Clinical Studies

Prenatal Diagnostics
Fetal Nucleic Acid Technology
Clinical Studies
Retinal Care Diagnostic

Sequenom is committed to to improving healthcare through revolutionary genetic analysis solutions. A key step in this process is clinical studies.

If you are a patient looking for information about clinical studies, please begin by selecting an indication below. If you are interested in participating in a particular study follow the links below to find out if there is a study center in your area.

If you are interested in more details about the tests we are developing please visit the For Patients section of our CLIA Laboratory website.

If you are a healthcare professional, we welcome you to join our community. Please visit the Contact Us page to request more information.

Sequenom posts information about its clinical studies on a government mandated webpage at www.clinicaltrials.gov, which is a National Institutes of Health registry of ongoing studies that are open for enrollment.

Studies by Indication

Fetal RHD Genotyping

Study Number/Name Title Purpose Status
SQNM-RHD-105 (IRIS)

Evaluation of a Noninvasive Fetal RHD Genotyping Test

R&D Enrolling
SQNM-RHD-301 Evaluation of the Performance of a Noninvasive Test for Fetal RHD Genotype on the Sequenom MassARRAY System Validation Enrolling


Fetal Sex Determination

Study Number/Name Title Purpose Status
SQNM-FS-101 (FIRST) Evaluation of a Noninvasive Fetal Sex Determination Method Between 6 and 16 Weeks of Gestation R&D No longer recruiting patients
SQNM-FS-102 (PREVIEW) Evaluation of a Fetal Sex Determination Test at 36-56 Days Gestation on Assisted Reproductive Technology (ART) Methods Achieved Pregnancies R&D Enrolling


Trisomy 21

Study Number/Name Title Purpose Status
SQNM-T21-202 (CHARMM) Noninvasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker (Research & Development Study) R&D Enrolling
SQNM-T21-301 Noninvasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Verification Enrolling
SQNM-T21-302 Fetal Nucleic Acid-Based Noninvasive Prenatal Validation Study for the Detection of Down Syndrome in Early Pregnancy (W&I T21 Validation Study) Validation Enrolling
SQNM-T21-305 (CHARMM-AP) Noninvasive Screening for Fetal Aneuploidy: Assay Development & Optimization in Affected Pregnancies R&D Enrolling