Chunli Yu, MD
- ASSOCIATE PROFESSOR | Genetics and Genomic Sciences
BS, Peking University
MD, Peking Union Medical College
Postdoctoral fellow, Yale University
Resident, Peking Union Hospital
Laboratory diagnosis and monitoring of inborn errors of metabolism (IEM):
· Metabolic disorders of amino acids, organic acids and fatty acids
· Lysosomal storage disorders (LSD)
Biochemial Genetic laboratory performs comprehensive NBS confirmatory testing, including amino acids, organic acids and carnitine/acylcarnitine profiles. We also provide monitoring testing service on methylmalonic acid, orotic acid, succinylacetone and a panel of 6 amino acids in plasma and DBS samples for monitoring PKU and MSUD patients. Ourcurrent lysosomal enzyme testing (Tay-Sachs, Fabry, Gaucher, Sandhoff) and Gaucher biomarker-Chitotriosidase activity supports the Lysosomal Storage Disorders program in our department. For Tay Sachs disease, we provide comprehensive molecular and enzymatic prenatal testing for the at risk families. New 9-plexed lysosomal enzyme assay (Gaucher, Fabry, Krabbe, Nimann-Pick, Pompe, MPS I, II, IV and VI) using LC-MS/MS are coming soon to expand our LSD panel. We have developed and validated a sensitive, specific urine and plasma 5-aminolevulinic acid and porphobilinogen assay using LC-MS/MS for the diagnosis and monitoring of acute porphyria awaiting NYS approval.
Pharmocogenetics (metabolites profile):
Recently we have been approved by NYS to provide Tamoxifen metabolites analysis for ER positive breast cancer patients on Tamoxifen treatment. This assay in conjunction with CYP2D6 genotype allows the personalized treatment for breast cancer.