Profile: Sequenom Inc (SQNM.OQ)
28 Jul 2016
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. The Company operates through Sequenom Laboratories segment. The Company conducts its business as a molecular diagnostics clinical laboratory located in San Diego, California and Raleigh-Durham, North Carolina. Its testing focus is on prenatal health that includes molecular-based laboratory developed tests (LDTs). The Company's diagnostic services are provided through its subsidiary, Sequenom Center for Molecular Medicine LLC (SCMM), doing business as Sequenom Laboratories. Sequenom Laboratories develops and validates its tests to be used 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 test, SensiGene RhD test, VisibiliT test and Test Send-out Agreements.
MaterniT21 PLUS Test
Sequenom Laboratories develops, validates 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 offered for use in pregnant women at 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.
VisibiliT LDT 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. This is a risk score test for the detection of increased representation of chromosomes 21 and 18.
HerediT CF Test and HerediT UNIVERSAL Test
Sequenom Laboratories develops, validates and performs HerediT CF LDT carrier screen test to help identify individuals with a 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 the laboratory for testing. The HerediT UNIVERSAL test is performed by Reprogenetics, a laboratory available through contract with Sequenom Laboratories. There are three testing options: the Complete Panel tests for mutations in over 250 genetic disorders; the Standard Panel tests for all disorders guided by the American College of Obstetrics and Gynecology (ACOG) and the American College of Medical Genetics (ACMG) guidelines, and the Jewish Ancestry Panel tests for over 65 conditions in the Ashkenazi and Sephardic populations.
SensiGene RhD Test
Sequenom Laboratories develops, validates 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.
Test Send-out Agreements
Test Send-out Agreements provides a range 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 marketed under the HerediT brand. In the eye care field, Sequenom Laboratories develops, validates 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.
The Company competes with Roche, Inc., Beijing Genomics Institute, Celula Inc., Laboratory Corporation of America Holdings, Inc., Natera, Inc., Perkin Elmer, Inc., Quest Laboratories, Illumina, Inc. and Counsyl.
3595 John Hopkins Ct
SAN DIEGO CA 92121-1121