Genetic Testing Lab

As part of the Icahn Institute and Department of Genetics and Genomic Sciences, we have specific labs dedicated to biochemical genetics, cytogenetics and cytogenomics, and molecular genetics. We are also an American Board of Medical Genetics (ABMG) training site for all three laboratory specialties. We strive to educate and train highly knowledgeable genetics professionals.

We offer high quality genetic testing, diagnostic and interpretive services for patients and families with genetic disorders and birth defects. Our state-of-the-art genomic facilities in New York and Connecticut enable rapid turnaround of large volumes of patient samples, helping to advance the new era of genomic medicine.

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New York Lab

Our lab provides first-rate genetic testing and interpretative services for routine and esoteric genetic tests. We are Clinical Laboratory Improvement Amendments (CLIA) and New York State approved, and accredited by the College of American Pathologists. Our laboratories include biochemical genetics, cytogenetics and cytogenomics, and molecular genetics.

We work with clinical geneticists from the Department of Genetics and Genomic Sciences, as well as our medical and research community to deliver state-of-the-art testing to our patients. We offer a unique, team-based approach to genetic medicine. Our laboratory directors work closely with clinical geneticists and genetic counselors in order to provide the most thorough, comprehensive patient services.

Contact Us
Tel: 212-241-7518
Fax: 212-241-0139 

Billing Contact
Tel: 212-241-8717
Fax: 212-876-7805

Shipping Address
Mount Sinai Genetic Testing Laboratory
1428 Madison Avenue
Atran Building, Room 2-25
New York, NY 10029

Connecticut Lab

Our Connecticut Lab is a high throughput, next-generation sequencing (NGS) facility. The lab is located in Branford, Connecticut, approximately 80 miles from New York City.

This state-of-the-art, highly automated DNA sequencing facility has the capacity to process in excess of 50,000 samples per year, whereby enabling us to rapidly complete large volume projects. For clients requiring high throughput, fast-turnaround sequencing, we provide a fully integrated workflow from sample receipt to detailed reports generated from the nucleic acid sequence data.

Our CAP accredited laboratory is accepting both non-clinical research samples, as well as clinical samples from 48 states; with New York and Florida licensure targeted for the end of 2016. Please contact us for additional information.

Contact Us
Tel: 203-483-3400
Fax: 203-483-3443

Billing Contact
Tel: 203-483-3400
Fax: 203-483-3443

Shipping Address
Mount Sinai Genetic Testing Laboratory
1 Commercial Street
Branford, CT 06405

Biochemical Genetics Laboratory

Our Biochemical Genetics Laboratory performs a wide range of testing including 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 six 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 also been approved 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 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 for urine and blood testing has also recently been approved. These tests provide biochemical diagnostic and monitoring services for acute porphyrias.

Cytogenetics and Cytogenomics

Our laboratory is leading the way with the most recent diagnostic advances in cytogenetic testing. We are a high volume academic laboratory that services the entire Mount Sinai community and beyond.

Members of our cytogenetics group have described many syndromes and cytogenetic abnormalities. For CVS, we developed a method that gives us preliminary results within hours of the procedure. This helps us provide rapid screening for high-risk pregnancies with common aneuploidies. The results of our prenatal aneuploidy FISH screen are reported within 24 business hours in over 99 percent of cases. This is especially useful, as many of our patients are older 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. We’re working hard to significantly reduce the incidence of genomic disorders by offering enhanced prenatal screening to all of our patients. 

Molecular Genetics Laboratory

Our molecular genetics laboratory performs population screening of inherited disorders. We have significant expertise related to those disorders prevalent in individuals of Ashkenazi Jewish descent. We currently provide the most comprehensive Ashkenazi Jewish prenatal genetic screening panel (screening for 18 diseases) in the United States.

We also perform prenatal testing for all 18 disorders on direct chorionic villus samples, and report results within four to seven days after receiving the specimen. Our comprehensive prenatal analysis program includes maternal cell contamination studies and mutation analysis. Since we have specimen requirements of only 2 to 4 mg of direct CVS, we can ensure that most at risk couples will receive their results within the first trimester.. We also perform pan-ethnic screening including cystic fibrosis, fragile X, and SMA testing.

We also perform 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.