Test will be based on Sequenom’s MassARRAY technology.

The Immune Tolerance Institute and Sequenom are joining forces to develop a newborn screening test for severe combined immunodeficiency (SCID). The test will be based on the work of Jennifer Puck, M.D., University of California, San Francisco (UCSF). A feasibility study was recently successfully completed demonstrating the adaptability of Dr. Puck’s RT-PCR screening assay for SCID diagnosis on the MassARRAY® platform developed by Sequenom.

“Although universal newborn screening for metabolic conditions is well established, screening for immune disorders is new,” notes Dr. Puck, a professor in the department of pediatrics and the Institute for Human Genetics at UCSF. “Immunologists and public health professionals have recognized the value of SCID screening, but a high-throughput, sensitive, specific, and cost-effective test is needed. This collaboration between UCSF, ITI, and Sequenom is an ideal way to translate my laboratory research on T-cell receptor excision circles into the clinic.”

Sequenom’s MassARRAY system is a high-performance DNA analysis platform that efficiently and precisely measures the amount of genetic target material and variations therein. The system can deliver data from complex biological samples and from genetic target material that is only available in trace amounts.


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