The most accurate test for the widest patient population

  • Accurate: Next-gen sequencing screen with 149 disease-causing mutations for superior detection across a diverse patient population, with the option to increase the panel to 600 mutations for greater coverage of rare mutations
  • Flexible: Blood, buccal swab, or mouthwash specimens accepted
  • Affordable: With patient-friendly billing and Progenity's Peace of Mind program

About Cystic Fibrosis

Cystic fibrosis (CF) is the most common life-threatening genetic disease in North America. There are 10 million symptomless carriers of this chronic disease. CF patients have an average lifespan of 37 years.

Cystic fibrosis is a progressive, multisystem disease that primarily affects the pulmonary, pancreatic, and gastrointestinal systems, but does not affect intelligence. The current average lifespan is approximately 37 years, with respiratory failure as the most common cause of death. More than 95% of males with CF have congenital bilateral absence of the vas deferens (CBAVD), leading to infertility.

CF is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF is an autosomal recessive disorder. When both parents are carriers, there is a 1 in 4, or 25%, chance the pregnancy will be affected.

Superior Detection Rates Across All Ethnic Groups

The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) recommends that all women of reproductive age should be offered CF carrier screening, regardless of race or ethnicity. “It is becoming increasingly difficult to assign a single ethnicity to individuals. It is reasonable, therefore, to offer CF carrier screening to all patients.”1 CFnxt has been carefully designed to provide the most accurate results across a diverse patient population.

Table: Detection Rate Comparison

Reduced Residual Risk Across All Ethnic Groups

A negative screening test result reduces, but does not eliminate, the chance of being a CF carrier and having affected offspring. A patient who receives a negative test result still has a residual risk of being a carrier. Residual risk is reduced with the CFnxt test compared to other available tests. Table: Residual Risk Comparison

Screening Guidelines

All women of childbearing age should be offered screening for CF, regardless of race or ethnicity.1

The trend toward preconception carrier screening

For couples who are carriers of a genetic disorder, learning about their carrier status during a pregnancy is less than ideal. Women who are aware of their carrier status prior to conception have additional reproductive options for preventing the genetic disease.

According to ACOG, “preconception carrier screening allows couples to consider the most complete range of reproductive options. Knowledge of the risk of having an affected child may influence a couple’s decision to conceive or to consider preimplantation genetic diagnosis, prenatal genetic testing, or the use of donor gametes.”1

Offering carrier screening during the annual wellness visit allows patients to make informed reproductive choices.

References
1. Update on carrier screening for cystic fibrosis. Committee Opinion No. 486. American College of Obstetricians and Gynecologists. ObstetGynecol 2011;117:1028–31.
2. www.sequenom.com
3. Competitor data
4. www.integratedgenetics.com
5. Competitor data
6. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Standards and Guidelines for Clinical Genetics Laboratories. American College of Medical Genetics and Genomics. 2007 Genet Med 8:10:294-300.
* Cystic fibrosis and congenital absence of the vas deferens.
** The 600-mutation assay includes rare but clinically relevant mutations. Detection rates and residual risks calculations for this assay are consistent with the CFnxt assay comprised of 149 mutations.