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VM Intelligence · Sample preview · Healthcare and Pharmaceuticals · Forecast 2027–2033
Expanded Carrier Screening Market
- By Test Type: Preconception Carrier Screening, Prenatal Carrier Screening, Newborn Screening, Diagnostic Carrier Screening, Targeted Mutation Analysis
- By Technology: Next-Generation Sequencing (NGS), Microarray Analysis, Polymerase Chain Reaction (PCR), Sanger Sequencing, Multiplex Ligation-dependent Probe Amplification (MLPA)
- By Application: Genetic Counseling, Risk Assessment, Disease Prevention, Reproductive Planning, Personalized Medicine
- By End User: Hospitals and Clinics, Diagnostic Laboratories, Research Institutes, Fertility Centers, Genetic Counseling Centers
Key Highlights
A snapshot of what the full report proves- 01 Market size - $X,XXX.XM global market in 2025 - the verified base-year revenue. Executive Summary →
- 02 Forecast - Full 2033 market projection modelled inside - unlock the forecast value to see where the market lands. Market Outlook →
- 03 Growth - Year-by-year CAGR across 2027–2033 - unlock the growth rate and the full model. Market Outlook →
- 04 Leading segment - Preconception Carrier Screening leads By Test Type at XX% share. Market, by Service Type →
- 05 Global coverage - Sized across 5 regions and 20 countries, each broken out by segment. Market, by Geography →
- 06 Competitive landscape - 15 companies profiled with SWOT, benchmarking and market-share analysis. Company Profiles →
Inside the Report
11 chapters · 281 pages- 01 Introduction Definition, segmentation & scope p.12 →
- 02 Research Methodology How the numbers were built p.20 →
- 03 Executive Summary The market in one chapter p.34 →
- 04 Market Outlook Drivers, restraints, trends p.63 →
- 10 Competitive Landscape 5 sections p.170 →
- 11 Company Profiles 15 players: SWOT & benchmarking p.178 →
Full report · locked preview
Everything inside the Expanded Carrier Screening Market report
A complete, evidence-based study - 11 chapters and 118 sections covering market size, segmentation across 4 axes, regional analysis and 15 company profiles, forecast to 2033.
Segmentation covered
Test Type 5
Technology 5
Application 5
End User 5
Companies profiled
Myriad Genetics Inc.
Invitae Corporation
Natera Inc.
Fulgent Genetics Inc.
GeneDx (a subsidiary of OPKO Health
Inc.)
Centogene N.V.
Counsyl (acquired by Myriad Genetics)
Quest Diagnostics Incorporated
Laboratory Corporation of America Holdings (LabCorp)
Ambry Genetics Corporation (a subsidiary of Konica Minolta)
BGI Genomics
+3 more
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15 players profiled - tiered by revenue contribution, footprint and R&D capability.
ACE Matrix · p.153 →Myriad Genetics Inc.
Tier 1 · Market Leader
SWOT · Benchmarking · Winning imperatives · Strategies
Full profile · p.155 →Invitae Corporation
Tier 1 · Market Leader
SWOT · Benchmarking · Winning imperatives · Strategies · Key developments
Full profile · p.160 →Natera Inc.
Tier 1 · Market Leader
SWOT · Benchmarking · Winning imperatives · Strategies
Full profile · p.166 →Fulgent Genetics Inc.
Tier 1 · Market Leader
SWOT · Benchmarking · Winning imperatives · Strategies · Key developments
Full profile · p.173 →GeneDx (a subsidiary of OPKO Health
Tier 1 · Market Leader
SWOT · Benchmarking · Winning imperatives · Strategies
Full profile · p.178 →Inc.)
Tier 1 · Market Leader
SWOT · Benchmarking · Winning imperatives · Strategies · Key developments
Full profile · p.184 →Centogene N.V.
