ITGA2B & ITGB3 SegCheck™ Kit v1.2

Glanzman syndrome diagnostic kit

Glanzmann’s disease is a blood coagulation disorder that is passed from parents to children by defective genes. In this disorder, blood platelets do not have the ability to accumulate around the damaged vessels to stop bleeding. The main cause of this disease can be seen as the lack of a glycoprotein called llb/llla present on the surface of platelets.

The ITGA2B & ITGB3 SegCheck™ kit v1.2 has helped to diagnose Glanzmann thrombasthenia in cases of consanguineous marriages and also has the ability to screen for early aneuploidy in chromosomes 13, 18, 21, X and Y in a short period of time. This kit is based on 14 markers, including 5 STR markers with high heterozygosity upstream and downstream of ITGA2B & ITGB3 genes, and 7 markers for early screening of common chromosomal disorders based on (QF-PCR) and an amylogenin marker (AMXY) and it is an X-STR marker. The simultaneous analysis of these markers and the examination of the obtained haplotypes are used as a valuable auxiliary tool in prenatal diagnosis and determining the transmission of Glanzmann’s thromboasthenia gravis disease and the screening of common aneuploidies.