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Clinical Application

Beta thalassemia (β-thalassemia) is a kind of monogenic inheritance hemopathy due to expression imbalance of peptide chain caused by β-globin gene mutation, mostly caused by β-globin gene point mutations. The commonly seen mutation sites are CD41-42, IVS-II-654, -28, CD71/72, etc.

Intended Use

This kit is used for in vitro qualitative detection of β-thalassemia related β-globin gene point mutations in human whole blood sample, which can detect the commonly seen 23 kinds of mutations of β-globin gene: CD17 (AAG>TAG), CD14-15 (+G), -90 (C>T), Initiation codon (ATG>AGG), 5’UTR+43 to +40  (-AAAC),  -28  (A>G),  -29  (A>G),  -30  (T>C),  -32  (C>A),  -31  (A>C),  CD26  (GAG>AAG), CD27/28 (+C), IVS-I- 1 (G>T), IVS-I-5 (G>C), CD30 (AGG>GGG), IVS-I- (-3) (C>T), CD41-42 (- TTCT), CD43 (GAG>TAG), CD37(TGG>TAG), CD71-72 (+A), IVS-II-654 (C>T), IVS-II-5 (G＞C) and IVS-II-2(-T).

General Specification

Methodology: PCR-Melting Curve
Sample Type: anti-coagulation whole blood
Precision: CV <3%
LoD: 0.2 ng/μL

Packing Specifications

Demonstration of Results