Tier 2 · Established Specialist
Overview · Insights · Product benchmarking · Segment breakdown
Full profile · p.191 →Counsyl (acquired by Myriad Genetics)
Tier 2 · Established Specialist
Overview · Insights · Product benchmarking
Full profile · p.196 →Quest Diagnostics Incorporated
Tier 2 · Established Specialist
Overview · Insights · Product benchmarking
Full profile · p.202 →Laboratory Corporation of America Holdings (LabCorp)
Tier 2 · Established Specialist
Overview · Insights · Product benchmarking · Segment breakdown
Full profile · p.209 →Ambry Genetics Corporation (a subsidiary of Konica Minolta)
Tier 2 · Established Specialist
Overview · Insights · Product benchmarking
Full profile · p.214 →BGI Genomics
Tier 2 · Established Specialist
Overview · Insights · Product benchmarking
Full profile · p.220 →PreventionGenetics
Tier 3 · Niche Player
Overview · Insights · Product benchmarking
Full profile · p.227 →Gene by Gene Ltd.
Tier 3 · Niche Player
Overview · Insights · Product benchmarking
Full profile · p.232 →Pathway Genomics Corporation
Tier 3 · Niche Player
Overview · Insights · Product benchmarking
Full profile · p.238 →Values shown here are illustrative samples for your understanding — not exact figures. The full report contains the real, verified data.
Global · 2025–2033
$8,912M by 2033 · 7.5% CAGR
Market estimates & forecast (USD Million)
Fig. 15 · p.34 →Segment mix, 2033 (% share)
Fig. 16 · p.35 →- Preconception Carrier Screening47.0
- Prenatal Carrier Screening11.3
- Newborn Screening19.1
- Diagnostic Carrier Screening14.0
- Targeted Mutation Analysis8.6
Regions, 2025 → 2033 (USD Mn)
§6.1 · p.75 →North America$1,653M → $2,670M · 6.2%
Europe$1,152M → $1,918M · 6.6%
Asia Pacific$1,052M → $1,938M · 7.9%
Latin America$651.0M → $1,192M · 7.8%
Middle East and Africa$500.8M → $926.6M · 8.0%
Top countries, 2033 (USD Mn)
§6.2 · p.78 →Year-over-year growth (%)
§3.12 · p.44 →7.422026
7.442027
7.452028
7.472029
7.482030
7.482031
7.492032
7.502033
CAGR by region (%)
Fig. 22 · p.71 →Market share by company, 2033 (%)
Fig. 41 · p.152 →- Myriad Genetics Inc.23.5
- Invitae Corporation19.2
- Natera Inc.9.7
- Fulgent Genetics Inc.5.1
- GeneDx (a subsidiary of OPKO Health4.8
- Inc.)9.6
- Others28.1
Segment contribution to growth (%)
Fig. 18 · p.39 →Test Type14.4%
Technology30.3%
Application20.0%
End User35.2%
Competitive positioning (ACE matrix)
Fig. 40 · p.153 →Adoption & penetration (% of addressable)
Fig. 12 · p.31 →Revenue by application (USD Mn)
§5.3 · p.62 →Demand by end-use (USD Mn)
§5.4 · p.66 →Average selling price trend (index, 2025=100)
Fig. 27 · p.58 →Top companies by revenue, 2033 (USD Mn)
Fig. 42 · p.155 →Revenue by region, 2033 (%)
Fig. 20 · p.70 →- North America30.9
- Europe22.2
- Asia Pacific22.4
- Latin America13.8
- Middle East and Africa10.7
Values shown here are illustrative samples for your understanding — not exact figures. The full report contains the real, verified data.
