ErkrankungGerinnungsstörungen, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Gerinnungsstörungen mit 4 bzw. 17 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
WP2938
Anzahl Gene
17
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
18,3 kb (Core-/Basis-Gene)
44,1 kb (Erweitertes Panel)
44,1 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
F8 | 7056 | XLR und/oder Sus | |
F9 | 1386 | XL | |
SERPINC1 | 1395 | AD und/oder AR | |
VWF | 8442 | AD und/oder AR | |
F10 | 1467 | AR | |
F11 | 1878 | AD und/oder AR | |
F12 | 1848 | AD und/oder AR | |
F13A1 | 2199 | AD und/oder AR | |
F2 | 1869 | AD und/oder AR und/oder Mult | |
F5 | 6675 | AD und/oder AR und/oder Dig und/oder Mult | |
F7 | 1401 | AR | |
FGA | 1935 | AD und/oder AR | |
FGB | 1299 | AR | |
FGG | 1314 | AR | |
GP1BA | 1959 | AD und/oder AR | |
LMAN1 | 1533 | AR | |
MCFD2 | 441 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Heterogene Gruppe von Erkrankungen
Synonyme
- Alias: Blutgerinnungsstörung, genetisch bedingte, seltene
- 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: 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: Stroke, ischemic, susceptibility to (F2)
- Allelic: Stroke, ischemic, susceptibility to (F5)
- 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: Venous thrombosis, protection against (F13A1)
- Allelic: Warfarin sensitivity (F9)
- Allelic: von Willebrand disease, platelet-type (GP1BA)
- Afibrinogenemia, congenital (FGA, FGB, FGG)
- Bernard-Soulier syndrome, type A1, AR (GP1BA)
- Bernard-Soulier syndrome, type A2, AD (GP1BA)
- Bleeding diathesis due to glycoprotein VI deficiency [panelapp] (GP6)
- Bleeding disorder, platelet-type, 11 (GP6)
- 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 XIIIA deficiency (F13A1)
- Fletcher factor - prekallikrein - deficiency (KLKB1)
- Hemophilia A (F8)
- Hemophilia B (F9)
- Hypodysfibrinogenemia (FGA)
- Hypodysfibrinogenemia, congenital (FGA, FGG)
- Hypofibrinogenemia, congenital (FGB)
- Hypoprothrombinemia (F2)
- Pseudo von Willebrand disease; VWD, platelet type (GP1BA)
- Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (GGCX)
- Thrombophilia due to antithrombin III deficiency (SERPINC1)
- Thrombophilia, X-linked, due to factor IX defect (F9)
- 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 und/oder AR
- 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
D68.00
Bioinformatik und klinische Interpretation
Kein Text hinterlegt