About Sequenom

About Sequenom

Insights for a well-informed life

Who we are


Reliable information from a trusted source.

In health care, where test results shape personal futures, Sequenom Laboratories is the trusted source for genetic testing that guides reproductive health matters. We are dedicated to delivering the most advanced genetic testing solutions available to provide answers that assist parents and physicians in proactively addressing informed family planning.  

Credibility is in our DNA.
  • In genetic testing, one size does not fit all. We offer the broadest collection of carrier status, NIPT, and diagnostic test options—from assessing a baby’s whole genome to detecting specific conditions—so that parents and physicians can select the right test for each pregnancy.
  • As the pioneer of NIPT, we have analyzed over half a million patient samples and can present the largest evidence base of clinical publications highlighting the ability of our tests to guide informed decisions.
  • The Sequenom team of expert genetic counselors are available to explain test results in clear terms. 

We translate genetic code into relevant insights.

Through our comprehensive and advanced offering of accurate, reliable, and timely genetic tests, parents and physicians gain valuable insight into the genetic implications of reproductive health. 

We support women at every stage of family planning with the widest range of tests to meet the varying needs of individuals:

  • Carrier screening identifies potential risk for genetic conditions.
  • Non-invasive prenatal testing offers information on specific genetic abnormalities or a comprehensive look at the baby’s genome.
  • When needed, our highly accurate invasive diagnostic testing offers further confidence in making informed health decisions.

We lead with innovation and service.

Our innovation is driven by a purpose—to help parents and physician find the right test, at the right time, to understand reproductive health throughout the family planning process. So, we focus on the advancement of highly accurate genetic tests that meet the information needs and concerns of expecting mothers.

We support parents and physicians with our dedicated, responsive, and accessible customer experience team. Because genetic testing is a deeply personal matter, our genetic counselors, medical directors, and customer service representatives provide parents with highly personal attention, while we assist physicians with understanding the latest advances in genomic testing.

A healthy family is a happy family.

A surprise genetic disorder with its resulting health challenges is not the way anyone wishes to grow a family, yet we know it can happen. Fortunately, Sequenom is advancing the technology to identify genetic abnormalities that might impact the health of a child. When clinically relevant, accurate, and advanced information is available at the right time, it creates the opportunity to plan for and even treat genetic conditions.


Pioneering purposeful innovation

As the pioneer of the noninvasive prenatal testing (NIPT) industry, Sequenom Laboratories was the first to offer a safe, reliable noninvasive prenatal testing method. We have been the market leader in this space ever since delivering a constant stream of purposeful innovation.

Major milestones in reproductive health

Launch of the HerediT® Cystic Fibrosis Carrier Screening laboratory-developed test, which offered superior detection rates and broader ethnic coverage when compared to the standard ACMG 23 recommended mutations panel.

The SensiGene® Fetal RHD Genotyping laboratory-developed test became the world’s first NIPT to detect circulating cell-free fetal DNA from maternal blood.

We announced the first NIPT for fetal chromosome 21 aneuploidy or trisomy 21 (Down syndrome) in the MaterniT® 21 laboratory-developed test.

The MaterniT® 21 PLUS laboratory-developed test added trisomy 18, trisomy 13, and fetal sex to the original analysis and also validated the test for use with multiple gestations.

MaterniT® 21 PLUS is enhanced with testing for sex chromosomes aneuploidies, several microdeletions, and trisomies 22 and 16.

Still more additions to the MaterniT® 21 PLUS test allowed for the detection of additional microdeletions.

We launched the MaterniT® GENOME laboratory-developed test, the first genome-wide NIPT.