Genetic Testing Option

Mount Sinai's Department of Genetics and Genomic Sciences—one of the largest medical genetics centers in the United States—provides expert diagnostic, therapeutic, and counseling services for patients and families with genetic disorders, birth defects, and pregnancy loss. We perform sophisticated diagnostic tests in state-of-the-art DNA, biochemical, and cytogenetics laboratories. The Department has more than 50 internationally recognized physician and scientist faculty members, 10 experienced genetic counselors, and a full support and research staff of more than 150 people who provide expert services.

At Mount Sinai's Comprehensive Health Program, we offer additional services that span various medical areas. Upon request, a genetics consultation or any of the following services can easily be arranged and incorporated into your program.


  • General Family History
    A genetic counseling consultation typically begins with a review of an individual or couple's pregnancy, medical, family histories, and relevant medical records, including previous genetic testing. Based on the information provided, the genetic counselor and/or physician can evaluate an individual's/couple's risk to have a baby with a birth defect or genetic disorder. In addition, the benefits, limitations, and risks of available diagnostic procedures are explained and appropriate blood-work and/or prenatal testing is offered.
    • Initial Consultation  - $300
    • Post Test Consultation - $200

  • Cancer Genetic Counseling
    The Cancer Genetic Counseling Program helps families to understand their personal and/or family history of cancer, evaluates the likelihood of a hereditary cancer susceptibility in the family, and coordinates genetic testing for individuals who choose this option.
    • Initial Consultation - $300
    • Post Test Consultation via Telephone - $200
    • Post Test Consultation in Person - $300

Laboratory Testing

  • Chromosome Analysis - $1200.00
    For prenatal cases, chromosome analysis is indicated for advanced maternal age, family history of genetic disease or chromosome abnormality, abnormal maternal serum screening and/or abnormal ultrasound findings.
    For postnatal cases, chromosome analysis is indicated for individuals with multiple congenital anomalies, mental retardation, developmental delay, dysmorphic features, sexual ambiguity, multiple miscarriages, infertility, or fetal demise.

  • Sinai Expanded Carrier Screening Panel - $5,000
    The Expanded Carrier Screening Panel is a pan-ethnic test for mutations associated with one hundred single gene disorders. Testing is performed by mutation analysis for each of these disorders as well as enzyme analysis for Tay-Sachs disease. Because of the serious and life-threatening nature of several of these conditions and the lack of available treatment, prevention is the best strategy for combating these diseases. Carrier screening and appropriate genetic counseling can be used to dramatically reduce the incidence of these disorders.
    • Includes Ashkenazi Jewish Carrier Screening Panel, Tay-Sachs Enzymes, Cystic Fibrosis, Fragile X and Spinal Muscular Atrophy (SMA) Carrier Testing

  • Cystic Fibrosis, Fragile X and SMA Carrier Testing - $3000

  • Fragile X Carrier Testing - $1000

  • Targeted Mutation Analysis - $500
    This sequencing service is provided for:
    1. Testing other family members for a known mutation
    2. Confirming a mutation found by a research lab.

  • Pharmacogenetic Testing - $1500.00
    Pharmacogenetics is the study of genetic variability that causes individual responses to medications. By analyzing the genes that produce the specific drug targets or enzymes that metabolize a medication or are associated with immune response, a doctor may decide to raise or lower the dose or even change to a different drug. The decision about which drug to prescribe may also be influenced by other drugs the person is taking, in order to avoid drug-drug interactions.

Contact Us

Comprehensive Health Program
1190 Fifth Avenue
New York, NY 10029

Tel: 212-241-8000
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