Blueprint Genetics
Blueprint Genetics is a Finland-based clinical genetic testing laboratory founded in 2012 that provides NGS-based diagnostic panels, whole exome sequencing, and reproductive screening tests to healthcare providers in over 70 countries, operating a CAP-accredited, CLIA-certified lab with proprietary bioinformatics.
- Company typePrivate
- Founded2012
- HeadquartersHelsinki, Finland
- Headcount11–50
- GTM typeB2B
- OfferingServices
What Blueprint Genetics does
Blueprint Genetics is a clinical genetic testing laboratory headquartered in Espoo (Helsinki), Finland, founded in 2012. The company provides next-generation sequencing (NGS)-based diagnostic genetic testing services to healthcare providers — including clinicians, genetic counselors, and hospitals — across more than 70 countries, with all sample processing performed in its CAP-accredited, CLIA-certified laboratory in Helsinki. Its core portfolio includes over 220 diagnostic NGS panels spanning 14 medical specialties (cardiology, neurology, hereditary cancer, metabolic disorders, ophthalmology, etc.), Whole Exome Sequencing (WES) with a proprietary genotype-first analysis approach, single gene tests, variant-specific testing, and reproductive screening tests including FMR1 repeat expansion analysis.
The company's technical stack is built on Illumina NovaSeq instrumentation with an in-house designed WES platform and a proprietary bioinformatics pipeline. Differentiated features include high-coverage WES (174X median depth, ≥99.4% of bases covered at ≥20X), industry-leading analytical sensitivity (99.7% SNV sensitivity, >99.99% specificity), comprehensive mitochondrial genome analysis, and coverage of approximately 1,500 non-coding disease-causing variants in every WES. The company has expanded its diagnostic customization gene list by over 14,000 genes to support bespoke panel design.
Revenue is generated predominantly through per-test unit pricing on a pay-as-you-go basis, with tiered pricing visible (e.g., $1,750 per test for select panels). Orders are placed via the HIPAA-compliant Nucleus online portal or paper requisition forms, with specimen collection kits shipped globally and samples returned to the Helsinki lab. The company supplements its core diagnostic offering with ancillary services — Variant Reevaluation, VUS Clarification, Clinical Genetics Support, and a premium Express Service with a two-week turnaround time. Across 2014–2020, Blueprint Genetics raised approximately $26 million in disclosed venture funding from investors including Inventure, Creathor Ventures, MTIP AG, Pontos Group, Tekes Venture Capital, and Stanford University.
Blueprint Genetics firmographics
Firmographics- Name
- Blueprint Genetics
- Legal name
- Blueprint Genetics Oy
- Website
- https://blueprintgenetics.com
- Company type
- Private
- Founded year
- 2012
- Operating status
- Operating
- Headcount range
- 11–50 employees
- Short description
- Blueprint Genetics is a Finland-based clinical genetic testing laboratory founded in 2012 that provides NGS-based diagnostic panels, whole exome sequencing, and reproductive screening tests to healthcare providers in over 70 countries, operating a CAP-accredited, CLIA-certified lab with proprietary bioinformatics.
- Ownership category
- akta.pro rank
Blueprint Genetics industry classification
Industry- Product category
- Clinical Genetic Diagnostics
- NAICS
- Medical Laboratories (621511)
- SIC
- Services-Medical Laboratories (8071)
- akta.pro primary industry
- Genetic & Prenatal Testing Laboratories (HLAFAMAH)
- akta.pro secondary industries
- Genetic & Genomic Testing (germline, somatic, carrier, pharmacogenomics) (HLAAALAD), Prenatal, Newborn & Reproductive Diagnostics (NIPT, IVF/PGT, newborn screening) (HLAAALAJ), Molecular & Genetic Testing (PCR/NGS/qPCR) (HLAGADAF)
Keywords
Where Blueprint Genetics is headquartered
LocationHeadquarters
- HQ city
- Helsinki
- HQ country
- Finland
- HQ region
- Europe
Offices1 record
Markets served
Blueprint Genetics business model
Business model- GTM type
- B2B
- Offering type
- Services
- Cost components
- Personnel, Technology or R&D, Operations, Infrastructure, Marketing or Sales
Revenue model
- Genetic Diagnostic Testing Services: Blueprint Genetics generates revenue through laboratory diagnostic genetic testing services including panels (over 220 panels across 14 medical specialties), Whole Exome Sequencing (WES), Single Gene Tests, and Variant Specific Testing. Services are sold to healthcare providers who order tests for their patients.
