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GenetischePanel-Diagnostik

ErkrankungHämostase-Störungen, erblich

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Hämostase-Störungen (erblich) mit >100 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
BP4491
Anzahl Gene
101
Untersuchte Sequenzlänge
0,0 kb (Core-/Basis-Gene)
227,2 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ABCG51956AR
ABCG82022AR
ACTB1128AD
ACTN12745AD
ACVRL11512AD und/oder Mult
ADAMTS134284AR
ANKRD265133AD und/oder SMu
ANO62733AR
AP3B13138AR
AP3D13648AR
BLOC1S3609AR
BLOC1S6519AR
CDC42576AD
CHST141131AR
COL1A14395AD
COL5A15517AD
COL5A24500AD
CYCS318AD
DIAPH13819AD
DTNBP1813AR
ENG1878AD und/oder Mult
ETV61359Gen Fusion
F101467AR
F111878AD und/oder AR
F121848AD und/oder AR
F13A12199AD und/oder AR
F13B1986AR
F21869AD und/oder AR und/oder Mult
F56675AD und/oder AR und/oder Dig und/oder Mult
F71401AR
F87056XLR und/oder Sus
F91386XL
FERMT31992AR
FGA1935AD und/oder AR
FGB1299AR
FGG1314AR
FLI11359AD und/oder AR
FLNA7920XL
GATA11242XLR und/oder SMu
GBA1611AD und/oder AR und/oder Sus
GFI1B993AD und/oder AR
GGCX2277AR
GNE2262AD und/oder AR
GP1BA1959AD und/oder AR
GP1BB621AR
GP61863AR
GP9534AR
HOXA11942AD
HPS12103AR
HPS33015AR
HPS42127AR
HPS53048AR
HPS62328AR
HRG1578AD
ITGA2B3120AD und/oder AR
ITGB32367AD und/oder AR
KDSR999AR
KLKB11917AR
KNG11935AR
LMAN11533AR
LYST11406AR
MCFD2441AR
MECOM3351AD
MPL1908AD und/oder AR und/oder SMu
MYH95883AD
NBEA2220AD
NBEAL28265AR
ORAI1912AD und/oder AR
P2RY121029AR
PLA2G4A2250AR
PLAT1689AD und/oder AR
PLAU1245AD
PLG2433AR
PROC1386AD und/oder AR
PROS12031AD und/oder AR
PTPN111782AD und/oder SMu
PTPRJ1620SMu
RASGRP21830AR
RBM8A525AR
RNU4ATAC130AR
RUNX11443AD und/oder Gen Fusion
SERPINC11395AD und/oder AR
SERPIND11500AD
SERPINE11209AD und/oder AR
SERPINF21476AR
SLC35A1837AR
SLC45A21593AR und/oder Dig
SMAD41659AD und/oder SMu und/oder Sus
SRC1611AD
STIM12058AD und/oder AR
STXBP21773AR
TBXA2R1032AD
TBXAS11602AD und/oder AR
THBD1728AD
THPO1062AD
TUBB11356AD
VIPAS391482AR
VKORC1492AD
VPS33B1854AR
VWF8442AD und/oder AR
WAS1509XLR

