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פאנלים

Inherited bleeding disorders

GC_79

Last update: 07.01.2026

Inherited bleeding disorders are a heterogeneous group of conditions affecting coagulation factors, platelet number or function, fibrinolysis, or vascular integrity. Clinical manifestations include easy bruising, mucosal bleeding, menorrhagia, prolonged bleeding following surgery or trauma, thrombocytopenia, or abnormal coagulation studies.

This panel includes genes associated with the major inherited bleeding disorders, including hemophilia, von Willebrand disease, rare coagulation factor deficiencies, inherited platelet disorders, fibrinolytic disorders, and vascular fragility syndromes. Representative genes include F8, F9, F11, VWF, FGA, FGB, FGG, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, RUNX1, ANKRD26, ETV6, NBEAL2, and MYH9.

This panel is recommended for patients with suspected hereditary bleeding disorders, particularly those with unexplained bleeding, abnormal coagulation studies, thrombocytopenia, platelet dysfunction, or a family history of bleeding disorders. It is appropriate when the specific underlying hemostatic defect is unclear.
ABCG5, ABCG8, ACTB, ACTN1, ACVRL1, ADAMTS13, ANKRD26, ANO6, AP3B1, AP3D1, ARPC1B, BLOC1S3, BLOC1S5, BLOC1S6, CALR, CD36, CD55, CDC42, CHST14, COL1A1, COL3A1, COL5A1, COL5A2, CYCS, DIAPH1, DTNBP1, EFL1, ENG, EPHB2, ETV6, F10, F11, F12, F13A1, F13B, F2, F2R, F5, F7, F8, F9, FERMT3, FGA, FGB, FGG, FLI1, FLNA, FYB1, GALE, GATA1, GBA, GFI1B, GGCX, GNE, GP1BA, GP1BB, GP6, GP9, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRG, IKZF5, ITGA2, ITGA2B, ITGB3, JAK2, KDSR, KLKB1, KNG1, LAT, LMAN1, LYST, MASTL, MCFD2, MECOM, MPIG6B, MPL, MRTFA, MYH9, NBEA, NBEAL2, ORAI1, P2RX1, P2RY12, PLA2G4A, PLAT, PLAU, PRKACG, PROC, PROS1, PTGS1, PTPN11, PTPRJ, RAP1B, RASGRP2, RBM8A, RGS2, RNU4ATAC, RUNX1, SERPINC1, SERPIND1, SERPINE1, SERPINF2, SLC35A1, SLC45A2, SLFN14, SMAD4, SRC, SRP54, STIM1, STXBP2, TBXA2R, TBXAS1, THBD, THPO, TNXB, TPM4, TRPM7, TUBB1, UNC13D, VIPAS39, VKORC1, VPS33B, VWF, WAS, WIPF1

ClinVar P/LP variants (IDs) not covered: ETV6:[4020046] | GNE:[4068787] | HPS1:[4077138] | LYST:[3602577] | SERPINC1:[1321917] | SLC45A2:[3238625] | SMAD4:[3445838]

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