Pricing tiers
| Model | Billing | Price |
|---|---|---|
| Unit Pricing | Pay-as-you-go | Neonatal Respiratory Distress - Surfactant Dysfunction Panel (PU0501) |
| Unit Pricing | Pay-as-you-go | Express Service |
Go-to-market motion1 record
Distribution channels3 records
Marketing channels6 records
Blueprint Genetics product offering
Product offeringCore offering
Blueprint Genetics provides clinical-grade genetic diagnostic testing services to healthcare providers, offering over 220 NGS panels across 14 medical specialties, Whole Exome Sequencing (WES), single gene tests, variant-specific testing, and reproductive screening tests. Tests are ordered through the Nucleus portal or paper requisitions, with samples processed at its CAP-accredited, CLIA-certified laboratory in Espoo, Finland.
Product overview
Blueprint Genetics offers a comprehensive genetic testing portfolio spanning diagnostic panels across 14 medical specialties, Whole Exome Sequencing (WES), single gene tests, variant-specific testing, and screening tests. The core offerings include over 220 customizable NGS panels and WES with family analysis options. Supporting services include Variant Reevaluation, VUS Clarification, Clinical Genetics Support, and an Express Service for urgent cases. All services are accessible through the Nucleus online ordering platform.
Differentiator
Problem solved
Functional benefit
Products and services
- Diagnostic Panels Next-generation sequencing (NGS) based multi-gene panels covering 14 medical specialties including Cardiology, Neurology, Pediatrics, Oncology, and more. Over 220 panels available with customizable options for healthcare providers diagnosing inherited conditions.
- Whole Exome Sequencing (WES) Comprehensive analysis of protein-coding regions of approximately 20,000 genes using a proprietary genotype-first approach. Includes Whole Exome Family Plus (proband with parents) and Whole Exome Plus (proband only) options with deletion/duplication analysis for healthcare providers.
- Single Gene Tests Targeted testing for specific single genes when clinical presentation strongly indicates a particular condition. Offered to healthcare providers as a focused alternative to broad panel testing.
- Variant Specific Testing Includes Familial Variant Testing (FVT) and Targeted Variant Testing (TVT) for confirming variants identified in family members or previously identified in the proband. Used by healthcare providers for cascade family testing.
- Screening Tests Genetic screening products including Ashkenazi Jewish Reproductive Screen, Comprehensive Reproductive Screen, and Core Reproductive Screen - all with FMR1 repeat expansion options for carrier and reproductive screening.
- Mitochondrial Genome Test Complete analysis of the entire mitochondrial genome including sequencing and copy number variant analysis for all 37 mtDNA genes. Available standalone or included in over 30 panels at no additional cost.
- Nucleus HIPAA-compliant online ordering portal for healthcare providers to order tests, access patient test results, track order status, and manage genetic testing workflows.
- Express Service Expedited testing service with a 2-week turnaround time for urgent diagnostic timelines. Available for all test types including Panels, WES, Screening Tests, and Variant-Specific Testing. Additional fee applies.
Quantifiable outcome
- WES diagnostic yield of 20% to 60% in cases with severe, early-onset disorders
- +3 more outcomes
Companies that use Blueprint Genetics
Customer profileNamed customers1 record
Segments1 record
Ideal customer profiles1 record
Blueprint Genetics technology and API
TechnologyTechnology focussed Yes
API detail
- Has API
- No
- API docs
- API detail
Core technology
AI maturity
App detail
Feature4 records
Blueprint Genetics partnerships and signals
Strategic signalScale indicators2 records
Recent moves6 records
Expansion highlights6 records
Blueprint Genetics competitors and assessment
Company assessmentDirect peers
- GeneDx: Clinical genetic testing laboratory offering exome, genome and panels across rare disease, pediatric and reproductive indications; direct competitor in clinical NGS diagnostics to healthcare providers.
- Invitae: Clinical genetic testing lab providing broad hereditary disease panels, exome sequencing and reproductive health testing; closest direct overlap with Blueprint's panel and WES portfolio.