Infos zur Erkrankung

Synonyme
  • Alias: Inherited bleeding + platelet disorders
  • Alias: Monogenic venous thrombosis, included
  • Allelic: Albinism, oculocutaneous, type IV (SLC45A2)
  • Allelic: Alzheimer disease, late-onset, susceptibility to (PLAU)
  • Allelic: Amyloidosis, familial visceral (FGA)
  • Allelic: Angioedema, hereditary, type III (F12)
  • Allelic: Bone mineral density variation QTL, osteoporosis (COL1A1)
  • Allelic: Colon cancer, advanced, somatic (SRC)
  • Allelic: Colon cancer, somatic (PTPRJ)
  • Allelic: Deafness, AD 17 (MYH9)
  • Allelic: Dystonia, juvenile-onset (ACTB)
  • Allelic: Gallbladder disease 4 (ABCG8)
  • Allelic: LEOPARD syndrome 1 (PTPN11)
  • Allelic: Leukemia, acute myeloid (RUNX1)
  • Allelic: Leukemia, acute myeloid, somatic (ETV6)
  • Allelic: Leukemia, megakaryoblastic, with/-out Down syndrome, somatic (GATA1)
  • Allelic: Lewy body dementia, susceptibility to (GBA)
  • Allelic: Lowry-Wood syndrome (RNU4ATAC)
  • Allelic: Metachondromatosis (PTPN11)
  • Allelic: Microcephalic osteodysplastic primordial dwarfism, type I (RNU4ATAC)
  • Allelic: Myhre syndrome (SMAD4)
  • Allelic: Myocardial infarction, decreased susceptibility to (F7)
  • Allelic: Myocardial infarction, protection against (F13A1)
  • Allelic: Myocardial infarction, susceptibility to (ITGB3)
  • Allelic: Myopathy, tubular aggregate, 1 (STIM1)
  • Allelic: Myopathy, tubular aggregate, 2 (ORAI1)
  • Allelic: Neurodevelopmental disorder with/-out early-onset generalized epilepsy (NBEA)
  • Allelic: Neutropenia, severe congenital, XL (WAS)
  • Allelic: Nonaka myopathy (GNE)
  • Allelic: Osteogenesis imperfecta, type I-IV
  • Allelic: Pancreatic cancer, somatic (SMAD4)
  • Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
  • Allelic: Polyposis, juvenile intestinal (SMAD4)
  • Allelic: Pregnancy loss, recurrent, susceptibility to, 1 (F5)
  • Allelic: Pregnancy loss, recurrent, susceptibility to, 2 (F2)
  • Allelic: Roifman syndrome (RNU4ATAC)
  • Allelic: Seizures, cortical blindness, microcephaly syndrome (DIAPH1)
  • Allelic: Skin/hair/eye pigment. 5, black/nonblack hair; dark/fair skin; dark/light eyes (SLC45A2)
  • Allelic: Transcription of plasminogen activator inhibitor, modulator of (SERPINE1)
  • Afibrinogenemia, congenital (FGA, FGB, FGG)
  • Alpha-2-plasmin inhibitor deficiency (SERPINF1)
  • Alpha-2-plasmin inhibitor deficiency (SERPINF2)
  • Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
  • Arthrogryposis, renal dysfunction, and cholestasis 1 (VPS33B)
  • Arthrogryposis, renal dysfunction, cholestasis 2 (VIPAS39)
  • Baraitser-Winter syndrome 1 (ACTB)
  • Bernard-Soulier syndrome, type A1 (recessive] (GP1BA)
  • Bernard-Soulier syndrome, type A2 [dominant] (GP1BA)
  • Bernard-Soulier syndrome, type B (GP1BB)
  • Bernard-Soulier syndrome, type C (GP9)
  • Bleeding disorder, platelet-type, 11 (GP6)
  • Bleeding disorder, platelet-type, 13, susceptibility to (TBXA2R)
  • Bleeding disorder, platelet-type, 15 (ACTN1)
  • Bleeding disorder, platelet-type, 16, AD (ITGA2B)
  • Bleeding disorder, platelet-type, 16, AD (ITGB3)
  • Bleeding disorder, platelet-type, 17 (GFI1B)
  • Bleeding disorder, platelet-type, 18 (RASGRP2)
  • Bleeding disorder, platelet-type, 21 (FLI1)
  • Bleeding disorder, platelet-type, 8 (P2RY12)
  • Budd-Chiari syndrome (F5)
  • Caffey disease (COL1A1)
  • Chediak-Higashi syndrome )LYST)
  • Combined factor V + VIII deficiency (LMAN1)
  • Combined osteogenesis imperfecta + Ehlers-Danlos syndrome 1 (COL1A1)
  • Congenital disorder of glycosylation, type IIf (SLC35A1)
  • Deafness, AD 1, with/-out thrombocytopenia (DIAPH1)
  • Deep venous thrombosis, protection against (F9)
  • Dysfibrinogenemia, congenital (FGA, FGB, FGG)
  • Dysplasminogenemia (PLG)
  • Dysprothrombinemia (F2)
  • Ehlers-Danlos syndrome, arthrochalasia type, 1 (COL1A1)
  • Ehlers-Danlos syndrome, classic type, 1 (COL5A1)
  • Ehlers-Danlos syndrome, classic type, 2 (COL5A2)
  • Ehlers-Danlos syndrome, musculocontractural type 1 (CHST14)
  • Erythrokeratodermia variabilis et progressiva 4 (KDSR)
  • Factor V + factor VIII, combined deficiency of (MCFD2)
  • Factor V deficiency (F5)
  • Factor VII deficiency (F7)
  • Factor X deficiency (F10)
  • Factor XI deficiency, AD + AR (F11)
  • Factor XII deficiency (F12)
  • Factor XIIIA deficiency (F13A1)
  • Factor XIIIB deficiency (F13B)
  • Fletcher factor (prekallikrein) deficiency (KLKB1)
  • Gastrointestinal ulceration, recurrent, with dysfunctional platelets (PLA2G4A)
