Company lists · Data refreshed September 2026
Top 25 Rare disease genomics companies worldwide
RevenueBase identified 1,865 rare disease genomics companies worldwide as of September 2026 and tracks 73,000 professional contacts across them, including 32,127 with verified work emails. The United States is the largest market and Cambridge the largest hub.
This list covers rare disease genomics companies worldwide, matched on what each company actually does as described in its own words. Ranked by team size, largest first. Every row shows the company's own description, its RevenueBase Smart Search rating, and when it was last checked. Data refreshed September 21, 2026. Country and city lists for rare disease genomics companies follow the table.
Published by RevenueBase, a B2B data infrastructure company. This list was built with RevenueBase Smart Search, the natural-language company search RevenueBase customers use to build their own targeted lists and unlock verified emails and direct dials at the companies on them. How these lists are built and judged.
The 25 largest rare disease genomics companies worldwide
Ranked by team size| # | Company | Contacts | |||
|---|---|---|---|---|---|
| 1 | 8,987 contacts → | ||||
Indirect evidence “At Illumina, our goal is to apply innovative technologies and revolutionary assays to the analysis of genetic variation and function, making studies possible that were not even…” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 2 | 6,136 contacts → | ||||
Strong evidence “Alexion, AstraZeneca Rare Disease is focused on pioneering new possibilities for the rare disease community.” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 3 | 5,354 contacts → | ||||
Indirect evidence “Natera™ is a global leader in cell-free DNA and precision medicine, dedicated to oncology, women’s health, and organ health.” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 4 | 3,943 contacts → | ||||
Indirect evidence “Founded in 1997, BioMarin is a global biotechnology company dedicated to transforming lives through genetic discovery.” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 5 | 2,718 contacts → | ||||
Indirect evidence “Myriad Genetics is a leading molecular diagnostic testing and precision medicine company dedicated to advancing health and well-being for all.” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 6 | 1,747 contacts → | ||||
Partial evidence “Foundation Medicine is a global, patient-focused precision medicine company delivering high-quality, transformative diagnostic solutions in cancer and other diseases.” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 7 | 1,556 contacts → | ||||
Indirect evidence “Leading with purpose.” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 8 | 1,359 contacts → | ||||
Strong evidence “Sarepta Therapeutics, headquartered in Cambridge, Massachusetts, is a global biotechnology company on an urgent mission: engineer precision genetic medicine for rare diseases that…” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 9 | 1,048 contacts → | ||||
Partial evidence “We see a world where every genetic condition is understood, and every patient receives the care they need to live their healthiest life through genomics.” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 10 | 957 contacts → | ||||
Indirect evidence “Ambry Genetics, a Tempus company, translates scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind…” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 11 | 954 contacts → | ||||
Partial evidence “MedGenome is a global genomics and precision diagnostics company focused on enabling accurate, early and actionable diagnosis through advanced genomic science.” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 12 | 703 contacts → | ||||
Indirect evidence “Invitae, now part of Labcorp, is a leading medical genetics company trusted by millions of patients and their providers to deliver timely genetic information using digital…” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 13 | 647 contacts → | ||||
Partial evidence “Strand Life Sciences is a renowned global genomics and bioinformatics software and services leader with a primary goal to make precision medicine accessible to everyone.” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 14 | 556 contacts → | ||||
Indirect evidence “Fujirebio is a world leading in vitro diagnostics (IVD) company and innovation-driven content provider, enabling breakthrough diagnostic solutions to reach patients worldwide…” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 15 | 549 contacts → | ||||
Partial evidence “Baylor Genetics is a leading diagnostic genomics partner offering a full spectrum of clinically relevant genetic testing, including Whole Genome Sequencing, Whole Exome…” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 16 | 527 contacts → | ||||
Indirect evidence “LetsGetChecked is proud to be Powered by Fuze Health.” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 17 | 527 contacts → | ||||
Indirect evidence “SOPHiA GENETICS was founded in 2011 by biologists who had a vision to create a technology that could make a positive and lasting impact on the world, using data for good.” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 18 | 522 contacts → | ||||
Partial evidence “Genomics England works with the NHS to bring forward the use of genomic healthcare and research in Britain to help people live longer, healthier lives.” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 19 | 510 contacts → | ||||
Indirect evidence “AskBio Inc, a wholly owned and independently operated subsidiary of Bayer AG, is a fully integrated gene therapy company dedicated to developing life-saving medicines and changing…” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 20 | 491 contacts → | ||||
Strong evidence “Our mission is to identify, develop and deliver life-changing therapies to people living with rare disease.#InRareForLife Community Guidelines…” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 21 | 470 contacts → | ||||
Indirect evidence “CENTOGENE is a leading company in the field of genetic diagnostics and precision medicine, dedicated to transforming clinical, genetic, and biochemical data into medical solutions…” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 22 | 435 contacts → | ||||
Indirect evidence “Our mission is to develop flexible and affordable diagnostics and therapeutics that improve the everyday lives of those around us.” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 23 | 372 contacts → | ||||
Indirect evidence “TGen, a part of City of Hope, is a non-profit 501(c)(3) organization focused on developing earlier diagnostics and smarter treatments.” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 24 | 326 contacts → | ||||
Partial evidence “Sobi is an international specialty healthcare company dedicated to developing treatments and extensive patient support networks for people with rare and difficult to treat…” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
| 25 | 311 contacts → | ||||
Indirect evidence “Corporate Overview Lexicon Pharmaceuticals is a biopharmaceutical company that has harnessed the power of genetics for drug discovery.” Source: RevenueBase Database · checked Sep 21, 2026Thanks. The Data Team will review it. | |||||
RevenueBase Smart Search
RevenueBase Smart Search assesses information from a company’s LinkedIn profile, information supplied directly by the company, its website, and other publicly available sources. It uses that information to rate how closely the company relates to this list’s category: rare disease genomics companies. Every row carries its rating and the description the rating was read from, so each one can be checked rather than taken on trust.