8 players benchmarked across 6 dimensions — scored 0–100 from share, portfolio, reach, innovation, financials and installed base. Methodology · §8.1 · p.160 →
Competitive scorecard (score 0–100)
Table 31 · p.161 →| Company | Market share | Product portfolio | Geographic reach | Innovation & R&D | Financial strength | Customer base | Composite |
|---|---|---|---|---|---|---|---|
| Myriad Genetics Inc. | 81 | 78 | 79 | 87 | 89 | 87 | 84 |
| Invitae Corporation | 69 | 71 | 91 | 88 | 76 | 85 | 80 |
| Natera Inc. | 66 | 80 | 77 | 74 | 68 | 86 | 75 |
| Fulgent Genetics Inc. | 74 | 66 | 62 | 59 | 57 | 75 | 66 |
| GeneDx (a subsidiary of OPKO Health | 53 | 52 | 75 | 58 | 55 | 67 | 60 |
| Inc.) | 62 | 59 | 48 | 55 | 71 | 68 | 61 |
| Centogene N.V. | 63 | 61 | 58 | 56 | 57 | 51 | 58 |
| Counsyl (acquired by Myriad Genetics) | 60 | 43 | 41 | 55 | 40 | 51 | 48 |
Vendor positioning (presence × innovation)
Fig. 43 · p.163 →Strengths profile (top 3 players)
Fig. 44 · p.165 →- Myriad Genetics Inc.
- Invitae Corporation
- Natera Inc.
Capability coverage
§8.3 · p.168 →| Company | Global delivery | R&D depth | Digital platform | Sustainability | After-sales | Custom solutions |
|---|---|---|---|---|---|---|
| Myriad Genetics Inc. | ✓ | ◐ | ◐ | ◐ | ✓ | ✓ |
| Invitae Corporation | ✓ | ◐ | ✓ | ◐ | − | ✓ |
| Natera Inc. | ◐ | ✓ | ◐ | ◐ | ◐ | ✓ |
| Fulgent Genetics Inc. | ◐ | − | − | − | ◐ | ◐ |
| GeneDx (a subsidiary of OPKO Health | − | − | ✓ | ◐ | − | ◐ |
| Inc.) | − | ◐ | ◐ | ◐ | ◐ | − |
| Centogene N.V. | ◐ | − | ◐ | ◐ | ◐ | ◐ |
| Counsyl (acquired by Myriad Genetics) | − | − | − | − | ◐ | ◐ |
✓ Full ◐ Partial − Limited
Overall competitive index (composite, ranked)
Fig. 45 · p.170 →1Myriad Genetics Inc.84
2Invitae Corporation80
3Natera Inc.75
4Fulgent Genetics Inc.66
5Inc.)61
6GeneDx (a subsidiary of OPKO Health60
7Centogene N.V.58
8Counsyl (acquired by Myriad Genetics)48
Competitive tiers
§8.4 · p.172 →Leader2
Set the pace on share, breadth and innovation.
Myriad Genetics Inc.Invitae Corporation
Challenger1
Strong scale, closing on the leaders.
Natera Inc.
Contender4
Focused players with pockets of strength.
Fulgent Genetics Inc.GeneDx (a subsidiary of OPKO HealthInc.)Centogene N.V.
Niche1
Specialists in a single segment or region.
Counsyl (acquired by Myriad Genetics)
Values shown here are illustrative samples for your understanding — not exact figures. The full report contains the real, verified data.
Go-to-market strategy
Land Test Type in North America, then scale across Expanded Carrier Screening Market — a $261M beachhead inside a $4.60B market.
Beachhead (SOM)$261Mobtainable near-term
Serviceable (SAM)$1.58Breachable market
Primary motionDirect + partner-ledgo-to-market
Time to scale6 Qto full motion
Ideal customer profile (who to sell to)
§GTM 1 · p.190 →Champion92 fit
Preconception Carrier Screening
Best fit — highest urgency & budget in Test Type.
Economic buyer80 fit
Prenatal Carrier Screening
Strong fit — clear ROI and a fast path to value.
End user69 fit
Newborn Screening
Emerging fit — growing demand, longer sales cycle.
Market-entry sequence (beachhead → scale)
Fig. GTM 1 · p.192 →Beachhead · 2025–2026
Win Test Type in North America
Concentrated ICP, fastest proof and references.
