Molecular Genetics Thalassemia lab of The Cyprus Institute of Neurology and Genetics transforms testing with NGS

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Molecular Genetics Thalassemia lab of The Cyprus Institute of Neurology and Genetics transforms testing with NGS

Molecular Genetics Thalassaemia lab of The Cyprus Institute of Neurology and Genetics transforms testing with NGS Thalassemia prevention in Cyprus

Thalassemia is a serious health problem in Cyprus where 12 % of the population are carriers of beta-thalassemia and about 19% are carriers of alpha-thalassemia. Due to the high incidence of beta and the severity of the disease, the state has initiated a carrier screening program to prevent the spread and reduce suffering. The program includes premarital screening of the entire population. CING’s Molecular Genetics of Thalassemia Department is dedicated to the prevention of thalassemia and provides prenatal molecular diagnosis for β-thalassemia, α-thalassemia and other haemoglobinopathies as well as molecular diagnosis for carriers and patients

Thalassemia testing at CING

CING is part of the National Thalassemia prevention program where the genetic analysis and prenatal diagnosis is performed. The Thalassemia Screening Laboratory is responsible for identifying thalassemia carriers through hematological testing using capillary electrophoresis. Once the carriers are identified they are passed over to CING for third level testing through molecular genetic analysis of the samples.

Molecular testing for thalassemia usually involves a patchwork of methods to check for all possible variants,  which was also the case at CING. They made use of all the conventional molecular techniques such as PCR, real-time PCR,MLPA, Sanger sequencing and Mini sequencing.

Every population has a set of variants that are more prevalent than others and in Cyprus there are seven beta thalassemia pathogenic variants that make up about 99% of  all beta thalassemia cases. One of these variants is responsible for about 80%. CING’s strategy was to test at the beginning for the most common variants. If they didn’t find it, they moved on to test for a different variant. This process was repeated until a variant was found. Thus, they had to conduct a series of tests before they reached the final analysis. This procedure was implemented for beta thalassemia genetic analysis as well as for alpha thalassemia.