OVERVIEW

HerediT® CF

A simple screening test to see if you and/or your partner are carriers of mutations in the cystic fibrosis gene.

Knowledge is the key to planning.

The HerediT® Cystic Fibrosis Carrier Screen is a laboratory-developed test, which uses either a blood or cheek swab sample to identify if you and/or your partner carries a disorder-causing mutation that could potentially lead to a health condition in your baby.



TEST DETAILS

HerediT® CF

Carrier screening test for cystic fibrosis.

Understanding the risk within

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Even a healthy individual with no family history of a specific condition and previous healthy children may be a carrier of a genetic disease that can be passed on to a baby. One such genetic disorder is cystic fibrosis.

Cystic fibrosis (CF) is one of the most common inherited diseases in the United States. Patients affected by CF have a broad range of moderate to severe symptoms and an average lifespan of only 37 years.1

More than 10 million Americans from across all racial and ethnic groups are carriers of the CF genetic mutation. The American Congress of Obstetricians and Gynecologists (ACOG) Committee on Genetics recommends cystic fibrosis carrier screening for all patients who are planning a pregnancy or seeking prenatal care.1

The HerediT® Cystic Fibrosis Carrier Screen test is performed using either a simple blood sample or a buccal (cheek) swab sample, and results are typically available to your health care provider within one week after receipt of the sample in the laboratory.

HerediT CF detection rates

The performance characteristics of the HerediT CF test have been analytically validated using CFTR gene mutations shown to be phenotypically relevant.1,2,3

Ethnicity Detection rate Population risk Residual risk after a negative screen
Caucaisan 93% 1/25 1/344
Ashkenazi Jewish 95% 1/24 1/461
Hispanic 82% 1/58 1/318
African American 76% 1/61 1/251
Asian 55% 1/94 1/208

1: Clinical and functional translation of CFTR. US CF Foundation, Johns Hopkins University, The Hospital for Sick Children Web site. http://www.CFTR2.org. Accessed Oct 4, 2012.

2: Update on Carrier Screening for Cystic Fibrosis, ACOG Committee Opinion No. 486. Obstet Gynecol. 2011;117(4):1028-1031.

3: Paladino T, et al. Comprehensive Cystic Fibrosis Screening Panel for the Detection of Clinically Relevant Mutations. Poster session presented at: American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting; 2013 June 20-23; Phoenix, AZ.

While the results of the HerediT® CF test are highly accurate, discordant results may occur due to bone marrow transplantation, blood transfusions, or other causes A negative test significantly reduces, but does not eliminate, the chance of being a carrier or having a child with CF because undetected rare mutations may influence the risk of developing disease. A patient with a positive test result should be referred for genetic counseling and further evaluation.



How it Works

Rest assured in five easy steps

Assess the following resources to learn more about your testing options, start the process with your physician and purchase a test.

Step 1


Explore
our genetic tests

Step 2


Talk
to your doctor

Step 3


Find
a blood draw location

Step 4


Understand
billing and insurance

Step 5

Schedule
genetic counseling


Reproductive Health

A comprehensive family planning test menu is available

Sequenom Laboratories is here for you throughout the process of understanding your genetic information.

We are the pioneer and innovation leader in family planning and prenatal testing. With the broadest suite of solutions addressing your needs from pre-conception planning to prenatal testing and invasive diagnostics, we deliver complete and accurate information when you need it.

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Support

Committed to you

We will assist you through every testing decision.

Let our knowledgeable and attentive Support team guide you through your testing decisions, answer questions about billing and insurance, and provide you with personalized, live assistance.

If your test indicates a positive result, our Genetic Counseling team is ready to explain the risk and answer your questions in terms you can easily understand. This in-depth, genetic counseling session with a board-certified genetic counselor is provided at no additional cost to you.

877.821.7266

CLIENTSERVICES@SEQUENOM.COM

OVERVIEW

HerediT® CF

Highly accurate carrier screen for clinically relevant cystic fibrosis mutations.

A direct answer about a common genetic disorder.