Expand · 2026–2028
Add Technology & next regions
Repeat the motion in adjacent, look-alike segments.
Scale · 2028–2033
Full-market coverage + Application
Multi-channel, platform & ecosystem plays.
Channel mix (routes to market)
§GTM 3 · p.195 →Direct sales45%
Partner / channel29%
Digital / self-serve19%
Marketplaces7%
Positioning & messaging
§GTM 2 · p.194 →For Test Type leaders who need defensible market intelligence, VM Intelligence is the fastest, source-cited way to size, segment and win Expanded Carrier Screening Market — unlike generic, static research.
Live & source-cited
Every figure triangulated from 600K+ sources and traceable.
Ready in minutes
A full, tailored report compiled on demand — not weeks.
Scope you control
Pick the chapters, regions and companies that matter.
GTM funnel & unit economics (conversion · CAC / LTV)
Fig. GTM 2 · p.198 →Awareness100%
Marketing qualified39%
Sales qualified25%
Evaluation13%
Closed-won6%
$13.9KCAC
$56KLTV
4.0:1LTV : CAC
< 4 moCAC payback
Values shown here are illustrative samples for your understanding — not exact figures. The full report contains the real, verified data.
Investment thesis
Expanded Carrier Screening Market is a resilient opportunity — $7.02B by 2033, compounding at 5.6%.
TAM · 2025$4.52Btoday
TAM · 2033$7.02Bforecast
CAGR5.6%2027–2033
Cumulative$51.2Brevenue opportunity
Market opportunity (TAM · SAM · SOM)
Fig. 3 · p.14 →TAM$7.02BTotal addressable market
SAM$2.46BServiceable available market
SOM$429MServiceable obtainable market
Growth trajectory (USD Million)
Fig. 4 · p.16 →Why invest now
§2.1 · p.10 →5.6% CAGR
Demand compounds through 2033, outpacing GDP across Test Type.
Global tailwinds
North America leads today; fastest gains coming from emerging regions.
Structural shift
Adoption in Test Type moving from early to mainstream — durable secular demand.
Consolidation upside
15+ players, no runaway leader — room to build scale and roll up share.
Investment highlights
§2.2 · p.12 →$7.02BLarge & growingTAM by 2033 at 5.6% CAGR
$2.46BServiceable nowreachable with today’s model
$429MBeachhead winobtainable near-term share
15+Fragmented fieldplayers — consolidation runway
Return scenarios (2033 market value)
Fig. 6 · p.22 →$5.48BBear3.7% CAGR
$7.02BBase5.6% CAGR
$8.99BBull7.5% CAGR
Key risks & mitigants
§9.1 · p.180 →- Input-cost volatilityLong-term supply contracts & hedging
- Regulatory / policy shiftsDiversified exposure across 5 regions
- Technology disruptionR&D pipeline & Technology optionality
- Customer concentrationBroaden installed base beyond top accounts
Values shown here are illustrative samples for your understanding — not exact figures. The full report contains the real, verified data.
Board pack · executive summary
Expanded Carrier Screening Market — a $1.32B market by 2033. Plan: grow share from 6.7% to 13.2%.
Market size · 2033$1.32Btotal addressable
Market CAGR4.2%2027–2033
Target share13.2%from 6.7% today
Revenue ambition$174Mby 2033
Strategic scorecard (current vs 2033 target)
Table 1 · p.6 →| Objective | Current | Target · 2033 | Status |
|---|---|---|---|
| Market share | 6.7% | 13.2% | At risk |
| Revenue | $88M | $174M | Behind |
| Geographic coverage | 2 of 5 regions | 5 of 5 regions | On track |
| Segment coverage | 2 of 4 axes | 4 of 4 axes | At risk |
| Gross margin | 29.7% | 42.3% | At risk |
| Customer retention | 88.5% | 92.3% | At risk |
Where to play (strategic priorities)
§1.2 · p.8 →1
Lead segment
Win in Test Type
Largest revenue pool and fastest secular demand — concentrate to build share here first.
