Genetics, Genomics, Lysosomal Storage Diseases, Mass Spectrometry, Metabolism, Porphyria
Genetics, Genomics, Lysosomal Storage Diseases, Mass Spectrometry, Metabolism, Porphyria
Multi-Disciplinary Training Area
Genetics and Genomic Sciences [GGS]
Genetics and Genomic Sciences [GGS]
Research
Laboratory diagnosis and monitoring of inborn errors of metabolism (IEM):
Laboratory diagnosis and monitoring of inborn errors of metabolism (IEM):
· Metabolic disorders of amino acids, organic acids and fatty acids
· Lysosomal storage disorders (LSD)
· Porphyrias
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.
Laboratory biochemical testing and correlation of biochemical findings with the genomic testing results for the best and accurate diagnosis of inborn errors of:
· Amino acids, organic acids and fatty acids metabolism
Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device, biotechnology companies, and other outside entities to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their outside financial relationships.
Dr. Yu has not yet completed reporting of Industry relationships.
Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.
Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device, biotechnology companies, and other outside entities to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their outside financial relationships.
Dr. Yu has not yet completed reporting of Industry relationships.
Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.
