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)
61,9 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
F10 | 1467 | AR | |
F13A1 | 2199 | AD und/oder AR | |
F2 | 1869 | AD und/oder AR und/oder Mult | |
GP1BA | 1959 | AD und/oder AR | |
GP1BB | 621 | AR | |
GP9 | 534 | AR | |
ITGA2B | 3120 | AD und/oder AR | |
ITGB3 | 2367 | AD und/oder AR | |
SERPINE1 | 1209 | AD und/oder AR | |
VWF | 8442 | AD und/oder AR | |
ANO6 | 2733 | AR | |
F13B | 1986 | AR | |
F3 | 717 | AD und/oder AR | |
F5 | 6675 | AD und/oder AR und/oder Dig und/oder Mult | |
F8 | 7056 | XLR und/oder Sus | |
F9 | 1386 | XL | |
GP6 | 1863 | AR | |
HABP2 | 1605 | AD | |
HRG | 1578 | AD | |
MTHFR | 1971 | AD und/oder AR und/oder Ass | |
PLAT | 1689 | AD und/oder AR | |
PROC | 1386 | AD und/oder AR | |
PROCR | 717 | AD und/oder AR | |
PROS1 | 2031 | AD und/oder AR | |
SERPINC1 | 1395 | AD und/oder AR | |
SERPIND1 | 1500 | AD | |
THBD | 1728 | AD |
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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