Genetic Testing Market Report: 2027-2031 Forecast, Technology and Policy Outlook by Application, Technology, Sample Type, Customer, Product and Country - Strategic Analysis of 48 Companies

1.1 Situation Analysis
1.2 Market Snapshot
1.3 Key Findings
1.4 Investment & Strategic Thesis

2.1 Scope & Market Definition
2.2 Relationship to Other Howe Sound Research Reports
2.3 Value Basis
2.4 Market Segments
2.5 Geographic Coverage
2.6 Methodology
2.7 Sources
2.8 Author
2.9 Limitations

3.1 What Genetic Tests Find
3.2 Germline and Somatic Testing
3.3 The Main Technologies: PCR, NGS, Cytogenetics and Microarray
3.4 Samples and the Testing Workflow
3.5 A Short History of Genetic Testing
3.6 The Industry and Its Channels

4.1 Global Market Overview by Country
4.2 Global Market by Application - Overview
4.3 Global Market by Technology - Overview
4.4 Global Market by Sample Type - Overview
4.5 Global Market by Customer - Overview
4.6 Global Market by Product - Overview

5.1 Market Overview
5.2 The RUSP and the End of the Advisory Committee
5.3 State Programmes and the Dried Blood Spot Workflow
5.4 Suppliers: Revvity and Others
5.5 Genomic Newborn Screening
5.6 International Programmes and Outlook

6.1 Market Overview
6.2 Cell-free DNA Screening
6.3 Single-gene NIPT, Fetal Antigen Tests and Combined Screens
6.4 Carrier Screening
6.5 Preimplantation Testing and Prenatal Diagnosis
6.6 Companies, Pricing and Outlook

7.1 Market Overview
7.2 Hereditary Cancer
7.3 Cardiovascular, Rare Disease, Predictive and Carrier Testing
7.4 Laboratories and Channels
7.5 Pricing and Payers
7.6 Outlook

8.1 The Largest Application
8.2 Tumour Profiling and Companion Diagnostics
8.3 Minimal Residual Disease and Monitoring
8.4 Early Detection in Brief
8.5 Laboratories, Prices and Outlook

9.1 Two Applications, One Theme
9.2 Direct-to-Consumer Testing
9.3 Genetic Privacy Laws and the DOJ Data Rule
9.4 Pharmacogenomics
9.5 Outlook

10.1 Four Technologies, One Market
10.2 PCR: Fast, Cheap and Everywhere
10.3 NGS: The Growth Engine
10.4 Cytogenetics, Microarrays and Optical Genome Mapping
10.5 Other Methods
10.6 Cost, Turnaround and Technology Choice

11.1 Policy Shapes Genetic Testing
11.2 US Reimbursement: The 2027 Medicare Reset
11.3 FDA, LDTs and Newborn Screening Policy
11.4 Europe, China and the Rest of the World
11.5 Genetic Privacy and Data Security
11.6 Policy Outlook

12.1 CMS Publishes Preliminary 2027 Medicare Lab Rates
12.2 Duchenne and MLD Added to the Newborn Screening Panel
12.3 HRSA Funds a National Newborn Screening Workgroup
12.4 Myriad Genetics Cuts 2026 Revenue Guidance
12.5 Myriad Launches the FirstGene Prenatal Screen
12.6 Quest Diagnostics Raises 2026 Guidance on Volume Growth
12.7 European Commission Proposes Simpler MDR and IVDR
12.8 US DOJ Bulk Sensitive Data Rule Fully in Force
12.9 Rhode Island Enacts a Genetic Information Privacy Act
12.10 BillionToOne Launches Fetal Antigen NIPTs

13.1 From Sample to Report
13.2 Automation and Turnaround
13.3 Cost per Test and Laboratory Economics
13.4 Consolidation and Outreach Laboratory Purchases
13.5 Reagent Supply and Trade Risk
13.6 Staffing and Operational Outlook

14.1 Structure of Competition
14.2 Tiers of Players
14.3 Leading Players by Role
14.4 Consolidation and Notable Acquisitions
14.5 Competitive Dynamics
14.6 Outlook for Competition

15.1 SWOT Analysis
15.2 Porter's Five Forces
15.3 Investment Risk Analysis

16.1 Guidance for Executives, Marketing, Sales and Business Development
16.2 Guidance for Management Consultants and Investment Advisors

