Alpha-thalassaemia

GAT

3 mL amniotic fluid or 20 mg chorionic villi or 3 mL EDTA blood

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

Nil

Nil

Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container

Multiplex PCR analysis of alpha-globin gene locus designed to detect the 3 most common deletion alleles which have been found in more than 96% of alleles associated with alpha-thalassemia in Hong Kong population

DNA is extracted and purified from sample and is subjected to multiplex polymerase chain reaction (PCR) amplification. The amplified products are analyzed by agarose gel electrophoresis

This test will not detect point mutations in alpha-globin gene and errors in RNA transcript processing unrelated to DNA exon sequence

Specimen should be kept at room temperature

Nil