At NewYork-Presbyterian, our highly personalized approach to genetic testing, screening, and counseling, coupled with our unmatched genetic resources and services, equips you with evidence-based care and support to make informed health decisions that are aligned with your values.

What is Genetic Testing?

What is Genetic Testing?

Genetic testing analyzes a person's genetic makeup to help learn whether they, their partner, or their baby may be at risk for certain medical conditions or have a genetic diagnosis. Our genetics specialists apply their vast expertise in genetic analysis and interpretation with the latest technologies to evaluate your or your pregnancy's risks, provide compassionate genetic counseling, and formulate a care plan tailored to your needs.

What’s the Value of Genetic Testing?


Genetic testing provides personalized information about your or your baby's health and may be beneficial in managing your own health, planning a pregnancy, or best caring for your pregnancy or newborn.

Genetic counseling may not be equally important to all parents, and each patient has the right to decline testing.

At NewYork-Presbyterian, our expert genetics specialists offer state-of-the-art genetics testing services to:

  • Help with family planning by determining whether a genetic condition runs in your family
  • Identify the chance that a current or future pregnancy could inherit a genetic disease and discuss genetic testing options available before or during pregnancy
  • Assess the risk of having a hereditary cancer susceptibility, including breast and gynecologic cancers
  • Diagnose genetic diseases in a fetus in order to optimally plan for prenatal management, delivery, and care of the newborn
  • Diagnose select genetic disorders in which early knowledge can be beneficial for your health


How is Genetic Testing Done?


Our genetics specialists offer comprehensive genetic testing services for patients and their families suspected of having genetic disorders. We'll begin the testing process by completing a thorough medical and family history and medical record review to determine how likely it is that you or your pregnancy may have a genetic condition. Many genetic tests may be performed through blood or saliva samples or prenatal procedures such as chorionic villus sampling and amniocentesis. The genetic counselor will discuss test options available to you and the benefits and limitations of each test. We'll also review the timeline for receiving results and what you should expect throughout the process.

About Our Genetic Testing, Screening, and Counseling Services


Our genetics specialists include board-certified maternal-fetal medicine physicians with specialized education and training in clinical genetics, certified genetics counselors, nurse practitioners, and physician assistants. We closely collaborate with NewYork-Presbyterian women's health clinicians to assist patients in a wide range of reproductive genetics services, including family planning, pregnancy management, and the evaluation of their lifetime risk for inherited breast cancer and gynecologic cancer.

Preconception screening and family planning

NewYork-Presbyterian offers comprehensive preconception (carrier) screening for those concerned about the risk of having a child with a genetic disorder due to family history, ethnicity, or other factors. Knowing the risks for genetic disorders can help inform your family planning decisions.

Genetic counseling is also helpful for individuals or couples who have unexplained infertility or recurrent miscarriages. For patients considering in vitro fertilization (IVF), our genetics experts can explore the feasibility of performing preimplantation genetic testing (PGT), a procedure used during IVF to help identify chromosomal and other congenital abnormalities within embryos.

Our genetic counselors provide a range of services including:

  • Carrier screening for an expanded number of genetic disorders such as spinal muscular atrophy, Tay-Sachs disease, sickle cell disease, thalassemia, Duchenne muscular dystrophy, cystic fibrosis, and fragile X syndrome, amongst hundreds of others
  • Genetic testing and counseling for patients with infertility, recurrent pregnancy loss, or a previous pregnancy with a genetic concern or congenital disability
  • Genetic testing and counseling for patients with a family or personal history of hereditary conditions or who want to learn more about risks to a future pregnancy
  • Creation of a prenatal genetic testing and management plan
  • Preimplantation genetic testing (PGT) to evaluate an embryo before it is transferred using in vitro fertilization (IVF) technologies
  • Exploring the option of transferring a mosaic embryo, an embryo found to possess both normal and abnormal cells during preimplantation genetic testing (PGT)

Prenatal genetic testing

Prenatal genetic testing gives expectant parents information about whether their fetus has a genetic disorder. We offer a full range of prenatal genetic testing options, including noninvasive blood screening, ultrasound imaging tests, chorionic villus sampling (CVS), and amniocentesis to detect a variety of common genetic disorders such as Down syndrome, sickle cell disease, cystic fibrosis, spinal muscular atrophy, and Fragile X syndrome as well as many other rare conditions.

