qGenEx TH. Panel Trastornos Hematológicos y trombóticos

Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.

qGenEx TH analiza 132 genes asociados a trastornos hemostáticos y trombóticos usando secuenciación de exoma completo mediante NGS.

Utiliza el buscador para encontrar el grupo de genes relacionados con la patología que te interesa incluidos en el panel:
GeneMedian coverage% covered > 10x% covered > 20xAssociated Phenotype description and OMIM disease ID 
A2M136.80.990.99Alpha-2-macroglobulin deficiency,614036
A2M136.80.990.99{Alzheimer disease, susceptibility to},104300
ABCG5147.90.990.98Sitosterolemia,210250
ABCG8166.10.990.95Sitosterolemia,210250
ABCG8166.10.990.95{Gallbladder disease 4},611465
ACTN1162.610.99Bleeding disorder, platelet-type, 15615193
ADAMTS13113.70.960.92Thrombotic thrombocytopenic purpura, familial,274150
ANKRD2689.40.880.78Thrombocytopenia 2188000
ANO6144.20.970.93Scott syndrome,262890
AP3B1111.50.970.91Hermansky-Pudlak syndrome 2608233
BLOC1S351.70.970.9Hermansky-Pudlak syndrome 8614077
BLOC1S6106.60.980.92Hermansky-pudlak syndrome 9614171
BRAF770.890.79Adenocarcinoma of lung, somatic,211980
BRAF770.890.79Cardiofaciocutaneous syndrome,115150
BRAF770.890.79Colorectal cancer, somatic115150
BRAF770.890.79LEOPARD syndrome 3613707
BRAF770.890.79Melanoma, malignant, somatic613707
BRAF770.890.79Nonsmall cell lung cancer, somatic613707
BRAF770.890.79Noonan syndrome 7613706
C3170.810.99C3 deficiency,613779
C3170.810.99{Hemolytic uremic syndrome, atypical, susceptibility to, 5},612925
C3170.810.99{Macular degeneration, age-related, 9},611378
CALR115.60.990.96Myelofibrosis, somatic,254450
CALR115.60.990.96Thrombocythemia, somatic,187950
CBL145.20.990.98Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia,613563
CBL145.20.990.98?Juvenile myelomonocytic leukemia,607785
CD36133.30.990.96Platelet glycoprotein IV deficiency,608404
CD36133.30.990.96[Macrothrombocytopenia]608404
CD36133.30.990.96{Coronary heart disease, susceptibility to, 7},610938
CD36133.30.990.96{Malaria, cerebral, reduced risk of},611162
CD36133.30.990.96{Malaria, cerebral, susceptibility to},611162
CD46140.50.970.92{Hemolytic uremic syndrome, atypical, susceptibility to, 2},612922
CFB21.30.810.45?Complement factor B deficiency,615561
CFB21.30.810.45{Hemolytic uremic syndrome, atypical, susceptibility to, 4},612924
CFB21.30.810.45{Macular degeneration, age-related, 14 reduced risk of},615489
CFH193.20.980.96Basal laminar drusen,126700
CFH193.20.980.96Complement factor H deficiency,609814
CFH193.20.980.96{Hemolytic uremic syndrome, atypical, susceptibility to, 1},235400
CFH193.20.980.96{Macular degeneration, age-related, 4},610698
CFHR12070.920.9{Hemolytic uremic syndrome, atypical, susceptibility to},235400
CFHR12070.920.9{Macular degeneration, age-related, reduced risk of},603075
CFHR3107.10.850.8{Hemolytic uremic syndrome, atypical, susceptibility to},235400
CFHR3107.10.850.8{Macular degeneration, age-related, reduced risk of},603075
CFI174.80.970.96Complement factor I deficiency,610984
CFI174.80.970.96{Hemolytic uremic syndrome, atypical, susceptibility to, 3},612923
CFI174.80.970.96{Macular degeneration, age-related, 13 susceptibility to},615439
COL3A1115.80.950.88Ehlers-Danlos syndrome, type IV,130050
CTLA4227.111Autoimmune lymphoproliferative syndrome, type V,616100
CTLA4227.111{Celiac disease, susceptibility to, 3},609755
CTLA4227.111{Diabetes mellitus, insulin-dependent, 12},601388
CTLA4227.111{Hashimoto thyroiditis},140300
CTLA4227.111{Systemic lupus erythematosus, susceptibility to},152700
CYCS77.90.990.95Thrombocytopenia 4612004
DGKE157.90.980.93Nephrotic syndrome, type 7615008
DGKE157.90.980.93{Hemolytic uremic syndrome, atypical, susceptibility to, 7},615008
DIAPH1134.80.990.97Deafness, autosomal dominant 1124900
DIAPH1134.80.990.97Seizures, cortical blindness, microcephaly syndrome,616632
DNASE1213.311{Systemic lupus erythematosus, susceptibility to},152700
DTNBP1119.90.990.96Hermansky-Pudlak syndrome 7614076
ETV6145.610.99Leukemia, acute myeloid, somatic,601626
ETV6145.610.99Thrombocytopenia 5616216
F10182.20.980.98Factor X deficiency,227600
F11169.310.99Factor XI deficiency, autosomal dominant,612416
F11169.310.99Factor XI deficiency, autosomal recessive,612416
F121230.990.99Angioedema, hereditary, type III,610618
F121230.990.99Factor XII deficiency,234000
