This test is designed to detect carriers of sickle cell anemia and beta thalassemia. Sickle cell disease is an autosomal recessive blood disorder caused by misshapen red blood cells which result in deficiency of functional red blood cells and blockages of blood flow. Symptoms of sickle cell disease include severe anemia, swelling of the hands and feet, splenic enlargement and infarction, increased risk of infection, acute pain crises, and multisystem organ damage.read more
By gene: HBB
Next Gen Sequencing & Del/Dup Analysis
Test Code: 6006
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Typically within 2 weeks from receipt of a sample in the laboratory.
1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
2. Genomic DNA: a minimum of 3 ug (at a concentration of at least 30 ng/ul)
Ship all specimen types at room temperature by overnight courier. Do no freeze.