Blueprint Genetics
AcquiredHelsinki, FI Β· Founded 2012 Β· 220 employees on LinkedIn Β· 2 known investors
Blueprint Genetics is a genetic testing company that combines laboratory science, genetics, and bioinformatics to analyze and interpret genetic data. It operates as a global company with in-house software, cloud, and bioinformatics teams supporting its testing services.
Also known as BPG
Investors Β· 2
Company profile
researched Aug 2026Blueprint Genetics is a genetic testing company focused on inherited and rare diseases, headquartered in Helsinki, Finland, with a laboratory address in Espoo (Keilaranta 16 A-B). It delivers clinical genetic testing to clinicians across 14 medical specialties, including neurology, cardiology, metabolic disorders, malformations, hereditary cancer, mitochondrial disorders, pulmonology, gastroenterology, dermatology, ear/nose/throat, ophthalmology, nephrology, hematology, immunology, endocrinology and pediatrics, plus proactive and reproductive screening tests.
The test menu spans curated and custom (Flex) panels, whole exome sequencing, single gene tests, familial/variant-specific testing and screening tests, with an expedited "Express Service" for urgent diagnostic timelines. Workflow is clinician-initiated: a physician collects a specimen (for example a blood sample) using a requested collection kit, the company analyses the DNA and returns interpreted results through its online portal, Nucleus, which is also used for ordering and order tracking. At acquisition the offering was described as 3,900 targeted single gene tests and over 200 panel tests; the NIH Genetic Testing Registry lists the lab (GTR ID 500188) with 228 tests covering 436 conditions/phenotypes, under lab director Juha Koskenvuo, PhD, MD.
Quality credentials cited by the company include CLIA certification, College of American Pathologists accreditation of all laboratory functions, and ISO 15189 compliance. The company also publishes clinical education material (webinars, insights, posters, publications, white papers) and has stated it is adapting to the EU IVDR regulation.
Founding story
Blueprint Genetics was founded in 2012 by biologist Samuel Myllykangas and physicians Juha Koskenvuo and Tero-Pekka Alastalo. Between 2009 and 2011 Myllykangas developed a targeted sequencing method ('Oligonucleotide-Selective Sequencing') during postdoctoral studies at Stanford University; Koskenvuo and Alastalo, working in a neighbouring laboratory, recognised the clinical potential of the technology for hereditary disease, and the three founded the company after returning to Finland.
Business model
Blueprint Genetics sells laboratory-based genetic diagnostic testing as a service to healthcare professionals and institutions. Orders are placed by clinicians through the Nucleus online portal or paper requisition; specimen collection kits are shipped to the provider or patient and analysed results are returned to the ordering clinician. The company also runs sponsored testing programs with industry partners, such as a program with BioMarin for individuals with skeletal dysplasia in Europe and the Middle East.
Revenue derives from fee-per-test clinical genetic testing (panels, whole exome sequencing, single gene and variant-specific tests) ordered by clinicians and billed to payers or institutions; the company notes CPT coding is the responsibility of the billing party. Sponsored testing programs funded by partners such as BioMarin also form part of the offering.
Traction
The company reports more than 200 employees, more than 4,000 clinicians in 70 countries, and a portfolio described at acquisition as 3,900 single gene tests and over 200 panels across 14 specialties. In 2016 it worked with more than 250 hospitals in 25 countries and offered more than 400 genetic tests. Its NIH GTR listing records 228 tests across 436 conditions, and it makes submissions to ClinVar.
Latest developments
In December 2025 Juhana Rauramo, a 20-year veteran of the Finnish diagnostics industry, joined as vice president and general manager of Quest Diagnostics' Helsinki-based Blueprint Genetics business, reporting to Mark Gardner, SVP Oncology & Genomics, and also serving as managing director, leading EMEA and rest-of-world strategy. Other recent developments include the addition of diagnostic tests with FMR1 repeat expansion analysis, a major panel update to enhance clinical utility, adoption of the EU IVDR regulation, a collaboration with BioMarin on a sponsored skeletal dysplasia testing program in Europe and the Middle East, and a 2025 webinar program on whole exome sequencing, whole genome sequencing and mitochondrial DNA analysis.
βΈFull profile β market position, technology, go-to-market, geography, history
Market position
Blueprint Genetics positions itself as a quality-focused specialty provider of inherited disease testing, differentiated on diagnostic yield, turnaround time and cost efficiency; press coverage in 2016 named it one of the top 20 most promising Finnish startups, and it was characterised at acquisition as a leading specialty genetic testing company. Since 2020 it has operated as part of Quest Diagnostics, described as the world's leading provider of diagnostic information services.
