Sickle Cell Anemia Mutation Analysis
Methodology: DNA is isolated and the targeted region of the HBB gene amplified by the polymerase chain reaction (PCR). HbS or HbC mutations are identified by direct DNA sequencing using capillary gel electrophoresis and fluorescence detetion. False positive or 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.
Test Description
DNA analysis to detect mutations known to cause sickle cell anemia
Specimen Requirements
Specimen: Amniotic fluid or chorionic villus sample (CVS)
Volume: 10-12 mL amniotic fluid or 10-20 mg CVS and 5 mL blood sample
Container: Sterile plastic conical tube or two confluent T-25 flasks and lavender-top (EDTA) tube, Do not use urine container, syringes, or tubes with rubber-stoppers. Rubber is toxic to amniocytes.
Storage Instructions: Room temperature
Specimen Rejection Criteria: Specimen frozen; specimen found not to be amniotic fluid; quantity not sufficient for analysis; improper container
Turn Around Time (TAT): 8-14 days
CPT Codes: 81361
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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