COAGULATION FACTOR DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 24 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Coagulation Factor Deficiency Panel analyzes 24 genes involved in inherited disorders affecting the coagulation cascade, which are responsible for spontaneous bleeding, deep bruising, or prolonged bleeding after surgical procedures. These deficiencies, which include hemophilia A and B, and deficiencies in factors V, VII, X, XI, XIII, and others, are due to mutations that alter the synthesis, structure, or function of plasma factors. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the simultaneous characterization of multiple congenital deficiencies. Some of the genes included in this panel are: F8, F9, F5, F7, F10, F11, F13A1, F13B, GGCX, VKORC1, VWF, PROC, PROS1, PLG, and SERPINC1, among others. You can obtain the complete list of genes by contacting Genotica.