2
Geographic
Expand across North America & beyond
Deepen the leading region, then scale into the fastest-growing emerging markets.
3
Adjacency
Build Technology capability
A defensible second engine — invest in Technology to widen the moat and cross-sell.
Strategic roadmap (2025–2033)
Fig. 1 · p.10 →Phase 1 · Foundation
2025–2027
- Secure core Test Type share
- Fix unit economics
- Stand up data & ops
Phase 2 · Scale
2028–2030
- Enter new regions
- Launch Technology
- Selective M&A
Phase 3 · Lead
2031–2033
- Category leadership
- Premium mix & margin
- Platform & ecosystem
Board decisions & asks
§1.4 · p.14 →- Approve $23M capacity & capability investment
- Greenlight bolt-on M&A in Technology
- Authorise North America expansion plan
- Fund R&D program for Test Type leadership
Risk watchlist (RAG)
§9 · p.180 →- Demand / macro slowdownOn track
- Competitive share lossOn track
- Input-cost & supply riskOn track
- Regulatory / policy changeOn track
- Execution & talentOn track
Values shown here are illustrative samples for your understanding — not exact figures. The full report contains the real, verified data.
Sales deck · value proposition
Win the Expanded Carrier Screening Market conversation — a $5.79B market you can size, segment and defend in minutes.
Market size · 2033$5.79Btotal opportunity
Growth10.8%CAGR to 2033
Addressable buyers940+accounts in scope
Typical ROI6.5×in year one
Who buys (target personas)
§1.1 · p.4 →Product / BU leader
Head of Test Type
Goal Grow share in Test Type
Pain Blind spots on demand, pricing & competitors.
Regional GM
North America lead
Goal Prioritise the right markets
Pain No granular, country-level view of the market.
M&A / strategy
Strategy & Corp Dev
Goal Find where to invest or acquire
Pain Slow, inconsistent third-party research.
From pain to solution
§1.2 · p.6 →Decisions made on stale, generic dataLive, source-cited figures, continuously updated
Weeks waiting on a research vendorA full report compiled in minutes
No view of competitors or whitespaceCompany profiles, ACE matrix & benchmarking
Hard to defend the numbers internallyEvery figure traceable to its original source
The business case (ROI)
Fig. 2 · p.9 →6.5×return on cost, year one
< 3 mopayback period
$47K+research cost avoided
10×faster than a custom study
Time to insight
Cost to run
Risk of a wrong call
Why buyers trust it (proof points)
§1.3 · p.12 →600K+source studies indexed
100%analyst-reviewed
15+players profiled in this market
Coverage includes
Myriad Genetics Inc.Invitae CorporationNatera Inc.Fulgent Genetics Inc.GeneDx (a subsidiary of OPKO HealthInc.)Centogene N.V.Counsyl (acquired by Myriad Genetics)+7 more
Objection handling
§1.4 · p.14 →“We already have market data.”
This triangulates 600K+ sources into one current, defensible view — not another silo.
“How do we know it’s accurate?”
Analyst-reviewed, and every figure is source-cited and traceable to its origin.
“It’s not in the budget.”
A fraction of a single analyst-day — and it pays back on the first decision it informs.
“We need it tailored to us.”
Choose the chapters, regions and companies before you build — you only pay for scope.
What you get (packages)
§1.5 · p.16 →Report
- Full multi-chapter report
- Market size, share & forecast
- Segment & regional breakdowns
- PDF + editable Excel + PPT
Most popular
Report + Add-ons
- Everything in Report
- Interactive Visualizer
- Competitive benchmarking
- Investor / board / sales decks
Enterprise
- Multiple reports & markets
- Team seats & sharing
- Analyst support & custom scope
- API / data-feed options
Almost there
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