Genetic Carrier Screening

Genetic carrier screening can provide a better understanding of the likelihood and potential impact of inherited genetic disorders. ACOG recommends that all individuals, regardless of race or ethnicity, be offered screening for the same set of conditions.¹ At Quest Diagnostics, we recognize that your patients have questions, and we can provide you with the answers.

CFvantage^® Cystic Fibrosis Expanded Screen

Cystic fibrosis (CF) is an inherited disorder that causes severe damage to the lungs, digestive system, and other organs in the body. The CFvantage^® Cystic Fibrosis Expanded Screen from Quest analyzes an expanded number of variants that have been proven to cause cystic fibrosis.⁴ This panel includes the 23 variants recommended by leading health organizations for screening of all women of childbearing age.^1,4 Test code 92068

• Guidelines recommend that patients with a personal or family history of CF be offered screening
• If your patient tests positive for 1 CF mutation, guidelines recommend performing a CF screen on the male partner⁴
• If he is also a CF carrier, the fetus has a 25% risk of being affected with CF. Guidelines recommend offering the couple genetic counseling and prenatal testing if both partners are CF carriers
• If your patient’s male partner’s result is negative, his residual risk to be a CF carrier is reduced, and the risk that the fetus is affected with CF is also reduced. The percent risk reduction is based on ethnicity, because the CF screen sensitivity varies by ethnic group

For patients suspected of having CF, additional genetic testing may be considered to determine whether a second rare mutation, not detected by the standard CF screen, is present.