Sequenom

What Sequenom does

Sequenom was a San Diego-based molecular diagnostics company founded in 1994 that developed and commercialized non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA) analysis from maternal blood samples. Its core technology detected chromosomal abnormalities — primarily trisomy 21 (Down syndrome), trisomy 18, and trisomy 13 — from a simple maternal blood draw as early as 9-10 weeks gestation, eliminating the miscarriage risk associated with invasive diagnostic procedures such as amniocentesis and chorionic villus sampling. The company was recognized in third-party market research as a pioneer and key player in the NIPT market, competing with Illumina, Natera, Roche, Guardant Health, Myriad Genetics, and Verinata Health.

The company's revenue model was clinical laboratory services: Sequenom operated CLIA-certified laboratories and generated revenue from billable NIPT tests ordered by obstetricians, maternal-fetal medicine specialists, and genetic counselors for their patients. Go-to-market was sales-led, targeting healthcare providers and health systems through clinical sales channels and integration into routine prenatal care workflows. Marketing relied on industry conferences, medical publications, and inclusion in market research reports identifying it as a leading NIPT player.

Sequenom's corporate trajectory ended its independent operations through successive acquisitions: the company was acquired by Invitae in 2018, and Invitae's reproductive health assets (including Sequenom) were subsequently acquired by Natera in January 2024 for $42.5 million. Sequenom's former website (sequenom.com) now redirects to Labcorp Women's Health, suggesting further brand or asset migration. Sequenom raised over $185 million in disclosed funding rounds, with its largest raise being a $130 million round in September 2012 during the peak of NIPT commercial expansion.

Name

Sequenom

Website

https://womenshealth.labcorp.com

Company type

Private

Founded year

1994

Headcount range

501–1,000 employees

Short description

Sequenom was a San Diego-based molecular diagnostics company that developed non-invasive prenatal testing (NIPT) using cell-free DNA analysis from maternal blood to screen for chromosomal abnormalities. The company was acquired by Invitae in 2018 and then by Natera in 2024.

Ownership category

akta.pro rank

Product category

Prenatal Genetic Diagnostics / Clinical Laboratory Services

NAICS

Medical Laboratories (621511), Medical and Diagnostic Laboratories (62151), Medical and Diagnostic Laboratories (6215)

SIC

Services-Medical Laboratories (8071), In Vitro & In Vivo Diagnostic Substances (2835)

akta.pro primary industry

Prenatal, Newborn & Reproductive Diagnostics (NIPT, IVF/PGT, newborn screening) (HLAAALAJ)

akta.pro secondary industries

Genetic, Cytogenetic & Prenatal Screening IVD (HLAHAAAI), Genetic & Prenatal Testing Laboratories (HLAFAMAH)

Keywords

• Non-invasive prenatal testing
• Cell-free DNA analysis
• Prenatal genetic screening
• Trisomy detection
• Maternal blood testing

Headquarters

HQ city

San Diego

HQ country

United States

HQ region

North America

Markets served

GTM type

B2B

Offering type

Services

Cost components

Personnel, Technology or R&D, Operations, Infrastructure, Marketing or Sales

Revenue model

1. NIPT Laboratory Services: Sequenom generates revenue through the provision of non-invasive prenatal testing laboratory services to healthcare providers and patients. The company operates within the broader non-invasive prenatal testing market, which is projected to reach $12.37 billion by 2030, growing at a CAGR of 14.4%. Revenue is derived from billable clinical laboratory tests performed on maternal blood samples.

Go-to-market motion1 record

Distribution channels1 record

Marketing channels1 record

Core offering

Sequenom operates as a clinical laboratory services provider specializing in non-invasive prenatal testing (NIPT). The company performs cell-free DNA (cfDNA) analysis on maternal blood samples to screen for chromosomal abnormalities including trisomy 21 (Down syndrome), trisomy 18, and trisomy 13, offering a safer alternative to invasive diagnostic procedures such as amniocentesis and CVS.

