α-Thalassemia, DNA Analysis
Methodology: Polymerase chain reaction (PCR) and multiplex ligation-dependent probe amplification (MLPA)
This test is designed to detect copy-number changes in the α-globin gene cluster (deletions and duplications) of 28 different sequences in the HBA region. In addition, the assay detects the presence of the Constant Spring (Hb CS) mutation. Other point mutations, and variants in other genes, will not be detected by this assay. Molecular-based testing is highly accurate, but as in any laboratory test, rare diagnostic errors may occur.
Specimen: Whole blood, amniotic fluid, chorionic villus sample (CVS) (Submission of maternal blood is required for fetal testing.).
Volume: 3-7 mL whole blood, 5-10 mL amniotic fluid or 10-20 mg CVS.
Container: Lavender-top (EDTA) tube, yellow-top (ACD) tube, sterile plastic conical tube, or two confluent T-25 flasks for fetal testing.
Storage Instructions: Maintain specimen at room temperature or refrigerate at 4°C.
Specimen Rejection Criteria: Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab.
Turn Around Time (TAT): 9-14 days
CPT Codes: 81257
Results of this test are labeled for research purposes only by the assay’s manufacturer. The performance characteristics of this assay have not been established by the manufacturer. The result should not be used for treatment or for diagnostic purposes without confirmation of the diagnosis by another medically established diagnostic product or procedure. The performance characteristics were determined by Celltechgen Laboratory.