From family planning to prenatal care, Ambry Genetics is dedicated to supporting you and your reproductive partner with information built on accuracy and clarity.

Our screening tests are based on the latest recommendations from the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) to help identify potential health conditions when you’re planning a pregnancy or expecting a child.

Empowered Planning & Preparation

Regardless of family history, anyone can have a baby with a genetic condition. That is because some genetic conditions happen by chance. Others are due to both members of a couple “carrying” a harmful difference in the same gene and passing those genetic differences to a child. Couples may not know they carry such genetic differences because they don’t have a personal or family history of the condition.

Genetic screening tests can provide valuable insights to guide your family planning journey. When you understand what’s in your genes or the genetics of a pregnancy, you can make more informed choices and feel more confident when discussing options for family planning and pregnancy management with your health care providers. The American College of Medical Genetics and Genomics (ACMG) recommends informed decision-making as a part of the carrier screening and NIPT process.

Two test tubes
1. Planning

Comprehensive education on carrier screening for both reproductive partners

Developing embryo
2. Early Pregnancy

Comprehensive education on and testing results on NIPT

Developing fetus
3. Later Pregnancy

Ongoing access to resources & support services

Stork delivering a package in a blanket
4. Delivery

Ensure patients are prepared for their baby’s genetic health

Screening Tests

Ambry Genetics offers the following screening tests to help inform you of potential genetic conditions:

Carrier Screening

This routine lab test is recommended before pregnancy but is also available during pregnancy. Carrier screening helps you and your reproductive partner learn your risk of passing certain genetic differences that can lead to a genetic condition in a child, regardless of your family history.

The core offering includes screening for cystic fibrosis (CF), spinal muscular atrophy (SMA), and the Ashkenazi Jewish Panel (analyzing 48 genes). Your health care provider may choose to add additional panels, including FMRI (Fragile X syndrome), a Guidelines-based panel (up to 163 genes), or a Comprehensive panel (up to 418 genes)

Explore Carrier Screening
Non-Invasive Prenatal Testing (NIPT)

Also known as cell-free DNA screening, NIPT is a less invasive chromosomal screening test that examines DNA from the placenta that is present in the mother’s blood. The test screens for certain chromosomal conditions and can be conducted as early as 10 weeks into pregnancy with a routine lab test.

The most common chromosomal conditions that NIPT screens for are Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome). It can also screen for conditions such as sex chromosome aneuploidy (conditions that involve chromosome X or Y) and rare autosomal aneuploidy (conditions that involve chromosomes other than 21, 18, 13, X or Y).

Explore Non-Invasive Prenatal Testing (NIPT)

Why Ambry?

When it comes to genetic testing, not all labs are the same. Ambry Genetics has a long history of being a leader in genetic testing, a scientific innovator and a change-maker in patients’ lives. We’re committed to giving your health care provider the most advanced testing information available so that they can determine the best treatment options for you.

People working in the super lab

Equally important to our mission is improving your patient experience. That is why we developed our CARE (Comprehensive Assessment Risk and Education) Program™, a digital health platform that supports you through your health and family planning journey by providing access to educational resources, risk assessment, testing and supportive post-test genetic counseling if needed.

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Patient Experience

Everyone has a unique journey through pregnancy. Hear how the results of screening tests supported informed planning and preparation for these patients.

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