SINGLE-GENE CARRIER SCREENING

Dedicated genetic testing for cystic fibrosis

In addition to a comprehensive screening for more than 500 genetic disorders (Inheritest), we also offer screening for specific disorders, such as cystic fibrosis.

Cystic fibrosis is the most common life-threatening, autosomal recessive condition in the non-Hispanic white population. It affects about 1 in 2,500 individuals in the non-Hispanic white population and considerably less in other ethnic groups.1 CF leads to life threatening lung infections, digestive problems, diarrhea, poor growth and infertility.

Screening for Cystic Fibrosis

ACOG’s most recent recommendations state that carrier screening for CF “should be offered to all women who are considering pregnancy or are currently pregnant.”1

CFplus® screens for 97 clinically relevant mutations, selected based on frequency and pathogenicity in the literature, resulting in high detection rates for the pan-ethnic U.S. population.2

CF Carrier frequencies3

EthnicityCF carrier risk in people with no family history of CF
Caucasian1 in 25
African American1 in 61
Hispanic1 in 58
Ashkenazi Jewish1 in 24
Asian1 in 94

Enhanced insight for CF risk

As CF is a common hereditary disorder in the US, we offer an additional safeguard. If a patient screens positive for CF, we offer her partner full gene-specific sequencing, reporting all disease-causing variants and variants of uncertain significance.

Determine if the baby is affected

For pregnancies at risk, we also offer prenatal testing to determine whether the baby has the parental mutations, saving patients time and additional testing.

Sample requirement and turnaround time

The screening test requires a blood sample or mouthwash and results are typically ready within 5 to 8 days. If a couple has not yet conceived, one partner is usually tested first. If a woman is already pregnant, a couple may opt to be tested at the same time .

Additional Resources

References

  1. Carrier Screening for Genetic Conditions. ACOG Committee Opinion Number 691. March 2017
  2. Rohlfs, E, et al., Cystic Fibrosis Carrier Testing in an Ethnically Diverse US Population. Clinical Chemistry 2011; 57(6):841–848.
  3. Update on Carrier Screening for Cystic Fibrosis. ACOG Committee Opinion, Number 486, April 2011.