Batten disease
PerkinElmer to Provide Testing for BioMarin Program in Mexico
PerkinElmer will provide biochemical and genetic testing to support BioMarin's testing program aimed at Batten disease and mucopolysaccharidosis disorders.
The partners are deciding whether to run the multiplex test on a microarray or a sequencing platform. Factors in the decision include the complexity of the test and the technical feasibility of multiplexed, targeted resequencing.
Foundation Working with NCGR on Multiplex Genetic Test for Rare Diseases
The foundation hopes to have a screening test for 75 rare diseases on the market in the fall.