IllnessCoagulation disorders, coagulopathies; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for coagulation disorders, coagulopathies comprising 10 and altogether 38 curated genes according to the clinical signs
ID
GP9630
Number of genes
27
Accredited laboratory test
Examined sequence length
23,8 kb (Core-/Core-canditate-Genes)
61,9 kb (Extended panel: incl. additional genes)
61,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
[Sanger]
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
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, AD | |
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, AD | |
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 |
Informations about the disease
Clinical Comment
Heterogenous group of disorders
Synonyms
- 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)
Heredity, heredity patterns etc.
- AD
- AR
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined