Klinische FragestellungGerinnungsstörungen, Koagulopathien; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Gerinnungsstörungen, Koagulopathien mit 10 bzw. insgesamt 38 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
GP9630
Anzahl Gene
27
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
23,8 kb (Core-/Core-canditate-Gene)
61,9 kb (Erweitertes Panel: inkl. additional genes)
61,9 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
F10 | 1467 | NM_000504.4 | AR | |
F13A1 | 2199 | NM_000129.4 | AD, AR | |
F2 | 1869 | NM_000506.5 | AD, AR | |
GP1BA | 1959 | NM_000173.7 | AD, AR | |
GP1BB | 621 | NM_000407.5 | AR | |
GP9 | 534 | NM_000174.5 | AR | |
ITGA2B | 3120 | NM_000419.5 | AD, AR | |
ITGB3 | 2367 | NM_000212.3 | AD, AR | |
SERPINE1 | 1209 | NM_000602.5 | AD, AR | |
VWF | 8442 | NM_000552.5 | AD, AR | |
ANO6 | 2733 | NM_001025356.3 | AR | |
F13B | 1986 | NM_001994.3 | AR | |
F3 | 717 | NM_001178096.2 | AD, AR | |
F5 | 6675 | NM_000130.5 | AD, AR | |
F8 | 7056 | NM_000132.4 | XLR | |
F9 | 1386 | NM_000133.4 | XL | |
GP6 | 1863 | NM_001083899.2 | AR | |
HABP2 | 1605 | NM_001177660.3 | AD | |
HRG | 1578 | NM_000412.5 | AD | |
MTHFR | 1971 | NM_005957.5 | AD | |
PLAT | 1689 | NM_000930.5 | AD | |
PROC | 1386 | NM_000312.4 | AD, AR | |
PROCR | 717 | NM_006404.5 | AD, AR | |
PROS1 | 2031 | NM_000313.4 | AD, AR | |
SERPINC1 | 1395 | NM_000488.4 | AR, AD | |
SERPIND1 | 1500 | NM_000185.4 | AD | |
THBD | 1728 | NM_000361.3 | 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
- AR
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
D68.2-
Bioinformatik und klinische Interpretation
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