HerediT® Cystic Fibrosis Carrier Screen
Because parenting starts before birth.

 

Overview

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Information that can help you plan

When you’re planning a family, it's natural to worry about the health of your baby. Many parents choose to have genetic testing to learn more about conditions that could affect their family.

Cystic fibrosis (CF) is one of the most common inherited health problems. Most people who carry mutations (changes) in the gene for CF don’t know it. If you and your partner both carry a mutation, your baby could inherit CF. The only way to know your risk is to be tested. You and your doctor can use your test results to learn about your risk and make informed decisions about what’s right for you during your pregnancy.

The test we've developed, the HerediT® Cystic Fibrosis Carrier Screen, is the best in class for determining whether you or your partner is a carrier for cystic fibrosis. The test is available for everyone, and may be especially useful if you or your partner has a family history of CF or have other findings that indicate an increased risk for CF, so ask your doctor about the HerediT Cystic Fibrosis Carrier Screen.

No test is perfect

While results of the HerediT Cystic Fibrosis Carrier Screen test are highly accurate, a negative result significantly reduces but does not eliminate the chance of being a carrier.  The results of this testing, including the benefits and limitations, should be discussed with your health care provider.

Simple answers to important questions.

Cystic fibrosis is one of the most common genetic conditions in the United States. Changes in the CFTR gene cause the body to produce thick sticky mucus in the lungs, pancreas and other organs that can affect breathing and digestion. CF does not affect everyone the same way - some people may be more severely affected than others. Symptoms can range from moderate to severe and can even impact fertility. The average lifespan of someone with CF is 37 years33.

It is estimated that more than 10 million Americans are carriers of CF. While the risk of being a CF carrier is dependent upon one's ethnicity and family history, individuals of all racial and ethnic groups may be carriers.

For more information, please visit the Johns Hopkins CFTR2 website.

Cystic fibrosis is inherited in a recessive pattern. This means that in order to be affected a person must inherit two disease-causing mutations - one from each parent. Both parents must be carriers of one of the CF disease-causing mutations in order for them to be at risk of having an affected child. Carriers have only one mutation and usually have no symptoms of CF.

If both parents are carriers, there is a 1 in 4 (25%) chance with each pregnancy that a child will have CF. It is estimated that 1 in 25 Americans are carriers of CF34.

The HerediT Cystic Fibrosis Carrier Screen tests your DNA for the mutations that cause cystic fibrosis. Your health care provider will take the sample (blood or cheek swab) in his or her office and send it to our laboratory. Test results are typically reported to your health care provider approximately 7 days after our laboratory receives your sample. Your result with either be positive (you are a carrier of the CF mutation) or negative (you are not a carrier of the CF mutation).

More FAQs
 

Learn more

To learn more about the HerediT Cystic Fibrosis Carrier Screen test, view and/or download this patient brochure.

HerediT CF brochure English
HerediT® CF brochure
(English)
 

Ask your health care provider

cystic fibrosis screening with HerediT CF

Who should consider cystic fibrosis carrier screening?

The American College of Obstetricians and Gynecologists (ACOG) recommends offering cystic fibrosis carrier screening to all patients, and that newborn screening for CF should not replace maternal carrier screening33.

Who may benefit from a cystic fibrosis carrier screening test?

  • Couples considering having a child or those already pregnant.
  • Patients with a family history of CF or male infertility.
  • Patients who have a reproductive partner who is a CF carrier.
  • Patients with ultrasound findings that indicate an increased risk for CF.

Why is carrier screening for cystic fibrosis important?

Carrier screening tests help identify individuals who may have an increased risk of having a baby with certain genetic conditions. Even if you have no risk factors, you may be a carrier of a mutation that is known to cause cystic fibrosis.

What does a negative CF carrier screen test result mean?

A negative CF carrier screen test result significantly reduces your risk of being a CF carrier, but it does not reduce your risk to zero. No test is perfect. False positive and false negative results may occur in rare cases. And not all CF mutations may even be known at this time. A negative test result can’t completely eliminate the chance of you being a carrier, but can be very reassuring. The results of this testing, including the benefits and limitations, should be discussed with your health care provider.

What does a positive CF carrier screen test result mean?

A positive CF carrier screen test result means you have one copy of a mutation that is known to cause CF. It does not mean you have CF. If you are found to be a CF carrier, then your partner should be offered testing. If you are both found to be CF carriers, your doctor, genetic counselor, or other health care provider will discuss reproductive and prenatal testing options with you.

Support

Our commitment to scientific integrity is matched only by our commitment to customer service

We know how important these results can be to you. We are committed to providing you with outstanding customer support in all areas, including: 

  • Testing services questions.
  • Billing services, patient assistance programs, and reimbursement questions.
  

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