US
Updated
Reviewed by Chandani Patel
US Rare Disease Genetic Testing Market Industry Trends and Forecast to 2034: Segmented by (Test, Patient, End User, Region) - Growth, Market Size, Future Prospects & Competitive Analysis, 2024-2034
US · 2024–2034 · placeholder estimates
Values shown here are placeholder estimates, not researched figures. Researched 2024 historical, 2025 base-year and 2026–2034 forecast values are prepared with the full report.
US (this report) at $765.4 Mn.
Canada at 12.1% a year.Source: Acuitas Health Analytics. Full methods, sources and usage terms come with report purchase.
$995.5 Mn total, 2026–2034
| Year | Market size | Change that year | Since 2025 |
|---|---|---|---|
| 2024 (estimate) | $697.7 Mn | — | — |
| 2025 (base) | $765.4 Mn | +$67.7 Mn | — |
| 2026 (forecast) | $839.6 Mn | +$74.2 Mn | +9.7% |
| 2027 (forecast) | $921.1 Mn | +$81.4 Mn | +20.3% |
| 2028 (forecast) | $1.01 Bn | +$89.3 Mn | +32% |
| 2029 (forecast) | $1.11 Bn | +$98.0 Mn | +44.8% |
| 2030 (forecast) | $1.22 Bn | +$107.5 Mn | +58.9% |
| 2031 (forecast) | $1.33 Bn | +$117.9 Mn | +74.3% |
| 2032 (forecast) | $1.46 Bn | +$129.4 Mn | +91.2% |
| 2033 (forecast) | $1.61 Bn | +$141.9 Mn | +109.7% |
| 2034 (forecast) | $1.76 Bn | +$155.7 Mn | +130.1% |
Placeholder estimates. Each year is projected from our earlier market estimate and its CAGR. Researched values come with the full report.
US (this report)
$765.4 Mn
China
$135.1 Mn
Canada
$125.8 Mn
Japan
$107.4 Mn
Germany
$67.6 Mn
France
$52.8 Mn
UK
$40.7 Mn
Italy
$38.2 Mn
Brazil
$38.3 Mn
Spain
$36.3 Mn
Ecuador
$33.0 Mn
India
$33.1 Mn
Saudi Arabia
$29.8 Mn
Mexico
$27.6 Mn
Russia
$19.3 Mn
New Zealand
$18.6 Mn
Australia
$19.0 Mn
South Africa
$13.0 Mn
UAE
$9.8 Mn
Egypt
$4.9 Mn
Philippines
$3.7 Mn
Malaysia
$2.6 Mn
Hong Kong
$2.4 Mn
Thailand
$2.4 Mn
Singapore
$2.0 Mn
Kenya
$1.2 Mn
| Market size, 2025 | $765.4 Mn placeholder estimate |
|---|---|
| Forecast, 2034 | $1.76 Bn placeholder estimate |
| Growth (CAGR), 2025–2034 | 9.7% placeholder estimate |
| Years | 2024 historical · 2025 base year · 2026–2034 forecast |
| Segments | Test, patient and end user (see all) |
| Key players | GeneDx, Invitae, Blueprint Genetics (Quest), Fulgent Genetics, CENTOGENE (see all) |
| Regulator in the US | FDASource: US Food and Drug Administration. Checked 14 Nov 2026. |
| Formats | PDF, PPTX, XLSX |
Sizes and growth here are placeholder estimates, not researched figures. Researched figures come with the full report.
Rare disease genetic testing uses exome and genome sequencing to find the genetic cause of rare conditions, often in children.
Key segments of the rare Disease Genetic Testing market include test (Whole Exome Sequencing, Whole Genome Sequencing and Gene Panels) and patient (Pediatric, Adult and Prenatal).
The falling cost of DNA sequencing, more targeted medicines, large national genome programmes and growing use of genetic results in everyday care are driving the rare Disease Genetic Testing market.
Routine use of genomics in screening, pharmacy and primary care gives the rare Disease Genetic Testing market large room to grow.
Data privacy concerns, limited reimbursement for some tests, shortages of genetic counsellors and complex data analysis hold back the rare Disease Genetic Testing market.
The rare Disease Genetic Testing market is moderately concentrated. Leading companies compete on product innovation, clinical evidence, pricing and geographic reach, and use partnerships and acquisitions to expand their portfolios.
The FDA clears or approves medical devices by risk class, through 510(k) clearance, De Novo classification or premarket approval (PMA).[1] Medicare covers people aged 65 and over and some younger people with disabilities, and Medicaid covers many people on low incomes; both are run with the Centers for Medicare & Medicaid Services (CMS).[2]
[1] US Food and Drug Administration. Checked 14 Nov 2026.
[2] Centers for Medicare & Medicaid Services. Checked 14 Nov 2026.
Medical device rules, such as the US FDA 510(k) and PMA pathways and the EU Medical Device Regulation, govern how rare Disease Genetic Testing products are approved and monitored. Reimbursement codes and hospital purchasing policies decide how widely they are used in US.
What doctors and scientists are doing in Rare Disease Genetic Testing right now, from free public sources.
Sources: PubMed (US National Library of Medicine), ClinicalTrials.gov, World Bank. Fetched 12 Nov 2026. Papers and trials are found by search words, so the counts are a guide. Titles only; read each paper at its source.
[1] World Bank Open Data, Health spending per person (US$ per person). Retrieved 14 Nov 2026.
[2] World Bank Open Data, Doctors (per 1,000 people). Retrieved 14 Nov 2026.
[3] World Bank Open Data, People aged 65 and over (% of people). Retrieved 15 Nov 2026.
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