Cystic fibrosis (CF) occurs at increased frequency in Caucasians and individuals of Ashkenazi Jewish descent, but can occur in any ethnic group. It is a disorder of mucus production, primarily affecting the pulmonary, gastrointestinal and reproductive systems. Although there is some variability of clinical expression, most individuals with CF require lifelong medical care and experience reduced life expectancy.
The American College of Obstetricians and Gynecologists recommends that because it is becoming increasingly difficult to assign a single ethnicity it is reasonable to offer CF carrier screening to all pregnant patients, provided that women are aware of carrier risks and of test limitations. If both parents are found to be carriers, prenatal diagnosis by CVS or amniocentesis is available. Indications for CF testing include: all pregnant and preconception couples, individuals with a history of CF, symptomatic or screen-positive infants too young for sweat testing; symptomatic children with negative or equivocal sweat tests; congenital bilateral absence of the vas deferens (CBAVD); and idiopathic pancreatitis. CFplus® tests for 97 mutations.
The mutations and their legacy names are listed here.
- ACD-A (yellow-top) or EDTA (lavender-top) tube.
- Adult: 10 ml whole blood; 30 ml whole blood if ordering multiple tests.
- Dried Blood Spot:
- Dried blood spots collected on Integrated Genetics provided filter paper/test requisition.
- Fill a minimum of three circles completely with blood. Please Note: If prenatal carrier screening for cystic fibrosis is ordered in conjunction with first trimester screening all six circles should be filled.
- Please Note: Patient should not eat, drink, smoke or chew gum for at least one hour prior to collection. (See specimen kit for detailed instructions). Mouthwash samples can be sent when ordering up to two tests. When ordering more than two tests, blood samples are required.
- 10 ml of Scope® mouthwash that has been swished vigorously for at least 1 minute.
- Collect in orange-top 50 ml polypropylene tube.
- Please Note: Call a laboratory genetic coordinator prior to obtaining any specimens. In some circumstances, specimens from other family members may be required.
- All prenatal specimens (including cord blood) must be accompanied by a maternal blood or mouthwash specimen for analysis of possible maternal cell contamination.
- Discard first 2 ml; then 15 ml amniotic fluid in 15 ml orange-top polypropylene tube, 10-15 mg chorionic villi in laboratory-provided screw-top tubes with sterile transport medium or 1 T-25 flask of confluent cells.
- Additional sample must be obtained for back-up culture at one of our cytogenetics laboratories or another facility.
If additional testing is desired, more amniotic fluid is needed. For example, chromosome analysis requires an additional 15-25 ml (see Cytogenetics – Amniotic Fluid Chromosome Analysis test page) and AFAFP requires an additional 2 ml (see Amniotic Fluid Alpha-Fetoprotein - AFAFP test page).
- Turnaround Time:
5-8days (when cell culture is required, add ~2 weeks)
Client Services: Reproductive Genetics 800-848-4436
Specimen Services/Pickup: 877-246-1226
Scope® is a registered trademark of The Procter & Gamble Company.