Genetic Screening Basics

Put simply, genetic screening allows you to discover whether you or your partner carry a genetic disease that you might pass on to your child. It doesn't matter who you are or what your family history is, there's a one in two chance that you carry a genetically inherited disease that our Super Panel screens for. Screening can also reveal chromosomal disorders that may affect the health of your child.

Genetic Screening Basics

What is Genetic Screening?

Genetic screening is a way to look at your genes and detect if you are a carrier of an inherited genetic disease — such as cystic fibrosis — that you might pass on to your children. Other screens allow you to look for non-inheritable genetic conditions that can lead to conditions like Down syndrome.

When Should I Be Screened?

The ideal time to undergo carrier screening is prior to pregnancy. By doing so, you can get information to help you plan your reproductive journey. However, even couples who are expecting can benefit from what screening can reveal.

Everyone — regardless of health, family history, age, or ancestry — can benefit from undergoing genetic screening. Without screening, it's impossible to know whether you or your partner are carriers of an inheritable genetic condition that you can pass on to your children.

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When Should I Be Screened?

What Does NxGen MDx Screen For?

We screen for over 120 different inheritable diseases and non-inherited genetic conditions that can affect your pregnancy, the health of your baby, and your family's future. You can learn more about our various screens — and which sets of screens (or "panels") align with where you are in your reproductive journey.

Discovering Your Genetic Inheritance

The human body is made up of trillions of cells. The vast majority of our cells contain our genetic information, which is inherited from our parents in the form of deoxyribonucleic acid (DNA). A gene is a segment of DNA that is responsible for providing instructions, or a recipe, for how to make a specific protein that the human body needs for normal growth and development. If there are changes (also known as variants) in the recipe of a gene, that protein will be affected in some way and may not be able to complete its job in the human body. Genes are located on larger structures called chromosomes. Humans typically have 23 pairs of chromosomes, which we inherit from our parents—giving us two different copies of each gene that we have. Generally, genes can be either "recessive" or "dominant." The charts below show the how genes can be inherited and how variants can cause a genetic condition based on whether they are recessive or dominant.

Recessive Genetic Disease

A recessive genetic condition occurs when both copies of a particular gene have pathogenic variants. If you have one copy of a gene with a variant and one normal copy of that same gene, you are considered a "carrier" for that recessive genetic condition even though you are not affected by it.

In order for carriers to have a child affected by a recessive genetic condition, both partners would have to be carriers of the same condition.

Dominant Genetic Disease

A dominant genetic condition occurs when one of the two copies of a particular gene has a pathogenic variant. Only one of the copies of the gene needs to have a pathogenic variant in order for an individual to be affected by a dominant genetic condition (recessive conditions require both copies to have variants). If either you or your partner have a dominant genetic condition, you have a 50% risk of having a child affected by that condition.

X-Linked Disorders

The X and Y chromosomes (often called the sex chromosomes) determine whether a baby is male or female. Males have one X and one Y chromosome, while females have two X chromosomes. Some disorders are caused by pathogenic variants of the X chromosome. Generally, if a woman has a pathogenic variant in a gene located on an X chromosome, she is considered a carrier — and has a 50% chance of passing that variant onto her children. If she passes on the variant on to a male child, that child can be affected with the condition. Affected males will not pass the variant onto their sons, but daughters of affected males will be carriers of the variant. Female carriers rarely develop symptoms of the condition but their daughters have a 50% chance of being carriers.

Talk to a Genetic Counselor

As a NxGen client, you'll have access to personal genetic counselors who can help explain the results of your screens and provide insight on how to move forward. To schedule a personal conference to discuss your screen results, call (855) 776-9436. or click the link below.

Discuss Your Screening Results