Company lists · Data refreshed September 2026
Top 25 Rare disease diagnosis platforms worldwide
RevenueBase identified 640 rare disease diagnosis platforms worldwide as of September 2026 and tracks 11,741 professional contacts across them, including 4,500 with verified work emails. The United States is the largest market and Boston the largest hub.
This list covers rare disease diagnosis platforms 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 29, 2026. Country and city lists for rare disease diagnosis platforms 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 diagnosis platforms worldwide
Ranked by team size| # | Company | Contacts | |||
|---|---|---|---|---|---|
| 1 | 1,048 contacts → | ||||
Indirect 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 29, 2026Thanks. The Data Team will review it. | |||||
| 2 | 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 29, 2026Thanks. The Data Team will review it. | |||||
| 3 | 470 contacts → | ||||
Partial 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 29, 2026Thanks. The Data Team will review it. | |||||
| 4 | 397 contacts → | ||||
Strong evidence “Take is building India's personal health intelligence ecosystem, AI-powered diagnostics, personalised supplementation, and continuous care, connected in one platform.” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 5 | 217 contacts → | ||||
Partial evidence “Health in Code is a leading biotechnology company with a clear mission: to identify health conditions that can benefit from genetic diagnosis and to develop and deliver advanced…” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 6 | 215 contacts → | ||||
Partial evidence “Our mission is to bring clarity to complex autoimmune diseases by empowering physicians, and our partners across healthcare and biopharma, with advanced testing solutions that…” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 7 | 215 contacts → | ||||
Indirect evidence “Ada is pioneering a new way of patient finding, meeting people at the moment they search for answers and guiding them to the right care faster.” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 8 | 214 contacts → | ||||
Strong evidence “Variantyx is a technology-driven precision medicine company providing state-of-the-art diagnostic solutions for the rare genetic disorders and reproductive genetics markets, and…” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 9 | 213 contacts → | ||||
Indirect evidence “At Diaceutics we believe that every patient should have access to the right treatment at the right time.” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 10 | 212 contacts → | ||||
Indirect evidence “L'Institut de Pathologie et de génétique est un acteur de santé incontournable dans la prise en charge des patients et de leur famille.” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 11 | 198 contacts → | ||||
Strong evidence “Blueprint Genetics is a genetic diagnostics company focused on inherited diseases.” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 12 | 181 contacts → | ||||
Indirect evidence “Singular is delivering the future of spatial pathology.” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 13 | 175 contacts → | ||||
Indirect evidence “Te damos la bienvenida a Futurs, donde la experiencia clínica y la tecnología más innovadora se unen para crear una nueva forma de entender la salud.” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 14 | 171 contacts → | ||||
Partial evidence “Owlstone Medical is developing a breathalyzer for disease.” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 15 | 168 contacts → | ||||
Strong evidence “Bionews is a digital health solutions company dedicated to empowering more than 50 rare disease communities with trusted information, news, and connections.” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 16 | 162 contacts → | ||||
Strong evidence “Scopio Labs is transforming cell morphology analysis, offering fully digital applications, platforms, and diagnostic support that enhance clinical workflows.” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 17 | 160 contacts → | ||||
Strong evidence “Roche is dedicated to advancing personalized healthcare by creating diagnostics and treatments tailored to individual genetic and disease profiles.” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 18 | 152 contacts → | ||||
Partial evidence “HALO Precision Diagnostics™ changes patient lives and outcomes through early detection of the leading causes of death with precision diagnostics.” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 19 | 123 contacts → | ||||
Partial evidence “Portal Telemedicina is a digital healthcare company from Brazil that provides reliable, fast, and low-cost diagnostics to hundreds of cities nationwide, by allowing doctors to…” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 20 | 116 contacts → | ||||
Partial evidence “Proscia brings enterprise-grade intelligence to pathology, powering precision medicine from discovery to diagnosis.” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 21 | 88 contacts → | ||||
Partial evidence “Nusantics is the most established precision molecular diagnostics company in Indonesia that builds PCR and Next Generation Sequencing-based solutions to close the diagnostics gap…” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 22 | 84 contacts → | ||||
Strong evidence “Cleveland Diagnostics has unlocked the diagnostic power of protein structure with its revolutionary IsoClear™ platform to develop novel diagnostics based on protein…” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 23 | 84 contacts → | ||||
Partial evidence “At RGCC, we are at the forefront of revolutionizing healthcare through personalized solutions for cancer and chronic diseases.” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 24 | 83 contacts → | ||||
Partial evidence “T2 Biosystems is developing innovative diagnostic products to improve patient health.” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 25 | 82 contacts → | ||||
Indirect evidence “At Q-linea, we design, develop, and deliver innovative technology to aid physicians and technicians to improve patient outcomes and save lives.” Source: RevenueBase Database · checked Sep 29, 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 diagnosis platforms. 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 diagnosis platforms.
- Partial evidence
- Its own public description names part of rare disease diagnosis platforms, so it works in or next to the category without describing itself that way.
- Indirect evidence
- The description shown does not name rare disease diagnosis platforms. 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 640 rare disease diagnosis platforms worldwide
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Rare disease diagnosis platforms worldwide at a glance
As of Sep 29, 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 diagnosis platforms, 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 diagnosis platforms are linked below.
- What qualifies
- Companies worldwide whose own description of what they do matches “rare disease diagnosis platforms”. 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 diagnosis platforms), 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 diagnosis platforms, 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, 4,500 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 29, 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 diagnosis platforms by location
5 lists · largest firstEvery Rare disease diagnosis platforms list RevenueBase publishes, by country and city. Counts are matching companies in each list as of its own refresh date.
Countries
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 diagnosis platforms, 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 diagnosis platforms are there worldwide?
RevenueBase identified 640 rare disease diagnosis platforms 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?
Genedx, headquartered in Stamford, tops this list with the largest team on record.
Which country has the most rare disease diagnosis platforms?
The United States leads with 185 companies, followed by the United Kingdom (37) and Germany (35). Every rare disease diagnosis platforms list by country and city is linked on this page.
Which city has the most rare disease diagnosis platforms?
Boston leads with 9 headquartered companies, followed by Berlin (8) and Cambridge (8).
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 4,500 verified decision-maker contacts tracked across these 640 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 29, 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.