About Us

The Mount Sinai Genetic Testing Laboratory (MGTL) provides high quality genetic testing and interpretative services for routine and esoteric genetic tests with a rapid turnaround time in an academic setting. We are CLIA, New York State (NYS) approved and College of American Pathologists (CAP) accredited. Our laboratories include Biochemical Genetics, Cytogenetics and Cytogenomics, and Molecular Genetics. We continually work with clinical geneticists within the department of Genetics and Genomic Sciences and the Mount Sinai medical and research community to develop new tests and deliver state of the art testing to patients. Our uniqueness is also exemplified by our integrated approach to genetic medicine—the team approach, in which laboratory directors work closely with clinical geneticists and genetic counselors in order to provide the most thorough, comprehensive patient services. We are also an American Board of Medical Genetics (ABMG) training site for all three laboratory specialties, and it is our goal to facilitate the education and training of highly knowledgeable genetics professionals.

Lab Directors

Biochemical Genetics Laboratory

Our laboratory performs comprehensive Newborn Screening (NBS) confirmatory testing, including amino acids, organic acids and carnitine/acylcarnitine profiles. We also provide monitoring services on methylmalonic acid, orotic acid, succinylacetone and a panel of 6 amino acids for PKU and MSUD patients. Our lysosomal Fabry and Gaucher enzyme testing and Gaucher biomarker-Chitotriosidase activity provides laboratory support for the Lysosomal Storage Disorders program. We also perform Tay-Sachs and Sandhoff enzyme assays for carrier screening as well as enzymatic prenatal testing in conjunction with molecular testing for at risk families. We have been approved by NYS to provide Tamoxifen metabolites analysis for Estrogen Receptor (ER) positive breast cancer patients receiving Tamoxifen treatment. This assay is in run in conjunction with CYP2D6 genotype to allow personalized tamoxifen dosing requirements for breast cancer patients. We are the only clinical lab in the country offering such testing services. Our 5-aminolevulinic acid (ALA) and porphobiligogen (PBG) panel in urine and blood has also been also recently approved by NYS to provide biochemical diagnostic and monitoring services for acute porphyrias.

Cytogenetics and Cytogenomics Laboratory

Our Cytogenetics laboratory has always led the way with the most recent diagnostic advances in cytogenetic testing. Members of our cytogenetics group have described many syndromes and cytogenetic abnormalities. We are a high volume academic laboratory that services the entire Mount Sinai community and beyond. For CVS, we developed a method to obtain preliminary results within hours of the procedure, in order to provide rapid screening for high risk pregnancies with common aneuploidies. Our prenatal aneuploidy FISH screen is reported within 24 business hours of receipt of the specimen in > 99% of cases. This is especially useful, as many of our patients are of advanced maternal age or have had abnormal screening results. We have also had success in working with very small specimens (less than 0.5 mg), when larger samples are not available.

In addition, our laboratory combines cytogenetic and molecular techniques including fluorescence in situ hybridization (FISH) and the latest microarray technologies for the detection of deletion and duplication syndromes. We routinely perform FISH and array comparative genomic hybridization (aCGH) on both pre – and postnatal specimens. It is our ultimate goal to help to significantly reduce the incidence of genomic disorders through offering enhanced prenatal screening to all of our patients.

Molecular Genetics Laboratory

Our Molecular Genetics laboratory is at the forefront in performing population screening of inherited disorders. With our recognized expertise in disorders prevalent in the Ashkenazi Jewish population, we currently provide the most comprehensive Ashkenazi Jewish Prenatal Genetic Screening panel (screening for 18 diseases) in the United States. In addition, we perform prenatal testing for all 18 disorders on direct chorionic villus samples, and report results within 4-7 days of the receipt of the specimen. Our comprehensive prenatal analysis program includes maternal cell contamination studies and mutation analysis with specimen requirements of only 2-4 mg of direct CVS, ensuring that most at risk couples will receive a result in the first trimester of the pregnancy. We also perform pan-ethnic screening including cystic fibrosis, fragile X and SMA testing.

The Laboratory currently performs sequence analysis for several single gene disorders, including Roberts syndrome, Tay-Sachs disease, Niemann-Pick Disease (A+B) and Fabry disease. We offer a craniofacial disorders gene panel and a panel of genes that confer susceptibility to porphyria. We also offer pharmacogenetic testing, including the most comprehensive screen for Warfarin (coumadin) variations.