Details
| Product Infomation | |
|---|---|
| Product Description: | Thalassemia is a hereditary hemolytic anemia. It is a defective gene (mutation or deletion of gene) of the red blood cell hemoglobin's pearlin gene, which leads to a change in the composition of hemoglobin and a decrease or inability to synthesize the pearlin chain. According to the different damaged of hemoglobin's pearlin chain, thalassemia is divided into 4 types: α, β, δβ and δ, among which β and α thalassemia are more common. Severe hemolysis and anemia occur if the α-hemoglobin chains or β-hemoglobin chains cannot be synthesized at all. Currently, effective clinical prevention of thalassemia requires blood sampling for peptide chain testing and genetic analysis, and routinely uses a step-by-step screening model of blood routine, hemoglobin electrophoresis and genetic testing, of which genetic testing is the gold Reference for diagnosing thalassemia. |
| Features: | Mutation type: Alpha point mutation. Mutant loci: Hb Quong Sze heterozygous, Hb Constant Spring (HbCS) heterozygous, Hb Westmead heterozygous. |
| Sample Type: | gDNA |
| Application: | •Assessing the efficiency of the detection process. •Evaluate the impact of background noise on variant detection. •Validate the robustness of the detection process. •Optimize and validate new detection panels and monitor process performance. •Detect the detection and quantification limits of the process. •Analyze the sensitivity, accuracy and specificity of the detection process. •Compare assay variation across platforms. |
| Storage: | Tris-EDTA (10mM Tris-HCl, 1mM EDTA), pH 8.0 |
| Method: | Sanger or GAP-PCR |
| Concentration: | 50 ng/μL |
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