Profile: Sequenom Inc (SQNM.OQ)
Sequenom, Inc. (Sequenom), incorporated in 1994, is a molecular diagnostic testing and genetics analysis company. The Company provides genomic and genetic analysis solutions for the molecular diagnostic and clinical research markets. Sequenom develops and commercializes molecular diagnostics testing services that target and serve molecular diagnostics markets, and also develop and commercialize research use genetic analysis products and services that target and serve discovery, and clinical research markets. The Company is engaged in researching, developing, and pursuing the commercialization of various noninvasive molecular diagnostic tests for prenatal genetic disorders, and diseases, women’s health-related disorders and diseases, ophthalmology, and other medical conditions such as oncology, infectious diseases, and autoimmunity. The Company conducts its business through two operating segments, Sequenom Laboratories and Sequenom Bioscience.
Sequenom Laboratories is a subsidiary of Sequenom, Inc. and operates a laboratory with three sites located in Grand Rapids, Michigan, Raleigh-Durham, North Carolina, and San Diego, California. Sequenom Laboratories focuses on expanding the commercial use of, and reimbursement for its prenatal LDTs, namely the MaterniT21 PLUS test, the HerediT CF test, and the SensiGene RHD test. The MaterniT21 PLUS and SensiGene RHD tests use foundational, noninvasive, circulating cell-free fetal (ccff), nucleic acid-based assay technology. This technology uses a maternal blood sample for a prenatal diagnosis or risk assessment in order to provide reliable information about the presence, amount or absence of fetal genetic material in early pregnancy. The Company also provides an eye test called RetnaGene AMD test.
MaterniT21 PLUS LDT develops, validates and to detects fetal chromosomal abnormalities by determining the relative amount of chromosomal material present in circulating cell-free 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, 18 and 13. Patient samples are collected by blood draw and submitted to Sequenom Laboratories for testing and test results are reported back to the ordering clinician. The test also includes detection of increased representation of chromosomes 21, 18 and 13 material (associated with trisomy 21, 18 and 13 respectively) and the presence of the Y chromosome, chromosomal abnormalities associated with chromosomes 16, 22, sex chromosomes X and Y, and select microdeletions. The test uses fetal samples obtained by amniocentesis or chorionic villus sampling and can be ordered by a physician independently from the MaterniT21 PLUS LDT or ordered as a confirmatory test in the event of a positive MaterniT21 PLUS test result. MaterniT21 PLUS LDT is performed at San Diego, California and Raleigh-Durham and North Carolina laboratory.
HerediT CF LDT develops, validates and performs 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 broad set of phenotypically relevant genetic mutations. 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. The test also provides screening tests for Ashkenazi Jewish disorders, spinal muscular atrophy and fragile X syndrome. HerediT CF LDT is performed at at Grand Rapids, Michigan.
SensiGene RHD LDT develops, validates and performs 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. 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 test is performed at Grand Rapids, Michigan.
RetnaGene AMD LDT develops, validates and performs the RetnaGene AMD test to predict the risk of a patient with dry or early stage AMD progressing to wet or advanced choroidal neovascular disease within 2, 5 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. Sequenom offers the test to retinal disease physician practices, in the United States, Canada, Puerto Rico and Mexico.
Sequenom provides physician education through its website, material provided to local advocacy groups, local and national media campaigns and educational materials and seminars provided to maternal fetal medicine specialists, genetic counselors and obstetricians. Sequenom laboratories offer prenatal diagnostic tests in Germany, France and other German and French speaking countries.
Sequenom bioscience manufactures and sells MassARRAY System, a mass spectrometry based platform for genetic analysis of research use only hardware, software applications, and consumables, including SpectroCHIP miniaturized array chips, research use only biomarker assay panels, and reagents. The MassARRAY System is a nucleic acid analysis research use only platform that measures genetic target material and variations. The MassARRAY System is marketed for mid-level plexing applications, that is, measuring up to 400 biomarkers simultaneously in a single sample. The research customers include clinical research laboratories, agricultural biotechnology, biotechnology, pharmaceutical companies, academic institutions and government agencies. The Company’s MassARRAY System provides results for a range of DNA/RNA analysis applications, including single nucleotide polymorphism (SNP) genotyping, detection of mutations, analysis of copy number variants, and structural genome variations.
The MassARRAY System provides quantitative gene expression analysis, quantitative DNA methylation analysis and comparative sequence analysis of haploid organisms, SNP discovery, and oligonucleotide quality control. Oncology and translational research products include key research tools for translational and clinical research, which allow evaluation of genomic alterations and mutations. Pharmaceutical and biotechnology companies use MassARRAY Systems to identify genetic alterations arising in tumors or residing in an individuals' genome. Biomedical research creates SNP maps to determine allele frequencies in different ethnicities or species. Agricultural (plant crops and livestock) market uses genetic testing for trait selection and feedlot management. Genetic analysis includes the study of crops, maize, rice, sugarcane, and others products, such as nutritional quality, disease resistance and crop yields. Sequenom bioscience has sales and support offices in San Diego, California, Germany, China, Japan and Australia.
The Company competes with Ariosa Diagnostics, Inc., Beijing Genomics Institute, Cellscape Corp., Celula Inc., Ikonysis, Inc., Kellbenx, Inc., Laboratory Corporation of America Holdings, Inc., Natera, Perkin Elmer, Inc., Quest Laboratories, Verinata, Life Technologies Corporation, Illumina, Qiagen, Fluidigm Corp., Ibis Biosciences, Inc., Luminex, KBiosystems, and RainDance Technologies, Inc.
3595 John Hopkins Court
SAN DIEGO CA 92121-1331