Beta-thalassaemia

GBT

3 mL amniotic fluid or 20mg chorionic villi or 3mL EDTA blood or 2 buccal swabs

Sterile plastic conical tube or sterile plastic conical tube with transport medium or purple-top (EDTA) tube

DNA sequence analysis of beta-globin gene designed to detect the 21 most common mutations associated with beta-Thalassemia in the Chinese population

Nil

Nil

Frozen specimen; hemolysis; clotted blood specimen; quantity not sufficient for analysis

DNA sequence analysis of beta-globin gene designed to detect the 21 most common mutations associated with beta-Thalassemia in the Chinese population

DNA is extracted from sample and subjected to polymerase chain reaction (PCR) amplification. The amplified product is directly sequenced using fluorescent dye-labeled terminator chemistry. Genetic variants are detected by comparison with wild-type beta-globin gene sequence

This method does not reliably detect mosaic variants, large deletions, large duplications, inversions or deep intronic variants. It may be affected by allele-dropout

Specimen should be kept at room temperature

Nil