Profile: Sequenom Inc (SQNM.OQ)
Sequenom, Inc. (Sequenom), incorporated on February 14, 1994, is a life sciences company. The Company serves patients and physicians by providing early patient management information. Its testing focus is principally in prenatal health that includes molecular-based laboratory developed tests (LDTs). The Company's diagnostic services are provided through its wholly owned subsidiary, Sequenom Laboratories. Sequenom Laboratories develops and validates its tests for use in, and by Sequenom Laboratories, as a testing service to physicians. Sequenom Laboratories is primarily focused on expanding the commercial use of, and reimbursement for its prenatal LDTs, and developing and offering a menu of tests for prenatal continuum of care. The Sequenom Laboratories' test offerings in the prenatal market include MaterniT21 PLUS LDT, HerediT CF LDT, SensiGene RhD LDT, VisibiliT LDT and Test Send-out Agreements.
Sequenom Laboratories developed, validated and performs MaterniT21 PLUS LDT noninvasive prenatal testing (NIPT) to detect fetal chromosomal abnormalities by determining the relative amount of chromosomal material present in circulating cell-free deoxyribonucleic acid (DNA) in a maternal blood sample. The test is intended and offered for use in pregnant women at increased risk for fetal chromosomal abnormalities, including abnormalities associated with trisomies 21 (associated with Down syndrome), 18 (associated with Edwards syndrome), and 13 (associated with Pauau syndrome). It also includes the detection of the presence of the Y chromosome, and if observed, chromosomal abnormalities associated with chromosomes 16, 22, sex chromosomes X and Y, and select chromosomal microdeletions, including 22q (associated with DiGeorge syndrome), 15q (associated with Angelman/ Prader-Willi syndromes), 11q (associated with Jacobsen syndrome), 8q (associated with Langer-Giedion syndrome), 5p (associated with Cri-d-chat syndrome), 4p (associated with Wolf-Hirschhorn syndrome) and 1p36 deletion syndrome. Patient samples are collected via blood draw and submitted to Sequenom Laboratories for testing and test results are reported back to the ordering clinician.
Sequenom Laboratories developed, validated and performs HerediT CF LDT carrier screen test to help identify individuals who may have an increased risk of having certain cystic fibrosis (CF), genetic mutations. This test includes screening for a set of phenotypically relevant genetic mutations selected from the Johns Hopkins CFTR2 database. Patient samples are collected via buccal (cheek) swab or blood draw and submitted to Sequenom Laboratories for testing and test results are reported back to the ordering clinician. Sequenom Laboratories developed, validated and performs SensiGene RhD LDT NIPT to determine the presence or absence of fetal Rhesus D factor (RhD) by direct detection of the fetal RhD genotype in RhD negative mothers from a maternal blood sample. RhD incompatibility in pregnancy occurs when the mother is negative for the RhD factor and the fetus is positive. Untreated, this protein incompatibility may cause the mother to produce antibodies that destroy and eliminate the fetus's red blood cells and could potentially lead to RhD disease in the fetus. Patient samples are collected via blood draw and submitted to Sequenom Laboratories for testing and test results are reported back to the ordering clinician.
VisibiliT LDT, which is a NIPT to detect fetal chromosomal abnormalities by determining the relative amount of chromosomal material present in circulating cell-free DNA in a maternal blood sample. Patient samples are collected via blood draw and submitted to Sequenom Laboratories for testing and test results are reported back to the ordering clinician. This is a risk score test for the detection of increased representation of chromosomes 21 and 18 with a greater accuracy than standard serum screening. Test Send-out Agreements, which provides a spectrum of testing services to physicians. Through these test send-out agreements, Sequenom Laboratories offers a microarray test, branded under the NextView brand name.
NextView is a clinical laboratory that develops and validates the test. The test uses fetal samples obtained by amniocentesis or chorionic villus sampling and can be ordered by a physician independently from its MaterniT21 PLUS test or ordered as a confirmatory test in the event of a positive MaterniT21 PLUS test result. Sequenom Laboratories also has test send-out agreements to provide additional carrier screening tests for Ashkenazi Jewish disorders, spinal muscular atrophy and fragile X syndrome, which are offered along with its HerediT CF carrier screening test and are also marketed under the HerediT brand. In the eye care field, Sequenom Laboratories developed, validated and performs the RetnaGene AMD test to predict the risk of a patient with dry or early-stage age-related macular degeneration (AMD), progressing to wet or advanced choroidal neovascular disease within two, five and 10 years. Patient samples are collected by eye care professionals via buccal (cheek) swab and submitted to Sequenom Laboratories for testing and test results are reported back to the ordering clinician.
The Company competes with Ariosa Diagnostics, Beijing Genomics Institute, Celula Inc., Laboratory Corporation of America Holdings, Inc., Natera, Perkin Elmer, Inc., Quest Laboratories and Verinata.
3595 John Hopkins Ct
SAN DIEGO CA 92121-1121