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ErkrankungGerinnungsstörungen, Koagulopathien; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Gerinnungsstörungen, Koagulopathien mit 10 bzw. 26 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
GP9630
Anzahl Gene
27 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
23,8 kb (Core-/Basis-Gene)
61,9 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
F101467AR
F13A12199AD und/oder AR
F21869AD und/oder AR und/oder Mult
GP1BA1959AD und/oder AR
GP1BB621AR
GP9534AR
ITGA2B3120AD und/oder AR
ITGB32367AD und/oder AR
SERPINE11209AD und/oder AR
VWF8442AD und/oder AR
ANO62733AR
F13B1986AR
F3717AD und/oder AR
F56675AD und/oder AR und/oder Dig und/oder Mult
F87056XLR und/oder Sus
F91386XL
GP61863AR
HABP21605AD
HRG1578AD
MTHFR1971AD und/oder AR und/oder Ass
PLAT1689AD und/oder AR
PROC1386AD und/oder AR
PROCR717AD und/oder AR
PROS12031AD und/oder AR
SERPINC11395AD und/oder AR
SERPIND11500AD
THBD1728AD

Infos zur Erkrankung

Klinischer Kommentar

Heterogene Gruppe von Erkrankungen

 

Synonyme
  • Alias: Blutgerinnungsstörung, genetisch bedingte, seltene
  • Alias: Coagulopathies; Rare hemorrhagic disorders
  • Allelic: Amyloidosis, familial visceral (FGA)
  • Allelic: Angioedema, hereditary, 3 (F12)
  • Allelic: Budd-Chiari syndrome (F5)
  • Allelic: Deep venous thrombosis, protection against (F9)
  • Allelic: Myocardial infarction, decreased susceptibility to (F7)
  • Allelic: Myocardial infarction, protection against (F13A1)
  • Allelic: Myocardial infarction, susceptibility to (ITGB3)
  • Allelic: Neural tube defects, susceptibility to (MTHFR)
  • Allelic: Nonarteritic anterior ischemic optic neuropathy, susceptibility to (GP1BA)
  • Allelic: Pregnancy loss, recurrent, susceptibility to, 1 (F5)
  • Allelic: Pregnancy loss, recurrent, susceptibility to, 2 (F2)
  • Allelic: Schizophrenia, susceptibility to (MTHFR)
  • Allelic: Stroke, ischemic, susceptibility to (F2)
  • Allelic: Stroke, ischemic, susceptibility to (F5)
  • Allelic: Thrombocytopenia, neonatal alloimmune (ITGB3)
  • Allelic: Thrombocytopenia, neonatal alloimmune, BAK antigen related (ITGA2B)
  • Allelic: Thrombophilia due to activated protein C resistance (F5)
  • Allelic: Thrombophilia due to thrombin defect (F2)
  • Allelic: Thrombophilia, susceptibility to, due to factor V Leiden (F5)
  • Allelic: Thyroid cancer, nonmedullary, 5 (HABP2)
  • Allelic: Vascular disease, susceptibility to (MTHFR)
  • Allelic: Venous thrombosis, protection against (F13A1)
  • Allelic: Warfarin sensitivity (F9)
  • Allelic: von Willebrand disease, platelet-type (GP1BA)
  • Afibrinogenemia, congenital (FGA, FGB, FGG)
  • Allelic: Hemolytic uremic syndrome, atypical, susceptibility to, 6 (THBD)
  • Bernard-Soulier syndrome, type A1, AR (GP1BA)
  • Bernard-Soulier syndrome, type A2, AD (GP1BA)
  • Bernard-Soulier syndrome, type B (GPBB)
  • Bernard-Soulier syndrome, type C (GP9)
  • Bernard-Soulier syndrome; von Willebrand disease, platelet-type (GP1BA)
  • Bleeding diathesis due to glycoprotein VI deficiency [panelapp] (GP6)
  • Bleeding disorder, platelet-type, 11 (GP6)
  • Bleeding disorder, platelet-type, 24, AD (ITGB3)
  • Coagulation defect [Lit.] (F3)
  • Combined factor V + VIII deficiency (LMAN1)
  • Dysfibrinogenemia, congenital (FGA, FGB, FGG)
  • Dysprothrombinemia (F2)
  • Factor V + factor VIII, combined deficiency of (MCFD2)
  • Factor V deficiency (F5)
  • Factor VII deficiency (F7)
  • Factor X deficiency (F10)
  • Factor XI deficiency, AD (F11)
  • Factor XI deficiency, AR (F11)
  • Factor XII deficiency (F12)
  • Factor XIII deficiency (F13A1)
  • Factor XIIIA deficiency (F13A1)
  • Factor XIIIB deficiency (F13B)
  • Fletcher factor - prekallikrein - deficiency (KLKB1)
  • Giant platelet disorder, isolated (GPBB)
  • Glanzmann thrombasthenia 2 (ITGB3)
  • Glanzmann thrombasthenia; Bleeding disorder, platelet-type, 16, AD (ITGA2B, ITGB3)
  • Hemophilia A (F8)
  • Hemophilia B (F9)
  • Homocystinuria due to MTHFR deficiency (MTHFR)
  • Hyperfibrinolysis, familial, due to increased release of PLAT (PLAT)
  • Hypodysfibrinogenemia (FGA)
  • Hypodysfibrinogenemia, congenital (FGA, FGG)
  • Hypofibrinogenemia, congenital (FGB)
  • Hypoprothrombinemia (F2)
  • Plasminogen activator inhibitor-1 deficiency (SERPINE1)
  • Pseudo von Willebrand disease; VWD, platelet type (GP1BA)
  • Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (GGCX)
  • Purpura, posttransfusion (ITGB3)
  • Scott syndrome (ANO6)
  • Thromboembolism, susceptibility to (MTHFR)
  • Thrombophilia [panelapp] (PROCR)
  • Thrombophilia due to HRG deficiency (HRG)
  • Thrombophilia due to antithrombin III deficiency (SERPINC1)
  • Thrombophilia due to heparin cofactor II deficiency (SERPIND1)
  • Thrombophilia due to protein C deficiency, AD (PROC)
  • Thrombophilia due to protein C deficiency, AR (PROC)
  • Thrombophilia due to protein S deficiency, AD + AR (PROS1)
  • Thrombophilia due to thrombomodulin defect (THBD)
  • Thrombophilia, XL, due to factor IX defect (F9)
  • Thrombophilia, familial, due to decreased release of PLAT (PLAT)
  • Venous thromboembolism, susceptibility to (HABP2)
  • Vitamin K-dependent clotting factors, combined deficiency of, 1 (GGCX)
  • von Willebrand disease, types 1, 2A, 2B, 2M, 2N, 3 (VWF)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Ass
  • AD und/oder AR und/oder Dig und/oder Mult
  • AD und/oder AR und/oder Mult
  • AR
  • XL
  • XLR und/oder Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
D68.2-

Bioinformatik und klinische Interpretation

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