Why Should I Be Screened?

Genetic screening is a powerful tool that can determine if you or your partner is a carrier of an inherited genetic condition. You can be a carrier without having the condition itself — in fact each of us carries a genetically inherited condition — any one of which we can pass on to our children. You could be a carrier of a common genetic condition, such as Tay-Sachs or cystic fibrosis without knowing it. Regardless of your family history, ethnicity, age, or personal health, the only way to know for sure is to be screened.

Why Should I Be Screened?

Discovering Your Genetic Inheritance

The human body is made of trillions of cells. The vast majority of our cells contain our genetic information, which is inherited from our parents in the form of DNA (deoxyribonucleic acid). 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 (or mutations) 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 cause disease based on whether they are recessive or dominant.

Recessive Genetic Disease

A recessive genetic disease 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 disease even though you are not affected by that disease.

In order for carriers to pass on a recessive gene, both partners would have to be carriers of the same genetic disease.

Dominant Genetic Disease

A dominant genetic disease 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 disease (recessive diseases require both copies to have variants). If either you or your partner have a dominant genetic disease, you run a 50% risk of having a child affected by that genetic disease.
NxGen-MDx_Genetic-Carrier-Screening_Gene_Helix

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, while females have two X chromosomes. Some disorders are caused by variants or alterations of the X chromosome. Generally, if a woman has a pathogenic variant on one of the genes 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.

Which Screens Are Right for You?

Determining which screens or set of screens are right for you will depend on where you are in your reproductive journey. Tell us where you are today so you can learn more about how to move forward tomorrow.

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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

Connect With Our Customer Care Center

Get answers to all your questions related to billing, insurance coverage, the status of your screening results, and more by calling us at (855) 776-9436 or clicking the link below.

Connect With Our  Customer Care Center