17.1 Newborn Screening
17.2 NIPT & Prenatal
17.3 Predictive & Carrier
17.4 Oncology
17.5 Direct-to-Consumer
17.6 Pharmacogenomics
17.7 Other

18.1 PCR
18.2 NGS
18.3 Cytogenetics & Microarray
18.4 Other

19.1 Blood & Plasma
19.2 Saliva & Buccal
19.3 Tissue
19.4 Dried Blood Spot & Other

20.1 Academic
20.2 Clinical Labs & Hospitals
20.3 Pharma & Biotech
20.4 Industry & Other

21.1 Instruments
21.2 Reagents & Kits
21.3 Software
21.4 Services

22.1 23andMe Research Institute (TTAM)
22.2 Abbott Molecular
22.3 Agilent Technologies
22.4 Ambry Genetics (Tempus)
22.5 Ancestry
22.6 ARUP Laboratories
22.7 Baebies
22.8 Baylor Genetics
22.9 Becton, Dickinson and Company (BD)
22.10 BGI Genomics
22.11 BillionToOne
22.12 Bionano
22.13 Bio-Rad Laboratories
22.14 Caris Life Sciences
22.15 Centogene
22.16 Color Health
22.17 Eurofins Scientific
22.18 Exact Sciences (Abbott)
22.19 Foundation Medicine (Roche)
22.20 Fulgent Genetics
22.21 GeneDx
22.22 Genomind
22.23 GRAIL
22.24 Guardant Health
22.25 Helix
22.26 Hologic
22.27 Illumina
22.28 KingMed Diagnostics
22.29 Labcorp (including Invitae assets)
22.30 MGI Tech
22.31 MyHeritage
22.32 Myriad Genetics
22.33 Natera
22.34 Nebula Genomics (DNA Complete)
22.35 NeoGenomics
22.36 Nucleus Genomics
22.37 Oxford Nanopore Technologies
22.38 Pacific Biosciences
22.39 Qiagen
22.40 Quest Diagnostics
22.41 Revvity
22.42 Roche Diagnostics
22.43 Sequencing.com
22.44 Sonic Healthcare
22.45 Tempus AI
22.46 Thermo Fisher Scientific
22.47 Trajan Scientific and Medical (and other dried blood spot suppliers)
22.48 Veracyte

23.1 Abbreviations
23.2 Developments Archive
23.3 Report Limitations Restated

Table 1 Key Market Indicators (constant 2026 US$)
Table 2 Global Market by Segment, 2026 and 2031 (US$ millions, constant 2026 dollars)
Table 3 How This Report Relates to the GENSEQ and GENWHOLE Reports
Table 4 Purposes of Genetic Testing and Their Application Segments
Table 5 Genetic Testing Technologies, Market Size 2026 and 2031
Table 6 Genetic Testing Market by Sample Type, 2026 and 2031
Table 7 Milestones in Genetic Testing
Table 8 Genetic Testing Market by Customer and by Product, 2026 and 2031
Table 9 Global Market by Country
Table 10 Global Market by Application
Table 11 Global Market by Technology
Table 12 Global Market by Sample Type
Table 13 Global Market by Customer
Table 14 Global Market by Product
Table 15 Newborn Screening and Dried Blood Spot Markets, 2026 and 2031
Table 16 US Newborn Screening Policy Timeline
Table 17 Newborn Screening Methods on the Dried Blood Spot
Table 18 Selected Newborn Screening Suppliers
Table 19 Newborn Screening Programmes by Region
Table 20 Prenatal and Reproductive Genetic Tests
Table 21 Leading Companies in Prenatal and Reproductive Testing
Table 22 Predictive & Carrier Testing Market, 2026 and 2031
Table 23 Leading Providers of Predictive, Carrier and Hereditary Testing
Table 24 Factors Affecting Volume and Price in Predictive & Carrier Testing
Table 25 Oncology Genetic Testing Market, 2026 and 2031
Table 26 Leading Oncology Genetic Testing Providers, 2026
Table 27 Direct-to-Consumer and Pharmacogenomics Markets, 2026 and 2031
Table 28 Selected Direct-to-Consumer Genetic Tests
Table 29 Selected Genetic Privacy Measures Affecting Genetic Testing, 2025-2026
Table 30 Genetic Testing Market by Technology, 2026 and 2031
Table 31 Indicative Cost and Turnaround of Main Genetic Test Types, 2026
Table 32 Key Regulatory, Reimbursement and Policy Factors, October 2026
Table 33 Main Features of the Preliminary 2027 Medicare Laboratory Rates
Table 34 Recent Developments at a Glance
Table 35 Genetic Testing Market by Sample Type, 2026 and 2031
Table 36 Main Cost Elements in a Genetic Testing Laboratory
Table 37 Selected Hospital Laboratory Transactions by Labcorp and Quest, December 2024 to January 2026
Table 38 Competitive Structure by Application
Table 39 Tiers of Genetic Testing Competitors
Table 40 Selected Genetic Testing Laboratories
Table 41 Selected Genetic Testing Suppliers
Table 42 Notable Acquisitions in Genetic Testing, 2024-2026
Table 43 SWOT Analysis - Strengths and Weaknesses
Table 44 SWOT Analysis - Opportunities and Threats
Table 45 Porter's Five Forces Ratings
Table 46 Investment Risk Matrix
Table 47 Selected Growth Opportunities
Table 48 Newborn Screening by Country
Table 49 NIPT & Prenatal by Country
Table 50 Predictive & Carrier by Country
Table 51 Oncology by Country
Table 52 Direct-to-Consumer by Country
Table 53 Pharmacogenomics by Country
Table 54 Other by Country
Table 55 PCR by Country
Table 56 NGS by Country
Table 57 Cytogenetics & Microarray by Country
Table 58 Other by Country
Table 59 Blood & Plasma by Country
Table 60 Saliva & Buccal by Country
Table 61 Tissue by Country
Table 62 Dried Blood Spot & Other by Country
Table 63 Academic by Country
Table 64 Clinical Labs & Hospitals by Country
Table 65 Pharma & Biotech by Country
Table 66 Industry & Other by Country
Table 67 Instruments by Country
Table 68 Reagents & Kits by Country
Table 69 Software by Country
Table 70 Services by Country
Table 71 Developments Archive: Items from 2024-2025 in the Previous Edition