- Ambry Genetics: Clinical genetic diagnostics lab with deep specialty coverage (cardiology, neurology, oncology, reproductive) and large panel/WES menu; competes head-to-head with Blueprint on rare-disease panels and WES.
- Centogene: Germany-based clinical genomics lab focused on rare disease diagnostics, WES/WGS and reproductive carrier screening; highly comparable European-headquartered peer with overlapping test menu and customer base.
- PreventionGenetics: US clinical genetic testing laboratory offering large panel catalog and whole exome sequencing for rare inherited disorders; comparable business model selling NGS-based diagnostics to clinicians.
- Fulgent Genetics: Clinical NGS lab providing comprehensive genetic testing panels across many specialties with technology-driven custom panel design; overlapping platform-style offering to healthcare providers.
Broad incumbents
- PerkinElmer Genomics: Life-sciences tools and diagnostics arm of PerkinElmer offering clinical genomic testing services across rare disease, newborn screening and reproductive health; broader portfolio incumbent with overlapping test categories.
- Myriad Genetics: Established clinical genetics company with broad hereditary cancer, reproductive and pharmacogenomic testing; relevant incumbent competitor for Blueprint's hereditary cancer and reproductive panels.
- EGL Genetics (Eurofins): Clinical molecular and cytogenetic diagnostics lab within the Eurofins network; broad menu of rare disease panels and WES overlapping Blueprint's clinical offerings across multiple specialties.
Emerging players
- Natera: Clinical genomics company with strong reproductive health (carrier/NIPT) and oncology focus; partial overlap in reproductive/carrier screening and hereditary cancer panels where Blueprint also competes.
Market position
Strengths5 records
Weaknesses5 records
Competitive moat5 records
Key risks6 records
Key highlights7 records
Customer concentration
Blueprint Genetics social profiles
Digital presenceBlueprint Genetics compliance and trust
Trust signalCompliance2 records
Blueprint Genetics financial estimates
Financial estimateRevenue estimate
Valuation estimate
Blueprint Genetics leadership team
Management profileNumber of profiles
Profiles6 records
Blueprint Genetics funding detail
Funding detailFunding overview
Funding rounds6 records
Investors9 records
Funding detail is available on the Subscription and Enterprise plan.Contact sales →
Blueprint Genetics M&A and investment
M&A and investmentM&A
Investments
M&A and investment is available on the Subscription and Enterprise plan.Contact sales →
Frequently asked questions about Blueprint Genetics
What does Blueprint Genetics do?
Blueprint Genetics provides clinical-grade genetic diagnostic testing services to healthcare providers, offering over 220 NGS panels across 14 medical specialties, Whole Exome Sequencing (WES), single gene tests, variant-specific testing, and reproductive screening tests. Tests are ordered through the Nucleus portal or paper requisitions, with samples processed at its CAP-accredited, CLIA-certified laboratory in Espoo, Finland.
Is Blueprint Genetics a public or private company?
Blueprint Genetics is a private company. It is classified as venture growth investor backed and is currently operating.
When was Blueprint Genetics founded?
Blueprint Genetics was founded in 2012. It employs 11 to 50 people.
Where is Blueprint Genetics based?
Blueprint Genetics is headquartered in Helsinki, Finland, in the Europe region.
How does Blueprint Genetics make money?
One revenue line is on record: genetic Diagnostic Testing Services.
Who are Blueprint Genetics's main competitors?
Direct peers on record are GeneDx, Invitae, Ambry Genetics, Centogene, PreventionGenetics and Fulgent Genetics. Broad incumbents are PerkinElmer Genomics, Myriad Genetics and EGL Genetics (Eurofins). Natera is listed as an emerging player.
Does Blueprint Genetics have an API?
No public API is recorded for Blueprint Genetics.
What industry is Blueprint Genetics in?
Blueprint Genetics's product category is Clinical Genetic Diagnostics. Its primary akta.pro industry code is HLAFAMAH, Genetic & Prenatal Testing Laboratories, with a secondary code of HLAAALAD, Genetic & Genomic Testing (germline, somatic, carrier, pharmacogenomics). Its NAICS code is 621511 and its SIC code is 8071.