SAN DIEGO, — Sequenom, Inc. (NASDAQ: SQNM), a life sciences company providing innovative diagnostic testing and genetic analysis solutions, today announced its wholly-owned subsidiary, Sequenom Center for Molecular Medicine (Sequenom CMM), presented results from a study of its RetnaGene AMD laboratory-developed test to predict risk of disease progression during the 2012 Joint Meeting of the American Academy of Ophthalmology and the Asia-Pacific Academy of Ophthalmology in Chicago.

This Sequenom CMM laboratory-developed genetic test (LDT) combines patient disease stage with patient genetic variation to evaluate the risk of a patient with early or intermediate AMD to progress to advanced choroidal neovascularization (CNV) disease within 2, 5, and 10 years. CNV is the most common form of ‘wet’ advanced age-related macular degeneration (AMD), in which new blood vessels in the eye leak fluid, compromising central vision. Advanced disease impacts approximately 10 percent of AMD patients, but is associated with 90 percent of vision loss in AMD.

The clinical validation of the laboratory test predicting progression to CNV was conducted using patient DNA samples made available through the National Eye Institute’s Age-Related Eye Disease Study (AREDS). More than 2,000 patients were genotyped for 13 single nucleotide gene polymorphisms (SNPs) in genes previously shown to be associated with CNV. Sequenom CMM compared the predictive value of a phenotype model, based on the assessment of disease grade currently used in clinical practice. The predictive model that combined genotype with phenotype was found to be more accurate in predicting CNV progression (AUC=0.96) than the phenotype model alone based on disease grade (AUC=0.89), concluding that inclusion of the genotype assessment is more effective in predicting CNV progression compared with phenotype alone.

“Physicians today rely on an assessment of patient disease stage to predict the risk of progressing to CNV, and this genetic laboratory developed test will help improve the accuracy of prediction by assessing individual risk based on the genetic predisposition of the patient,” said Allan T. Bombard, M.D., Sequenom’s Chief Medical Officer.

The study was conducted in compliance with the Coriell Cell Repositories Institutional Review Board, in accordance with Department of Health and Human Services (45 CFR Part 46). The dataset used for the analysis was obtained from the National Eye Institute-Age-Related Eye Disease Study (NEI-AREDS) Genetic Repository. Funding support for AREDS was provided by the National Eye Institute grant N01-EY-0-2127, National Institutes of Health, Bethesda, Maryland.

At the meeting: Paper 30031594: Combining Genotype and Phenotype to Predict Progression to Choroidal Neovascularization (CNV) in Patients with AMD (Presented Monday, November 12, 3:42 PM in S406B)

About Sequenom

Sequenom, Inc. (NASDAQ: SQNM) is a life sciences company committed to improving healthcare through revolutionary genetic analysis solutions. Sequenom develops innovative technology, products and diagnostic tests that target and serve discovery and clinical research, and molecular diagnostics markets. The company was founded in 1994 and is headquartered in San Diego, California. Sequenom maintains a Web site at https://www.sequenom.com to which Sequenom regularly posts copies of its press releases as well as additional information about Sequenom. Interested persons can subscribe on the Sequenom Web site to email alerts or RSS feeds that are sent automatically when Sequenom issues press releases, files its reports with the Securities and Exchange Commission or posts certain other information to the Web site.

Sequenom CMM, LLC

Sequenom Center for Molecular Medicine® (Sequenom CMM), a CAP accredited and CLIA-certified molecular diagnostics laboratory, is developing a broad range of laboratory-developed tests with a focus on prenatal and ophthalmic diseases and conditions. These laboratory-developed tests provide beneficial patient management options for obstetricians, geneticists, maternal fetal medicine specialists, retinal specialists and ophthalmologists. Sequenom CMM is changing the landscape in genetic disorder diagnostics using proprietary cutting edge technologies.