Figure 1 Key Graphic - NGS Takes Over: Genetic Testing Market by Technology, 2026 vs 2031
Figure 2 DNA Strands and Chromosomes
Figure 3 Karyogram of Human Chromosomes
Figure 4 Global Market Pareto Chart
Figure 5 Global Market by Application - Base vs. Final
Figure 6 Global Market by Application Base Year
Figure 7 Global Market by Application End Year
Figure 8 Application Share by Year
Figure 9 Application Segments Growth
Figure 10 Global Market by Technology - Base vs. Final
Figure 11 Global Market by Technology Base Year
Figure 12 Global Market by Technology End Year
Figure 13 Technology Share by Year
Figure 14 Technology Segments Growth
Figure 15 Global Market by Sample Type - Base vs. Final
Figure 16 Global Market by Sample Type Base Year
Figure 17 Global Market by Sample Type End Year
Figure 18 Sample Type Share by Year
Figure 19 Sample Type Segments Growth
Figure 20 Global Market by Customer - Base vs. Final
Figure 21 Global Market by Customer Base Year
Figure 22 Global Market by Customer End Year
Figure 23 Customer Share by Year
Figure 24 Customer Segments Growth
Figure 25 Global Market by Product - Base vs. Final
Figure 26 Global Market by Product Base Year
Figure 27 Global Market by Product End Year
Figure 28 Product Share by Year
Figure 29 Product Segments Growth
Figure 30 Newborn Screening Growth
Figure 31 NIPT & Prenatal Growth
Figure 32 Predictive & Carrier Growth
Figure 33 Oncology Growth
Figure 34 Direct-to-Consumer Growth
Figure 35 Pharmacogenomics Growth
Figure 36 Other Growth
Figure 37 PCR Growth
Figure 38 NGS Growth
Figure 39 Cytogenetics & Microarray Growth
Figure 40 Other Growth
Figure 41 Blood & Plasma Growth
Figure 42 Saliva & Buccal Growth
Figure 43 Tissue Growth
Figure 44 Dried Blood Spot & Other Growth
Figure 45 Academic Growth
Figure 46 Clinical Labs & Hospitals Growth
Figure 47 Pharma & Biotech Growth
Figure 48 Industry & Other Growth
Figure 49 Instruments Growth
Figure 50 Reagents & Kits Growth
Figure 51 Software Growth
Figure 52 Services Growth