.4.5 Key Strategies
5.2.5 PerkinElmer (US)
5.2.5.1 Financial Overview
5.2.5.2 Products Offered
5.2.5.3 Key Developments
5.2.5.4 SWOT Analysis
5.2.5.5 Key Strategies
5.2.6 Myriad Genetics (US)
5.2.6.1 Financial Overview
5.2.6.2 Products Offered
5.2.6.3 Key Developments
5.2.6.4 SWOT Analysis
5.2.6.5 Key Strategies
5.2.7 Invitae (US)
5.2.7.1 Financial Overview
5.2.7.2 Products Offered
5.2.7.3 Key Developments
5.2.7.4 SWOT Analysis
5.2.7.5 Key Strategies
5.2.8 Fulgent Genetics (US)
5.2.8.1 Financial Overview
5.2.8.2 Products Offered
5.2.8.3 Key Developments
5.2.8.4 SWOT Analysis
5.2.8.5 Key Strategies
5.2.9 GeneDx (US)
5.2.9.1 Financial Overview
5.2.9.2 Products Offered
5.2.9.3 Key Developments
5.2.9.4 SWOT Analysis
5.2.9.5 Key Strategies
5.3 Appendix
5.3.1 References
5.3.2 Related Reports
6 LIST OF FIGURES
6.1 MARKET SYNOPSIS
6.2 US MARKET ANALYSIS BY TYPE
6.3 US MARKET ANALYSIS BY DISORDER TYPE
6.4 US MARKET ANALYSIS BY END USER
6.5 KEY BUYING CRITERIA OF CHEMICALS AND MATERIALS
6.6 RESEARCH PROCESS OF MRFR
6.7 DRO ANALYSIS OF CHEMICALS AND MATERIALS
6.8 DRIVERS IMPACT ANALYSIS: CHEMICALS AND MATERIALS
6.9 RESTRAINTS IMPACT ANALYSIS: CHEMICALS AND MATERIALS
6.10 SUPPLY / VALUE CHAIN: CHEMICALS AND MATERIALS
6.11 CHEMICALS AND MATERIALS, BY TYPE, 2024 (% SHARE)
6.12 CHEMICALS AND MATERIALS, BY TYPE, 2024 TO 2035 (USD Million)
6.13 CHEMICALS AND MATERIALS, BY DISORDER TYPE, 2024 (% SHARE)
6.14 CHEMICALS AND MATERIALS, BY DISORDER TYPE, 2024 TO 2035 (USD Million)
6.15 CHEMICALS AND MATERIALS, BY END USER, 2024 (% SHARE)
6.16 CHEMICALS AND MATERIALS, BY END USER, 2024 TO 2035 (USD Million)
6.17 BENCHMARKING OF MAJOR COMPETITORS
7 LIST OF TABLES
7.1 LIST OF ASSUMPTIONS
7.1.1
7.2 US MARKET SIZE ESTIMATES; FORECAST
7.2.1 BY TYPE, 2025-2035 (USD Million)
7.2.2 BY DISORDER TYPE, 2025-2035 (USD Million)
7.2.3 BY END USER, 2025-2035 (USD Million)
7.3 PRODUCT LAUNCH/PRODUCT DEVELOPMENT/APPROVAL
7.3.1
7.4 ACQUISITION/PARTNERSHIP
7.4.1

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US Chemicals and Materials Market Segmentation

Chemicals and Materials By Type (USD Million, 2025-2035)

carrier testing
diagnostic testing
new-born screening
predictive & pre-symptomatic testing
prenatal testing
others

Chemicals and Materials By Disorder Type (USD Million, 2025-2035)

cystic fibrosis
sickle cell anemia
severe combined immunodeficiency (SCID)
Tay-Sachs disorder
polycystic kidney disorder
Gaucher's disease
Huntington's disease
neurofibromatosis
thalassemia
familial hypercholesterolemia
others

Chemicals and Materials By End User (USD Million, 2025-2035)

hospitals
ambulatory surgical centers (ASCs)
specialized clinics

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