Our team will explain all genetic testing options available to determine or rule out a genetic diagnosis. We’re here to support you through all testing decisions, results disclosure, and medical management decisions.

Prenatal genetic testing is recommended if you or your partner have:

  • A family history of genetic disorders
  • A baby with a genetic condition or congenital disability in a previous pregnancy
  • A history of recurrent pregnancy loss

Prenatal genetic counseling and testing are also available if you are generally interested in learning more about your pregnancy's genetic health.

We offer a full range of prenatal screening, diagnostic procedures, and consultations for individuals and their partners who are seeking information about the health of their fetus, including:

  • Genomic testing through chorionic villus sampling (CVS) and amniocentesis for thousands of genetic conditions such as Down syndrome, Edwards' syndrome, DiGeorge syndrome, Kabuki syndrome, CHARGE syndrome, achondrogenesis, amongst others
  • Genetic testing and evaluation of complex multi-fetal pregnancies
  • Genetic counseling and personalized testing plan for fetal anomalies discovered through prenatal imaging such as ultrasound, echocardiogram, or MRI
  • Nuchal translucency screening and cell-free fetal DNA testing/non-invasive prenatal testing (NIPT)
  • Consultation on genetic testing results to aid in clinical management decisions and planning

Genetic testing for breast cancer and gynecologic cancer

We offer the latest comprehensive genetic testing panels and counseling for individuals with a personal or family history of breast and gynecologic cancers of the ovaries and uterus.

Our patients receive comprehensive information about the recommended cancer genetic testing approach with personalized counseling to support decision-making and next steps. We work closely with our patients’ providers to integrate the test results into a care management plan, which may include regular screenings and follow-up care.

Our Approach to Care

Our Approach to Care

At NewYork-Presbyterian, our genetic counselors strive to understand each patient's goals, values, and concerns. They can offer personalized support and guidance to ensure that your decisions align with your values and beliefs.

As integral members of the NewYork-Presbyterian Women's Health team, our genetic counselors collaborate with ob-gyns and specialists in reproductive endocrinology, maternal-fetal medicine, family planning, breast cancer, and gynecologic oncology to treat and manage genetic risks according to each patient's unique needs. We also coordinate prenatal pediatric care for fetuses with congenital anomalies or genetic conditions.

We understand that receiving a genetic diagnosis or uncertain genetic results can be a difficult and confusing experience. For patients and their families coping with a genetic result and needing in-depth mental health support, we connect you to therapists that specialize in women's health and additional resources such as support groups.

Why Choose Us

Why Choose Us

The genetics teams of NewYork-Presbyterian/Columbia University Irving Medical Center and NewYork-Presbyterian/Weill Cornell Medical Center provide unmatched excellence in expert and innovative approaches to genetics, including genetic counseling, preconception screening, prenatal screening, and prenatal diagnosis for congenital disabilities and genetic disorders, and screening for breast and gynecological cancers.

Our physicians are board-certified maternal-fetal medicine specialists with advanced training in clinical genetics, and our genetic counselors are certified by the American Board of Genetic Counseling (ABGC).  Recognized both nationally and internationally for our expertise, patients with some of the most challenging genetic risks and conditions come to us for a second opinion or to re-evaluate the results of genetic test results received at another institution. Many of our physicians have pioneered some of the most innovative methods used in prenatal diagnosis today, such as microarray analysis, chorionic villus sampling (CVS), exome/genome sequencing, and multi-fetal reduction.

Advancing the field through research

Our physicians are at the forefront of discovering and implementing reproductive genetics technologies. Many of these studies have appeared in leading medical journals and have led to obstetric care and genetics practice changes. You may have the opportunity to participate in research studies to improve care and clinical trials of innovative fetal therapies and prenatal genetic testing approaches.

Get Care

Make an Appointment with a Genetic Counselor

As one of the nation's most comprehensive, integrated academic healthcare systems, we provide accessible care to our patients across the Greater New York area. Our leading specialists in genetic testing provide both high quality and convenient care to our patients in Manhattan, Queens, Brooklyn, and Westchester.