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Sickle Cell Anemia Mutation Analysis (Fetal)

CPT:

81401

Sickle cell anemia is an autosomal recessive disorder that causes severe anemia. Prenatal carrier testing and diagnostic testing for symptomatic individuals are performed using hemoglobin electrophoresis. Molecular testing is available for prenatal testing for at-risk pregnancies (i.e., both parents known to be carriers).

 

Test Details

Use

DNA analysis to detect mutations known to cause sickle cell anemia

Synonyms

Sickle Cell Anemia, Prenatal;

Methodology

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.

Pregnancy Week

0–13 Weeks
14–21 Weeks
22+ Weeks

Specimen Requirements

Specimen

Amniotic fluid, chorionic villi

Volume

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.  

Container

Lavender-top (EDTA) tube or yellow-top (ACD-A) tube

Special Instructions

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). 

Causes for Rejection

Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; unlabeled or mislabeled specimen

Storage Instructions

Maintain specimen at room temperature.

Additional Information

Limitations

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.

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