English
Klinische FragestellungGerinnungsstörungen, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Gerinnungsstörungen mit 4 bzw. insgesamt 20 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
WP2938
Anzahl Gene
17
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
18,3 kb (Core-/Core-canditate-Gene)
44,1 kb (Erweitertes Panel: inkl. additional genes)
44,1 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| F8 | 7056 | NM_000132.4 | XLR | |
| F9 | 1386 | NM_000133.4 | XL | |
| SERPINC1 | 1395 | NM_000488.4 | AD, AR | |
| VWF | 8442 | NM_000552.5 | AD, AR | |
| F10 | 1467 | NM_000504.4 | AR | |
| F11 | 1878 | NM_000128.4 | AD, AR | |
| F12 | 1848 | NM_000505.4 | AD, AR | |
| F13A1 | 2199 | NM_000129.4 | AD, AR | |
| F2 | 1869 | NM_000506.5 | AD, AR | |
| F5 | 6675 | NM_000130.5 | AD, AR | |
| F7 | 1401 | NM_000131.4 | AR | |
| FGA | 1935 | NM_021871.4 | AD, AR | |
| FGB | 1299 | NM_001184741.1 | AR | |
| FGG | 1314 | NM_000509.6 | AR | |
| GP1BA | 1959 | NM_000173.7 | AD, AR | |
| LMAN1 | 1533 | NM_005570.4 | AR | |
| MCFD2 | 441 | NM_001171506.2 | 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
- AR
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
D68.00
Bioinformatik und klinische Interpretation
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