Company lists · Data refreshed September 2026
Top 25 Rare disease diagnosis platforms based in the United States
RevenueBase identified 185 rare disease diagnosis platforms headquartered in the United States as of September 2026 and tracks 4,552 professional contacts across them, including 2,314 with verified work emails. Boston is the largest hub.
This list covers rare disease diagnosis platforms headquartered in the United States, 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.
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 based in the United States
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 | 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. | |||||
| 3 | 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. | |||||
| 4 | 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. | |||||
| 5 | 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. | |||||
| 6 | 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. | |||||
| 7 | 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. | |||||
| 8 | 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. | |||||
| 9 | 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. | |||||
| 10 | 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. | |||||
| 11 | 76 contacts → | ||||
Partial evidence “Clear Labs harnesses the power of next-generation sequencing (NGS) to simplify complex diagnostics for clinical and applied markets.” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 12 | 73 contacts → | ||||
Indirect evidence “BIOMAKERS is a global Precision Medicine Company that produces complex & advanced genomic data + RWE to make cancer patients live longer and transform oncology data-driven Drug…” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 13 | 73 contacts → | ||||
Strong evidence “InVivo Biosystems accelerates drug discovery for neurological, metabolic, and rare monogenic diseases through its premier proprietary platform, RapidGen™.” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 14 | 70 contacts → | ||||
Indirect evidence “Inocras is a bioinformatics-led company redefining precision health through whole genome data and proprietary analytics.” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 15 | 55 contacts → | ||||
Indirect evidence “Spear Bio, founded in 2021, is a well-funded and rapidly growing start-up headquartered in Woburn, Massachusetts.” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 16 | 53 contacts → | ||||
Partial evidence “Safe Health Systems, Inc.(“SAFE”) is a digital healthcare company operated in collaboration with Mayo Clinic focused on enabling decentralized “connected diagnostics” as part of…” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 17 | 52 contacts → | ||||
Partial evidence “GenePath Diagnostics is a next generation molecular genetics company that provides state-of-the-art clinical in vitro diagnostic services for developing markets and is developing…” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 18 | 45 contacts → | ||||
Partial evidence “At Genospace, our mission is to deliver the platform that makes biomedical data useful and usable by everyone.” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 19 | 43 contacts → | ||||
Strong evidence “Selux Diagnostics is developing a Next Generation Phenotyping (NGP) platform that promises to transform infectious disease patient treatment by dramatically increasing the speed…” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 20 | 39 contacts → | ||||
Partial evidence “Every diagnosis begins with a question.” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 21 | 39 contacts → | ||||
Strong evidence “Seek Labs is building a programmable disease-response platform.” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 22 | 36 contacts → | ||||
Strong evidence “TPIRC is a non-profit clinical care and research center that focuses on the development of cutting-edge, individualized treatment protocols for rare and orphan diseases utilizing…” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 23 | 35 contacts → | ||||
Indirect evidence “At Fabric Genomics, now a GeneDx company, we are accelerating the future of precision medicine.” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 24 | 34 contacts → | ||||
Strong evidence “Sunbird Bio is enabling precision neurology through the development of SunbirdDx, a comprehensive blood-based diagnostic platform designed to support earlier, more accurate…” Source: RevenueBase Database · checked Sep 29, 2026Thanks. The Data Team will review it. | |||||
| 25 | 31 contacts → | ||||
Strong evidence “Rare Genomics Institute (RG) was founded in 2011 to fill the health care gap for undiagnosed rare disease patients and supporting research in rare diseases.” 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 185 rare disease diagnosis platforms based in the United States
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Rare disease diagnosis platforms based in the United States at a glance
As of Sep 29, 2026Companies by employee count
Email recency for this list is measured worldwide rather than for United States, so it is reported there. Company counts and contact totals on this page are exact for United States, over 185 companies.
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.
- What qualifies
- Companies headquartered in the United States 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. Companies headquartered outside United States are excluded even when they keep an office there.
- 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, 2,314 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.
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 based in the United States?
RevenueBase identified 185 rare disease diagnosis platforms headquartered in the United States 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 city has the most rare disease diagnosis platforms?
Boston leads with 9 headquartered companies, followed by San Francisco (7) and Houston (6).
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 2,314 verified decision-maker contacts tracked across these 185 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.
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