  • Gaucher disease, perinatal lethal (GBA)
  • Gaucher disease, type I-III, IIIC (GBA)
  • Ghosal hematodiaphyseal syndrome (TBXAS1)
  • Giant platelet disorder, isolated (GP1BB)
  • Glanzmann thrombasthenia (ITGA2B)
  • Glanzmann thrombasthenia (ITGB3)
  • Gray platelet syndrome (NBEAL2)
  • Hemolytic uremic syndrome, atypical, susceptibility to, 6 (THBD)
  • Hemophagocytic lymphohistiocytosis, familial, 5 (STXBP2)
  • Hemophilia A (F8)
  • Hemophilia B (F9)
  • Hermansky-Pudlak syndrome 1 (HPS1)
  • Hermansky-Pudlak syndrome 10 (AP3D1)
  • Hermansky-Pudlak syndrome 2 (AP3B1)
  • Hermansky-Pudlak syndrome 3 (HPS3)
  • Hermansky-Pudlak syndrome 6 (HPS6)
  • Hermansky-Pudlak syndrome 7 (DTNBP1)
  • Hermansky-Pudlak syndrome 8 (BLOC1S3)
  • Hermansky-Pudlak syndrome 9 (BLOC1S6)
  • High molecular weight kininogen deficiency (KNG1)
  • Hyperfibrinolysis, familial, due to increased release of PLAT (PLAT)
  • Hypodysfibrinogenemia, congenital (FGA)
  • Hypofibrinogenemia, congenital (FGB, FGG)
  • Hypoprothrombinemia (F2)
  • Immunodeficiency 10 (STIM1)
  • Immunodeficiency 9 (ORAI1)
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
  • Kininogen deficiency (KNG1)
  • Leukemia, juvenile myelomonocytic, somatic (PTPN11)
  • Leukocyte adhesion deficiency, type III (FERMT3)
  • Macrothrombocytopenia, AD, TUBB1-related (TUBB1)
  • Macrothrombocytopenia, granulocyte inclusions with/-out nephritis/sensorin. hearing loss (MYH9)
  • Myelofibrosis with myeloid metaplasia, somatic (MPL)
  • Nonarteritic anterior ischemic optic neuropathy, susceptibility to (GP1BA)
  • Noonan syndrome 1 (PTPN11)
  • Plasminogen activator inhibitor-1 deficiency (SERPINE1)
  • Plasminogen deficiency, type I (PLG)
  • Platelet disorder, familial, with associated myeloid malignancy (RUNX1)
  • Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (GGCX)
  • Purpura, posttransfusion (ITGB3)
  • Quebec platelet disorder (PLAU)
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 (HOXA11)
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (MECOM)
  • Scott syndrome (ANO6)
  • Sialuria (GNE)
  • Sitosterolemia 1 (ABCG8)
  • Sitosterolemia 2 (ABCG5)
  • Stormorken syndrome (STIM1)
  • Stroke, ischemic, susceptibility to (F2)
  • Stroke, ischemic, susceptibility to (F5)
  • Takenouchi-Kosaki syndrome (CDC42)
  • Telangiectasia, hereditary hemorrhagic, type 1 (ENG)
  • Telangiectasia, hereditary hemorrhagic, type 2 (ACVRL1)
  • Thrombocythemia 1 (THPO)
  • Thrombocythemia 2 (MPL)
  • Thrombocytopenia 2 (ANKRD26)
  • Thrombocytopenia 4 (CYCS)
  • Thrombocytopenia 5 (ETV6)
  • Thrombocytopenia 6 (SRC)
  • Thrombocytopenia with beta-thalassemia, XL (GATA1)
  • Thrombocytopenia, XL (WAS)
  • Thrombocytopenia, XL, intermittent (WAS)
  • Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
  • Thrombocytopenia, congenital amegakaryocytic (MPL)
  • Thrombocytopenia, neonatal alloimmune (ITGB3)
  • Thrombocytopenia, neonatal alloimmune, BAK antigen related (ITGA2B)
  • Thrombocytopenia-absent radius syndrome (RBM8A)
  • Thrombophilia due to HRG deficiency (HRG)
  • Thrombophilia due to activated protein C resistance (F5)
  • 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 (PROS1)
  • Thrombophilia due to protein S deficiency, AR (PROS1)
  • Thrombophilia due to thrombin defect (F2)
  • Thrombophilia due to thrombomodulin defect (THBD)
  • Thrombophilia, XL, due to factor IX defect (F9)
  • Thrombophilia, familial, due to decreased release of PLAT (PLAT)
  • Thrombophilia, susceptibility to, due to factor V Leiden (F5)
  • Thrombotic thrombocytopenic purpura, hereditary (ADAMTS13)
  • Venous thrombosis, protection against (F13A1)
  • Vitamin K-dependent clotting factors, combined deficiency of, 1 (GGCX)
  • Vitamin K-dependent clotting factors, combined deficiency of, 2 (VKORC1)
  • Warfarin resistance (VKORC1)
  • Warfarin sensitivity (F9)
  • Wiskott-Aldrich syndrome (WAS)
  • von Willebrand disease, platelet-type (GP1BA)
  • von Willebrand disease, types 1, 2A, 2B, 2M, 2N, 3
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig und/oder Mult
  • AD und/oder AR und/oder Mult
  • AD und/oder AR und/oder SMu
  • AD und/oder AR und/oder Sus
  • AD und/oder Gen Fusion
  • AD und/oder Mult
  • AD und/oder SMu
  • AD und/oder SMu und/oder Sus
  • AR
  • AR und/oder Dig
  • Gen Fusion
  • SMu
  • XL
  • XLR
  • XLR und/oder SMu
  • XLR und/oder Sus
OMIM-Ps
  • Keine OMIM-Ps verknüpft
ICD10 Code
D68.8

Bioinformatik und klinische Interpretation

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