GLANZMANN THROMBASTENIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
850,00€
The Glanzmann Thrombasthenia Panel analyzes two genes involved in this autosomal recessive inherited bleeding disorder, caused by defects in the platelet integrin αIIbβ3 receptors, which are responsible for platelet aggregation. Clinically, it presents with epistaxis, gingival bleeding, menorrhagia, or prolonged bleeding after surgery. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the detection of mutations in the genes that encode the platelet receptor subunits. Some of the genes included in this panel are ITGA2B and ITGB3.
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