Sickle Cell Anemia, Prenatal;
This test is for fetal/prenatal cases and parental controls. It is not intended for routine sickle cell screening. Please call 800-345-4363 with any questions regarding selection of tests.
Prenatal testing: Integrated Genetics clients should call 800-848-4436 to speak to a laboratory genetic coordinator before collecting 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 10 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 one 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).
Amniotic fluid, chorionic villi
Parental samples: 10 mL whole blood / Prenatal: 10 mL amniotic fluid in orange-top polypropylene tube, 10-15 mg chorionic villi in laboratory provided screw-top tubes with sterile transport medium or one T-25 flask of confluent cells.
Lavender-top (EDTA) tube or yellow-top (ACD-A) tube
Maintain specimen at room temperature.
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; unlabeled or mislabeled specimen
DNA analysis to detect mutations known to cause sickle cell anemia
False-positive and false-negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, erroneous representation of family relationships, or contamination of a fetal sample with maternal cells.
A targeted region of the HBB gene is amplified by the polymerase chain reaction (PCR). HbS or HbC mutations are identified by targeted, direct DNA sequencing.