Company lists · Data refreshed September 2026

Top 25 Rare disease genetics companies based in the United States

RevenueBase identified 408 rare disease genetics companies headquartered in the United States as of September 2026 and tracks 36,729 professional contacts across them, including 18,490 with verified work emails. San Diego is the largest hub.

This list covers rare disease genetics companies 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 21, 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.

How to read this list HQ checked on every row RevenueBase Smart Search rating on every row Refreshed Sep 21, 2026 86% judged on-target in blind review
408Companies
36,729Contacts tracked
18,490Verified emails
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The 25 largest rare disease genetics companies based in the United States

Ranked by team size
Top 25 of 408 rare disease genetics companies based in the United States, ranked by team size, largest first. Data refreshed Sep 21, 2026. RevenueBase Smart Search rates how each company's information relates to rare disease genetics companies: strong evidence (its own description names it), partial (names part of it), indirect (matched on the rest of its profile rather than the description shown). Click a contact count to view that company's people.
#CompanyRevenueBase Smart SearchHeadquartersEmployeesContacts
1Partial evidenceSan Diego, CA, United StatesHQ checked Sep 21, 20265,001-10,0008,987 contacts →

Partial 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, 2026
2Indirect evidenceAustin, TX, United StatesHQ checked Sep 21, 20265,001-10,0005,354 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, 2026
3Partial evidenceSan Rafael, CA, United StatesHQ checked Sep 21, 20261,001-5,0003,943 contacts →

Partial evidence

“Founded in 1997, BioMarin is a global biotechnology company dedicated to transforming lives through genetic discovery.”

Source: RevenueBase Database · checked Sep 21, 2026
4Partial evidenceSalt Lake City, UT, United StatesHQ checked Sep 21, 20261,001-5,0002,718 contacts →

Partial 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, 2026
5Indirect evidenceNovato, CA, United StatesHQ checked Sep 21, 20261,001-5,0001,556 contacts →

Indirect evidence

“Leading with purpose.”

Source: RevenueBase Database · checked Sep 21, 2026
6Partial evidenceStamford, CT, United StatesHQ checked Sep 21, 20261,001-5,0001,048 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, 2026
7Partial evidenceAliso Viejo, CA, United StatesHQ checked Sep 21, 2026501-1,000957 contacts →

Partial 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, 2026
8Partial evidencePalo Alto, CA, United StatesHQ checked Sep 21, 2026501-1,000837 contacts →

Partial evidence

“We exist to bring transformative medicines to people living with genetic conditions.”

Source: RevenueBase Database · checked Sep 21, 2026
9Partial evidenceSan Francisco, CA, United StatesHQ checked Sep 21, 20261,001-5,000703 contacts →

Partial 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, 2026
10Partial evidenceHouston, TX, United StatesHQ checked Sep 21, 2026501-1,000549 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, 2026
11Indirect evidenceEl Monte, CA, United StatesHQ checked Sep 21, 20261,001-5,000435 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, 2026
12Indirect evidencePhoenix, AZ, United StatesHQ checked Sep 21, 2026201-500372 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, 2026
13Partial evidenceWaltham, MA, United StatesHQ checked Sep 21, 2026201-500326 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, 2026
14Indirect evidencePine Brook, NJ, United StatesHQ checked Sep 21, 2026201-500309 contacts →

Indirect evidence

“With over 18 years of experience in the medical field.”

Source: RevenueBase Database · checked Sep 21, 2026
15Partial evidenceEmeryville, CA, United StatesHQ checked Sep 21, 202651-200236 contacts →

Partial evidence

“4DMT is a leading late-stage biotechnology company advancing durable and disease-targeted therapeutics with potential to transform treatment paradigms and provide unprecedented…”

Source: RevenueBase Database · checked Sep 21, 2026
16Strong evidenceFramingham, MA, United StatesHQ checked Sep 21, 202651-200214 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 21, 2026
17Indirect evidenceBurlington, NC, United StatesHQ checked Sep 21, 202610001+212 contacts →

Indirect evidence

“Clear and confident health care decisions begin with questions.”

Source: RevenueBase Database · checked Sep 21, 2026
18Indirect evidenceTinley Park, IL, United StatesHQ checked Sep 21, 2026201-500179 contacts →

Indirect evidence

“Hematogenix, a global cancer-focused life science company serving the pharmaceutical & biotechnology industry as well as community physicians.”

Source: RevenueBase Database · checked Sep 21, 2026
19Partial evidenceMarshfield, WI, United StatesHQ checked Sep 21, 2026201-500177 contacts →

Partial evidence

“At PreventionGenetics, we are passionate about human genetics and its power to improve lives.”

Source: RevenueBase Database · checked Sep 21, 2026
20Partial evidenceGreenwood, SC, United StatesHQ checked Sep 21, 202651-200177 contacts →

Partial evidence

“For 50 years, the Greenwood Genetic Center has provided clinical genetic services, diagnostic laboratory testing, educational programs and resources, and medical genetics research…”

Source: RevenueBase Database · checked Sep 21, 2026
21Indirect evidenceLos Angeles, CA, United StatesHQ checked Sep 21, 2026501-1,000169 contacts →

Indirect evidence

“Flow Health is a leading provider of diagnostic information services, offering a wide range of diagnostic testing services.”

Source: RevenueBase Database · checked Sep 21, 2026
22Partial evidenceSouth San Francisco, CA, United StatesHQ checked Sep 21, 2026201-500166 contacts →

Partial evidence

“Monogram Biosciences, a LabCorp company, is a leader in developing and commercializing innovative products to help guide and improve the treatment of infectious diseases, cancer…”

Source: RevenueBase Database · checked Sep 21, 2026
23Strong evidenceBoston, MA, United StatesHQ checked Sep 21, 202651-200160 contacts →

Strong evidence

“Solid Biosciences is a precision genetic medicine company focused on advancing a portfolio of gene therapy candidates targeting rare neuromuscular and cardiac diseases, including…”

Source: RevenueBase Database · checked Sep 21, 2026
24Strong evidenceIndianapolis, IN, United StatesHQ checked Sep 21, 202651-200160 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 21, 2026
25Partial evidenceSouth San Francisco, CA, United StatesHQ checked Sep 21, 202651-200140 contacts →

Partial evidence

“Maze Therapeutics is a clinical-stage biopharmaceutical company harnessing the power of human genetics to develop novel, small molecule precision medicines for patients living…”

Source: RevenueBase Database · checked Sep 21, 2026

Showing 25 of 408 rare disease genetics companies based in the United States

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Rare disease genetics companies based in the United States at a glance

As of Sep 21, 2026
50.3%Verified-email coverage
90.0Average contacts per company
11-50Median size (employees)
3.4%Largest-city concentration · San Diego
Sep 21, 2026Page data refreshed

Companies by employee count

1-10
130
11-50
140
51-200
87
201-500
27
501-1,000
11
1,001-5,000
9
5,001-10,000
2
10001+
2

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 408 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 genetics 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.
What qualifies
Companies headquartered in the United States whose own description of what they do matches “rare disease genetics 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 genetics 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 genetics companies, 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, 18,490 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.

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 genetics 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 genetics companies are there based in the United States?

RevenueBase identified 408 rare disease genetics companies 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?

Illumina, headquartered in San Diego, tops this list with the largest team on record.

Which city has the most rare disease genetics companies?

San Diego leads with 14 headquartered companies, followed by Houston (12) and New York (11).

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 18,490 verified decision-maker contacts tracked across these 408 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.