Cystic Fibrosis Testing-

Q1. What is Cystic Fibrosis (CF)?
A1. Cystic Fibrosis, usually diagnosed in the first few years of life, is an inherited, life-long illness that is characterized by problems with the lungs and digestive tract of its sufferers.

Q2. What is the purpose of Cystic Fibrosis Carrier Screening?
A2. The purpose of CF carrier testing is to see if a couple is at increased risk for giving birth to a child who will have CF prior to conception through prenatal screening. The American Congress of Obstetricians and Gynecologists (ACOG) recommends carrier screening be offered to the following populations prior to conception or within the first or early second trimester of pregnancy:

• Individuals with a family history of CF
• Reproductive partners of individuals with CF
• Couples in whom one or both partners are Caucasian of Ashkenazi Jewish or European decent and are planning pregnancy or seeking prenatal care

Q3. Why do you need the patient’s ethnicity for Cystic Fibrosis Testing?
A3. The incidence and carrier risk for CF varies greatly based upon race or ethnicity. This information is required to complete the result interpretation process.

Q4. What is the clinical significance of the six 6 reflexed mutations? If the patient is positive for one of the 32 mutations they are a carrier, why do we do the reflexes?
A4. The American Congress of Obstetricians & Gynecologists (ACOG) recommends that testing offered include these six mutations.

Q5. Why does MDL require two swabs when collecting genetic tests?
A5. Two swabs are requested for all genetic based assays to ensure adequate amounts of human genomic DNA are obtained for analysis.