nxtPanel Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X Syndrome

A Guide to Genetic Carrier Screening

Prepare for life. It’s not about finding out what’s wrong. It’s about knowing everything is

all right.

If you’re an expectant parent, or planning a pregnancy, you probably want to know all you can about your future family. Genetic carrier screening allows for a closer look at your genes, to see if there is a chance your baby could inherit certain genetic disorders. Our nxtPanel is a genetic carrier screening test that can identify your risk for having a child with one of these common hereditary disorders: cystic fibrosis, spinal muscular atrophy, and fragile X syndrome. It’s a simple test that can help you plan with confidence.

How is the test performed? A simple test of your DNA (using a blood sample, mouthwash sample or cheek swab) can determine with a high degree of accuracy whether you are a carrier of a genetic disorder.

Disease

Cystic Fibrosis (CF)

Spinal Muscular Atrophy (SMA)

Fragile X Syndrome (FXS)

Symptoms

CF is the most common fatal genetic disorder in North America.

SMA is the most common inherited cause of infant death.

FXS is the most common inherited cause of intellectual disability.

It affects a person’s ability to control their muscles, including those involved in breathing, eating, crawling and walking. SMA has different levels of severity, none of which affect intelligence. However, the most common form of the disorder causes death by age two.

Symptoms cover a wide range, from mild to very severe. About one-third of all people with FXS also have autism.

It causes the body to produce very thick mucus that can damage internal organs. It clogs the lungs—leading to life-threatening infections—and can cause digestive problems, poor growth and infertility. Symptoms range from mild to severe, but do not affect intelligence. On average, CF patients live into their late thirties. About 1 in every 3,500 babies born in the US has the disorder.

About one in every 6,000 to one in every 10,000 babies born in the US has SMA.

Individuals with the disorder may also have behavioral issues such as hyperactivity, social anxiety and aggression. Females usually have milder symptoms than males. Approximately 1 in every 3,600 boys and 1 in every 6,000 girls is born with FXS.

Inheritance

When both parents are carriers, there is a 1 in 4 (25%) chance the child will be affected.

When both parents are carriers, there is a 1 in 4 (25%) chance the child will be affected.

When only the mother is a carrier, there is up to a 1 in 2 (50%) chance the child will be affected.

Carrier Frequency

1 in 24 Ashkenazi Jews 1 in 25 Caucasians 1 in 46 Hispanics 1 in 65 African-Americans 1 in 94 Asians

1 in 35 Caucasians 1 in 41 Ashkenazi Jews 1 in 53 Asians 1 in 66 African-Americans 1 in 117 Hispanics

1 in 259 females across all ethnic groups

What does a negative result mean?

What does a positive result mean?

A negative result indicates you are not a carrier for the disorders tested, which can provide significant peace of mind. However, no test can detect 100% of genetic carriers. Even if your test results are negative, it is still possible that your baby could inherit a genetic disorder, but the chance is extremely small.

A positive result tells you that you are a carrier of a genetic disorder, and you could be at risk of having an affected child. In some cases, it is important to find out if your partner is also a carrier.

How are genetic disorders inherited? You have two copies of every gene: one copy was inherited from your mother and one copy from your father. A person who has one normal gene and one abnormal gene that can cause a genetic disorder is called a carrier. A carrier is not affected by the disorder, but they can pass on the abnormal gene to future generations. Anyone can be a carrier of a genetic disorder, even if there is no family history. Many times, genetic disorders stay “hidden” in a family. You could be a carrier and not know it until a child is born with the disease.

What if my partner and I are at risk for having a child with a genetic disorder? If you are pregnant, prenatal diagnostic tests can tell you whether your baby is affected by the disorder. There are also options to prevent genetic disorders prior to pregnancy. These options include in vitro fertilization, using a diagnostic test to select healthy embryos for implantation, or using donor eggs or sperm from a person who is not a carrier. Some couples choose to adopt a child. Your doctor or a genetic counselor can discuss these options in greater detail.

Is genetic carrier screening required? All testing is optional. The decision to accept or decline genetic carrier screening is completely up to you. You can choose to test for all, some, or none of these disorders.

For more information, visit progenity.com

Scan this code with your mobile phone to watch a video about genetic carrier testing.

Peace of Mind for Patients At Progenity, we believe all patients should have access to the highest-quality genetic tests without the burden of exorbitant medical costs. That’s why we offer the Peace of Mind program, which provides payment assistance for patients who are facing financial difficulties. To discuss your options, please call us toll-free at +1 855-293-2639, option 4.

5230 S. State Road, Ann Arbor, MI 48108 Tel +1 855-293-2639 progenity.com Progenity is a CLIA-licensed clinical laboratory and is accredited by the College of American Pathologists (CAP). The information contained in this brochure is provided by Progenity as an educational service for physicians and their patients. © 2013 Progenity, Inc. All rights reserved. Progenity TM is a trademark of Progenity, Inc.

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