Reported points of differentiation include a high diagnostic hit rate, fast turnaround (roughly three weeks versus several months cited for some competitors), cost efficiency, clinician-friendly reporting and interpretation, proprietary guideline-supported variant interpretation methods backed by consultative service, and a breadth of accreditations (CLIA, CAP, ISO 15189).
Technology
The company combines next-generation sequencing, a laboratory process built around targeted sequencing, and bioinformatic and AI-assisted data analysis with proprietary, guideline-supported methods for gene variant interpretation. Its origin technology was an 'Oligonucleotide-Selective Sequencing' targeted sequencing method developed by co-founder Samuel Myllykangas during postdoctoral work at Stanford University. Current capabilities include whole exome sequencing, mitochondrial genome (mtDNA) analysis alongside panel-based NGS to raise diagnostic yield, whole genome sequencing for research use, and repeat-expansion testing such as FMR1. Results and ordering are delivered through the Nucleus portal, described as HIPAA-compliant.
Go-to-market
Direct sales and service to healthcare professionals, supported by an online ordering portal (Nucleus), specimen kit logistics, a clinical education program of webinars, insights, videos, posters and publications, newsletter subscriptions, conference attendance (for example HGSA's Annual Scientific Meeting in 2026), and partner-sponsored testing programs.
Clinicians, genetic counsellors, hospitals and other healthcare providers ordering diagnostic testing for patients and families with suspected inherited or rare disease; the company reported working with more than 4,000 clinicians in 70 countries (earlier reported as more than 250 hospitals in 25 countries in 2016) and also serves researchers.
Geography
Headquartered in Helsinki, Finland, with a laboratory address in Espoo; earlier coverage described operations based in Helsinki, San Francisco and Dubai, with a U.S. office since 2014 and North American phone/fax contact numbers. The customer base spans more than 70 countries. Under Quest Diagnostics, a Helsinki-based general manager leads business strategy for EMEA and rest-of-world markets.
History
Founded in Finland in 2012 following its founders' research at Stanford University, the company opened a U.S. office in 2014 and by 2016-2017 operated from Helsinki, San Francisco and Dubai with a portfolio of more than 400 tests, more than 250 hospital customers in 25 countries, and Tommi Lehtonen as CEO. It was backed by venture investors including Creathor Venture, MTIP, Inventure, Pontos Group and Stanford University, which together financed the company with more than $40 million. In January 2020 Quest Diagnostics acquired Blueprint Genetics in an all-cash equity transaction with undisclosed financial terms. The company has since continued expanding its menu, adopting the EU IVDR regulation and, in December 2025, appointing Juhana Rauramo as vice president and general manager for the Helsinki-based business.
Compiled by commissioned research from 8 cited public sources β announcements, filings, and press listed under research sources below.
Key figures
latest reportedCompany-reported or press-reported figures, each dated to when it was claimed β not independently audited.
Timeline Β· 8
launches, deals, and filingsJuhana Rauramo joined Quest Diagnostics as vice president and general manager of the Helsinki-based Blueprint Genetics business, reporting to Mark Gardner, SVP Oncology & Genomics, and also serving as managing director, leading EMEA and rest-of-world business strategy.
Blueprint Genetics and BioMarin collaborated to launch a sponsored testing program for individuals with skeletal dysplasia in Europe and the Middle East.
Diagnostic tests including FMR1 repeat expansion analysis were added to the Blueprint Genetics offering.
The company announced a major panel update intended to enhance the clinical utility of its testing offering.
Blueprint Genetics announced it embraces the new EU IVDR regulation.
Blueprint Genetics announced it had been acquired by Quest Diagnostics in an all-cash equity transaction; financial terms were undisclosed.
In 2016 Blueprint Genetics was chosen as one of the top 20 most promising Finnish startups.
The company established an office in the United States in 2014 as part of a focus on the U.S. market; it later operated from Helsinki, San Francisco and Dubai.
Dated company events from announcements, filings, and press; legal rows summarize public dockets and regulator releases.
In the news
βΈResearch sources Β· 8
primary sources listed
- Blueprint Geneticsblueprintgenetics.com Β· web
8 public sources were cited for this profile; the first-party ones are listed here.
Frequently asked questions
- What does Blueprint Genetics do?
- Finnish genetic testing company providing panel, exome and single-gene diagnostics for inherited diseases; acquired by Quest Diagnostics.
- Who are Blueprint Genetics's investors?
- Blueprint Genetics's investors include Bootstrap Europe, Creathor Ventures.
- Where is Blueprint Genetics headquartered?
- Blueprint Genetics is headquartered in Helsinki, FI.