For couples considering having a child or those with a family history of cystic fibrosis, male infertility or for whom an ultrasound has indicated an increased risk for cystic fibrosis, the HerediT® Cystic Fibrosis Carrier Screening laboratory-developed test provides highly accurate results on clinically relevant mutations.



TEST DETAILS

HerediT® CF

Carrier screening test for cystic fibrosis.

Not all patients require or want universal carrier testing

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When there is a need for the simplicity of a single gene test for cystic fibrosis, rely on the HerediT® CF Carrier Screening.

  • Aligned with the world-renowned CFTR2 database
  • >90% of the mutations on the panel are disease-causing, unlike other cystic fibrosis mutation detection tests
  • Sequenom offers complimentary testing of partner when a carrier is identified

More than 10 million Americans are carriers of the CF genetic mutation from across all racial and ethnic groups. The American Congress of Obstetricians and Gynecologists (ACOG) Committee on Genetics recommends cystic fibrosis carrier screening for all patients who are planning a pregnancy or seeking prenatal care.1

The HerediT® Cystic Fibrosis Carrier Screen test is performed on a simple blood or buccal (cheek) swab sample and results are typically reported within one week.

HerediT CF detection rates

The performance characteristics of the HerediT CF test have been analytically validated using CFTR gene mutations shown to be phenotypically relevant.1,2,3

Ethnicity Detection rate Population risk Residual risk after a negative screen
Caucaisan 93% 1/25 1/344
Ashkenazi Jewish 95% 1/24 1/461
Hispanic 82% 1/58 1/318
African American 76% 1/61 1/251
Asian 55% 1/94 1/208

1: Clinical and functional translation of CFTR. US CF Foundation, Johns Hopkins University, The Hospital for Sick Children Web site. http://www.CFTR2.org. Accessed Oct 4, 2012.

2: Update on Carrier Screening for Cystic Fibrosis, ACOG Committee Opinion No. 486. Obstet Gynecol. 2011;117(4):1028-1031.

3: Paladino T, et al. Comprehensive Cystic Fibrosis Screening Panel for the Detection of Clinically Relevant Mutations. Poster session presented at: American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting; 2013 June 20-23; Phoenix, AZ.

The HerediT® Cystic Fibrosis Carrier Screen is a highly accurate, noninvasive test. However, false positive and false negative results may occur in rare cases. A negative result reduces your patient’s risk of being a CF carrier, but does not reduce the risk to zero. A positive result means your patient has one copy of a mutation that is known to cause CF.



How it Works

Give your patients the easiest path to peace of mind

Step 1


Explore
our genetic tests

Step 2


Talk
to your doctor

Step 3


Find
a blood draw location

Step 4


Understand
billing and insurance

Step 5

Schedule
genetic counseling


Reproductive Health

The most comprehensive family planning tests available

Sequenom Laboratories is here for you throughout the process of interpreting genetic information.

We are the pioneer and innovation leader in prenatal and family planning testing. With the broadest solution suite addressing your patient’s needs from pre-conception planning to noninvasive prenatal testing and invasive diagnostics, we deliver complete and accurate information.

PRE-CONCEPTION + PRENATAL CARRIER SCREENING
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NONINVASIVE PRENATAL TESTING
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PRENATAL DIAGNOSTIC TESTING
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Support

Committed to patients

We will assist you in interpreting your patients’ genetic information.

Sequenom Laboratories health care providers receive consistent, knowledgeable, and attentive support with live assistance from clinical, sales, billing, and laboratory personnel to address your needs quickly. In-house billing associates and highly efficient turnaround times allow for faster answers and greater patient satisfaction.

When needed, Sequenom Laboratories genetic counselors are available for your patients who test positive, at no additional cost. Counseling provides access to board-certified genetic counselors who are skilled at explaining genetic risks in terms patients can understand. Best of all, these genetic counseling sessions allow you to increase the excellence of care your patients receive.

877.821.7266

CLIENTSERVICES@SEQUENOM.COM

References

  1. Update on carrier screening for cystic fibrosis. ACOG Committee Opinion no. 486. American College of Obstetricians and Gynecologists. Obstet Gynecol. 2011;117(4):1028-1031.