- Strong evidence
- The company's own public description of its business names rare disease genomics companies.
- Partial evidence
- Its own public description names part of rare disease genomics companies, so it works in or next to the category without describing itself that way.
- Indirect evidence
- The description shown does not name rare disease genomics companies. The match rests on the rest of the company's public profile rather than the one sentence quoted here, so this is the rating to check first.
RevenueBase Smart Search is how these lists are built: RevenueBase's data engine and AI assemble the companies that match a category defined in a user's own words, so a list can be about what companies actually do rather than about whichever industry code they were filed under.
Showing 25 of 1,865 rare disease genomics companies worldwide
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Rare disease genomics companies worldwide at a glance
As of Sep 21, 2026Companies by employee count
Email recency is reported on each country list linked below.
How this list was built
Company categories are rarely black and white. RevenueBase reads each company's own description of its business to decide whether it belongs among rare disease genomics companies, so some rows will be adjacent to the category rather than pure plays. The description and RevenueBase Smart Search rating on every row are there so you can check each match yourself.
- Source
- The RevenueBase company graph: 60 million companies and 398.9 million professional contacts resolved from primary sources, queried with RevenueBase Smart Search, the natural-language company search available to every RevenueBase user.
- Coverage
- Every country. Country and city lists for rare disease genomics companies are linked below.
- What qualifies
- Companies worldwide whose own description of what they do matches “rare disease genomics companies”. Matching reads each company's description, not its industry code or its name.
- RevenueBase Smart Search
- RevenueBase Smart Search is how this list is assembled and how each row is rated. RevenueBase's data engine and AI assess a company's LinkedIn profile, information supplied directly by the company, its website and other publicly available information, then relate it to a category defined in a user's own words. Each row is rated strong evidence (its own description names rare disease genomics companies), partial evidence (it names part of the category) or indirect evidence (the description shown names none of it and the match rests on the rest of the company's profile). The description supporting each rating is quoted on the row.
- What we exclude
- Companies whose own description does not clearly place them among rare disease genomics companies, and records with no verified work email.
- Match quality
- In blind human judging of this matching method, 86% of matched companies were on target. Expect roughly 1 in 7 rows to be adjacent to the category rather than a pure play. Every row shows the company's own description and its RevenueBase Smart Search rating so you can judge each match yourself. Read the full methodology: how the lists are built, how the judging worked, and what the figure means.
- Ranking
- Team size, largest first: companies are ordered by the number of professionals RevenueBase tracks at each one. Employee ranges shown are reported bands, for context.
- Verification
- Every listed company carries at least one verified work email, 32,127 across the full list. Contacts re-verify on a rolling cadence, and each contact's own verification date is shown inside RevenueBase.
- Refresh
- This page's figures were pulled from the company graph on September 21, 2026. Lists refresh periodically as the graph is re-checked.
- Corrections
- Wrong category, wrong headquarters, or a company that has closed? Use “Report an issue” on any row. Reports go to the RevenueBase Data Team and feed back into the company graph.
Rare disease genomics companies by location
11 lists · largest firstEvery Rare disease genomics companies list RevenueBase publishes, by country and city. Counts are matching companies in each list as of its own refresh date.
Countries
- Rare disease genomics companies based in the United States529
- Rare disease genomics companies based in India128
- Rare disease genomics companies based in Brazil75
- Rare disease genomics companies based in Spain69
- Rare disease genomics companies based in the United Kingdom61
- Rare disease genomics companies based in Türkiye54
- Rare disease genomics companies based in Germany47
- Rare disease genomics companies based in Italy39
- Rare disease genomics companies based in Canada36
- Rare disease genomics companies based in Australia32
- Rare disease genomics companies based in France25
Frequently asked
What is RevenueBase Smart Search?
RevenueBase Smart Search is how RevenueBase decides which companies belong on this list and how strongly each one fits. Its data engine and AI assess a company's LinkedIn profile, information supplied directly by the company, its website and other publicly available information, then relate it to the category the list is about. Each row is rated strong evidence when the company's own description names rare disease genomics companies, partial evidence when it names part of the category, and indirect evidence when the description shown names none of it and the match rests on the rest of the company's profile.
How many rare disease genomics companies are there worldwide?
RevenueBase identified 1,865 rare disease genomics companies worldwide as of September 2026, matched on each company's own description of what it does rather than its industry code.
What is the largest company on this list?
Illumina, headquartered in San Diego, tops this list with the largest team on record.
Which country has the most rare disease genomics companies?
The United States leads with 529 companies, followed by India (128) and Brazil (75). Every rare disease genomics companies list by country and city is linked on this page.
Which city has the most rare disease genomics companies?
Cambridge leads with 33 headquartered companies, followed by San Diego (27) and Sao Paulo (24).
How do I get contact information for these companies?
A free RevenueBase account lets you run this exact search and work the top results, verified emails and direct dials included. Upgrading unlocks all 32,127 verified decision-maker contacts tracked across these 1,865 companies.
How current is this list?
The list refreshes periodically as the company graph is re-checked. This page's figures were pulled on September 21, 2026.
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About this data
RevenueBase is a B2B data infrastructure company. Its company graph covers 60 million companies and 398.9 million professional contacts, with emails verified on a rolling cadence rather than scraped once and left to decay. These company lists are generated directly from that graph with RevenueBase Smart Search, the same natural-language company search every RevenueBase user has: describe a market in plain words, get the companies that match, and add verified emails and direct dials for the people at them. It is the same data that powers RevenueBase's B2B data products, and a free account includes 500 credits to start. How these lists are built and judged.