Product overview

Sequenom is identified as a key market player in the non-invasive prenatal testing (NIPT) and noninvasive prenatal gene testing technology market. Based on market research reports, Sequenom operates in the reproductive health and genetic testing sector, competing with companies such as Illumina, Natera, Roche, Guardant Health, Aria Diagnostics, Fulgent Genetics, Myriad Genetics, and Verinata Health. However, detailed product portfolio information for Sequenom is not available in the provided source data.

Differentiator

Problem solved

Functional benefit

Products and services

• Non-invasive Prenatal Testing (NIPT) Laboratory Services

Quantifiable outcome

• Non-invasive prenatal testing market projected to reach $12.37 billion by 2030 at 14.4% CAGR

Segments1 record

Ideal customer profiles1 record

Technology focussed Yes

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Feature1 record

Scale indicators1 record

Recent moves5 records

Expansion highlights2 records

Broad incumbents

• Quest Diagnostics: Quest Diagnostics is a major reference laboratory offering QNatal Advanced NIPT and a broad women's health test menu. As a comparable clinical laboratory services provider serving obstetricians, it competes with Sequenom in the same provider-order workflow.
• Myriad Genetics: Myriad Genetics is a broader women's health and genetic testing company offering prenatal screening, hereditary cancer testing, and other molecular diagnostics. It competes with Sequenom in reproductive genetics while also operating in adjacent genetic testing categories.
• Labcorp: Labcorp is a major reference laboratory currently hosting the Sequenom brand under its Women's Health division (womenshealth.labcorp.com). It competes broadly in clinical laboratory services and has the infrastructure to deliver NIPT at scale.
• Invitae: Invitae acquired Sequenom in 2018 and operated it within its reproductive health business before divesting the assets to Natera in 2024. It remains a comparable genetic testing laboratory competing in reproductive and hereditary cancer testing.

Direct peers

• Illumina: Illumina acquired Verinata Health and offers the Verifi NIPT test. As a leading sequencing platform provider and NIPT competitor, Illumina competes with Sequenom at both the laboratory services and upstream technology levels.
• Natera: Natera is a direct competitor in NIPT (Panorama) and acquired Sequenom's reproductive health assets in January 2024 for $42.5M. It offers a comparable cfDNA-based NIPT service to obstetricians and maternal-fetal medicine specialists, making it the closest direct peer.
• Roche: Roche offers the Harmony Prenatal Test through its Ariosa Diagnostics subsidiary. As a major diversified diagnostics player, Roche competes with Sequenom across global NIPT markets and has substantially larger commercial and reimbursement infrastructure.

Emerging players

• Fulgent Genetics: Fulgent Genetics is a genetic testing laboratory offering reproductive and hereditary cancer tests. While smaller than the major NIPT players, it provides comparable cfDNA-based NIPT services and is identified as a market competitor alongside Sequenom.
• BillionToOne: BillionToOne offers the UNITY Screen, a non-invasive prenatal screen that combines cfDNA analysis with cell-free fetal fraction quantification. As an emerging specialty NIPT competitor, it is increasingly cited alongside traditional players like Sequenom in the NIPT market.

Others

• Guardant Health: Guardant Health is identified as a market competitor alongside Sequenom in industry market research. While primarily focused on oncology liquid biopsy, its cfDNA expertise creates technology overlap with NIPT and positions it as an adjacent genomic diagnostics player.

Market position

Strengths4 records

Weaknesses4 records

Competitive moat4 records

Key risks5 records

Key highlights6 records

Customer concentration

• Xx.com/sequenomlabs
• Facebookfacebook.com/sequenomlabs
• LinkedInlinkedin.com/company/sequenom

Revenue estimate

Valuation estimate

Number of profiles

Profiles4 records

Funding overview

Funding rounds4 records

Investors1 record

Funding detail is available on the Subscription and Enterprise plan.Contact sales →

M&A1 record

Investments

M&A and investment is available on the Subscription and Enterprise plan.Contact sales →

Frequently asked questions about Sequenom