COAGULOPATHIES AND HEMORRHAGIC DISORDERS: CLINICAL EXOME PANEL (Sec. & CNVs) – 133 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Coagulopathies and Bleeding Disorders panel analyzes 133 genes associated with congenital defects affecting the various phases of primary and secondary hemostasis. These alterations include coagulation factor deficiencies, hereditary thrombocytopathies, vascular collagen dysfunctions, and fibrinolytic system abnormalities. Clinically, they can manifest as epistaxis, hematomas, mucocutaneous bleeding, menorrhagia, or prolonged postoperative bleeding. Using next-generation sequencing (NGS) with simultaneous detection of SNVs, indels, and CNVs, the panel identifies genetic variants that alter platelet plug formation or fibrin generation. Some of the genes included in this panel are: VWF, F8, F9, F5, F7, FGA, FGB, GP1BA, GP1BB, ITGA2B, ITGB3, ADAMTS13, SERPINC1, PLG, and VKORC1, among others. You can consult the complete list of genes by contacting Genotica.
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