Company lists · Data refreshed September 2026

Top 25 Rare disease diagnosis platforms worldwide

RevenueBase identified 640 company matches for 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 company matches for rare disease diagnosis platforms worldwide, found by RevenueBase SmartSearch using the meaning of business descriptions in its company graph at Exact. Ranked by professionals tracked, largest first. Rows show recorded descriptions where available, Exact search membership and the snapshot date. 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 SmartSearch, 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.

How to read this list RevenueBase SmartSearch · Exact Recorded Sep 29, 2026 How this list was built
640Companies
11,741Contacts tracked
4,500Verified emails
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The 25 largest rare disease diagnosis platforms worldwide

Ranked by team size
Top 25 of 640 company matches for rare disease diagnosis platforms worldwide, ordered by professional contacts tracked in RevenueBase, largest first. Recorded Sep 29, 2026. The RevenueBase SmartSearch column shows Exact match membership in this saved search. Click a contact count to view that company's people. Totals use company locations recorded by RevenueBase; the displayed preview is a smaller selection.
#CompanyRevenueBase SmartSearchHeadquartersEmployeesContacts
1Exact matchStamford, CT, United StatesHQ recorded Sep 29, 20261,001-5,0001,048 contacts →

Exact match

“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.”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
2Exact matchRolle, FranceHQ recorded Sep 29, 2026201-500527 contacts →

Exact match

“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.”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
3Exact matchRostock, GermanyHQ recorded Sep 29, 2026501-1,000470 contacts →

Exact match

“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…”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
4Exact matchChennai, IndiaHQ recorded Sep 29, 2026n/a397 contacts →

Exact match

“Take is building India's personal health intelligence ecosystem, AI-powered diagnostics, personalised supplementation, and continuous care, connected in one platform.”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
5Exact matchValencia, SpainHQ recorded Sep 29, 2026201-500217 contacts →

Exact match

“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…”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
6Exact matchVista, CA, United StatesHQ recorded Sep 29, 202651-200215 contacts →

Exact match

“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…”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
7Exact matchBerlin, GermanyHQ recorded Sep 29, 202651-200215 contacts →

Exact match

“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.”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
8Exact matchFramingham, MA, United StatesHQ recorded Sep 29, 202651-200214 contacts →

Exact match

“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…”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
9Exact matchBelfast, United KingdomHQ recorded Sep 29, 202651-200213 contacts →

Exact match

“At Diaceutics we believe that every patient should have access to the right treatment at the right time.”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
10Exact matchGosselies, BelgiumHQ recorded Sep 29, 2026201-500212 contacts →

Exact match

“L'Institut de Pathologie et de génétique est un acteur de santé incontournable dans la prise en charge des patients et de leur famille.”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
11Exact matchEspoo, FinlandHQ recorded Sep 29, 2026201-500198 contacts →

Exact match

“Blueprint Genetics is a genetic diagnostics company focused on inherited diseases.”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
12Exact matchSan Diego, CA, United StatesHQ recorded Sep 29, 2026201-500181 contacts →

Exact match

“Singular is delivering the future of spatial pathology.”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
13Exact matchElche, SpainHQ recorded Sep 29, 2026201-500175 contacts →

Exact match

“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.”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
14Exact matchCambridge, United KingdomHQ recorded Sep 29, 202651-200171 contacts →

Exact match

“Owlstone Medical is developing a breathalyzer for disease.”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
15Exact matchPensacola, FL, United StatesHQ recorded Sep 29, 202651-200168 contacts →

Exact match

“Bionews is a digital health solutions company dedicated to empowering more than 50 rare disease communities with trusted information, news, and connections.”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
16Exact matchTel Aviv, IsraelHQ recorded Sep 29, 202651-200162 contacts →

Exact match

“Scopio Labs is transforming cell morphology analysis, offering fully digital applications, platforms, and diagnostic support that enhance clinical workflows.”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
17Exact matchIndianapolis, IN, United StatesHQ recorded Sep 29, 202651-200160 contacts →

Exact match

“Roche is dedicated to advancing personalized healthcare by creating diagnostics and treatments tailored to individual genetic and disease profiles.”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
18Exact matchMenlo Park, CA, United StatesHQ recorded Sep 29, 2026201-500152 contacts →

Exact match

“HALO Precision Diagnostics™ changes patient lives and outcomes through early detection of the leading causes of death with precision diagnostics.”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
19Exact matchBarueri, BrazilHQ recorded Sep 29, 202651-200123 contacts →

Exact match

“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…”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
20Exact matchPhiladelphia, PA, United StatesHQ recorded Sep 29, 202651-200116 contacts →

Exact match

“Proscia brings enterprise-grade intelligence to pathology, powering precision medicine from discovery to diagnosis.”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
21Exact matchJakarta Timur, IndonesiaHQ recorded Sep 29, 202651-20088 contacts →

Exact match

“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…”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
22Exact matchCleveland, OH, United StatesHQ recorded Sep 29, 202651-20084 contacts →

Exact match

“Cleveland Diagnostics has unlocked the diagnostic power of protein structure with its revolutionary IsoClear™ platform to develop novel diagnostics based on protein…”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
23Exact matchZug, SwitzerlandHQ recorded Sep 29, 202651-20084 contacts →

Exact match

“At RGCC, we are at the forefront of revolutionizing healthcare through personalized solutions for cancer and chronic diseases.”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
24Exact matchLexington, MA, United StatesHQ recorded Sep 29, 202651-20083 contacts →

Exact match

“T2 Biosystems is developing innovative diagnostic products to improve patient health.”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase
25Exact matchUppsala, SwedenHQ recorded Sep 29, 202651-20082 contacts →

Exact match

“At Q-linea, we design, develop, and deliver innovative technology to aid physicians and technicians to improve patient outcomes and save lives.”

Recorded in the RevenueBase company graph · Sep 29, 2026 · View company records in RevenueBase

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, 2026
38.3%Verified-email coverage
18.3Average contacts per company
1-10Median size (employees)
1.4%Largest-city concentration · Boston
Sep 29, 2026Page data refreshed

Companies by employee count

1-10
346
11-50
208
51-200
62
201-500
17
501-1,000
3
1,001-5,000
4

Email recency is reported on each country list linked below.

How this list was built

The recorded descriptions help you assess these company matches. Check a company’s website for its current services and locations.

Source
The RevenueBase company graph: 60 million companies and 398.9 million professional contacts resolved from primary sources, queried with RevenueBase SmartSearch, 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
Company records worldwide whose business descriptions match “rare disease diagnosis platforms” by meaning at the Exact setting. Descriptions are compiled in the RevenueBase company graph from public websites, profiles and company information where available; they are not guaranteed quotations from the company's website.
RevenueBase SmartSearch
Describe a niche company in your own words to find businesses by meaning. Exact, Similar, Related and Broad control the breadth of RevenueBase SmartSearch. This saved list uses Exact. Each row's Exact match badge shows inclusion in that search, not an individual score or a service-quality judgment.
Public preview
The public preview omits records without a verified work email. Dataset totals and geographic summaries describe the full matched records before these preview filters.
Match quality
RevenueBase's August 25, 2026 study assessed 4,198 description/company pairs across matching settings. The publisher reports 86% good or better at Exact. This evaluates the method across queries; it does not audit this individual list. Recorded company descriptions, where available, help you judge each match yourself. Read the full methodology: how the lists are built and what the study measures.
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 displayed company carries at least one verified work email. RevenueBase tracks 4,500 professional contacts with verified work emails across the full matched dataset. 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.
Record context
Company records and descriptions can change. Check the company's website for its current services and locations.

Rare disease diagnosis platforms by location

5 lists · largest first

Every 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 SmartSearch?

RevenueBase SmartSearch finds niche companies by the meaning of their business descriptions in the RevenueBase company graph. Exact, Similar, Related and Broad control how closely companies must fit your description. This list uses Exact for “rare disease diagnosis platforms”; each Exact match badge shows search membership, not an individual similarity or quality score.

How many rare disease diagnosis platforms are there worldwide?

RevenueBase identified 640 company matches for rare disease diagnosis platforms worldwide as of September 2026, using the meaning of business descriptions at Exact. This is the recorded matched set in the RevenueBase company graph.

What is the largest company on this list?

Genedx tops the displayed preview by professional contacts tracked in RevenueBase. Recorded headquarters appear in the company rows.

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 company records, 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 limited free results with 500 credits to start. Upgrading provides access to the 4,500 professional contacts with verified work emails tracked across these 640 companies; direct dials are available where recorded.

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 SmartSearch, 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.