F13A1184.60.990.99Factor XIIIA deficiency,613225
F13A1184.60.990.99{Myocardial infarction, protection against},608446
F13A1184.60.990.99{Venous thrombosis, protection against},188050
F13B1370.940.86Factor XIIIB deficiency,613235
F2140.90.990.99Dysprothrombinemia,613679
F2140.90.990.99Hypoprothrombinemia,613679
F2140.90.990.99Thrombophilia due to thrombin defect,188050
F2140.90.990.99{Pregnancy loss, recurrent, susceptibility to, 2},614390
F2140.90.990.99{Stroke, ischemic, susceptibility to},601367
F2RL3106.10.990.99No OMIM phenotype601367
F2RL3106.10.990.99Impaired thrombin-induced platelet response (Bianchi et al, -2016 Blood 127(10):1249-1259)601367
F52030.980.97Factor V deficiency,227400
F52030.980.97Thrombophilia due to activated protein C resistance,188055
F52030.980.97{Budd-Chiari syndrome},600880
F52030.980.97{Pregnancy loss, recurrent, susceptibility to, 1},614389
F52030.980.97{Stroke, ischemic, susceptibility to},601367
F52030.980.97{Thrombophilia, susceptibility to, due to factor V Leiden},188055
F7161.210.99Factor VII deficiency,227500
F7161.210.99{Myocardial infarction, decreased susceptibility to},608446
F8146.60.990.98Hemophilia A,306700
F9167.60.980.96Hemophilia B,306900
F9167.60.980.96Thrombophilia, X-linked, due to factor IX defect,300807
F9167.60.980.96{Deep venous thrombosis, protection against},300807
F9167.60.980.96{Warfarin sensitivity},122700
FCGR2A241.611{Lupus nephritis, susceptibility to},152700
FCGR2A241.611{Malaria, severe, susceptibility to},611162
FCGR2A241.611{Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis},219700
FCGR2B159.20.990.97{Malaria, resistance to},611162
FCGR2B159.20.990.97{Systemic lupus erythematosus, susceptibility to},152700
FCGR2C198.510.99Thrombocytopenic purpura, autoimmune,188030
FERMT3132.40.990.99Leukocyte adhesion deficiency,type III,612840
FGA174.30.980.96Afibrinogenemia, congenital,202400
FGA174.30.980.96Amyloidosis, familial visceral,105200
FGA174.30.980.96Dysfibrinogenemia, congenital,616004
FGA174.30.980.96Hypodysfibrinogenemia, congenital,616004
FGB197.60.990.97Afibrinogenemia, congenital,202400
FGB197.60.990.97Dysfibrinogenemia, congenital,616004
FGB197.60.990.97Hypofibrinogenemia, congenital,202400
FGG158.50.980.95Afibrinogenemia, congenital,202400
FGG158.50.980.95Dysfibrinogenemia, congenital,616004
FGG158.50.980.95Hypodysfibrinogenemia,616004
FGG158.50.980.95Hypofibrinogenemia, congenital,202400
FLI1197.90.980.97No OMIM phenotype202400
FLI1197.90.980.97Platelet dense granule secretion defect,excessive bleeding (Stockley -2013 Blood 122,4090)202400
FLNA161.10.990.99Cardiac valvular dysplasia, X-linked,314400
FLNA161.10.990.99Congenital short bowel syndrome,300048
FLNA161.10.990.99FG syndrome 2300321
FLNA161.10.990.99Frontometaphyseal dysplasia,305620
FLNA161.10.990.99Heterotopia, periventricular,300049
FLNA161.10.990.99Heterotopia, periventricular, ED variant,300537
FLNA161.10.990.99Intestinal pseudoobstruction, neuronal,300048
FLNA161.10.990.99Melnick-Needles syndrome,309350
FLNA161.10.990.99Otopalatodigital syndrome, type I,311300
FLNA161.10.990.99Otopalatodigital syndrome, type II,304120
FLNA161.10.990.99Terminal osseous dysplasia,300244
GATA1950.990.97Anemia, X-linked, with/without neutropenia and/or platelet abnormalities,300835
GATA1950.990.97Leukemia, megakaryoblastic, with or without Down syndrome, somatic,190685
GATA1950.990.97Thrombocytopenia with beta-thalassemia, X-linked,314050
GATA1950.990.97Thrombocytopenia, X-linked, with or without dyserythropoietic anemia,300367
GFI1B183.811Bleeding disorder, platelet-type, 17187900
GGCX124.50.990.98Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency,610842
GGCX124.50.990.98Vitamin K-dependent clotting factors, combined deficiency of, 1277450
GP1BA1690.970.95Bernard-Soulier syndrome, type A1 (recessive),231200
GP1BA1690.970.95Bernard-Soulier syndrome, type A2 (dominant),153670
GP1BA1690.970.95von Willebrand disease, platelet-type,177820
GP1BA1690.970.95{Nonarteritic anterior ischemic optic neuropathy, susceptibility to},258660
GP1BB42.10.80.69Bernard-Soulier syndrome, type B,231200
GP1BB42.10.80.69Giant platelet disorder, isolated,231200
GP6140.110.99Bleeding disorder, platelet-type, 11614201
GP9850.960.88Bernard-Soulier syndrome, type C,231200
HABP2158.410.99{?Thyroid cancer, nonmedullary, 5},616535
HABP2158.410.99{Venous thromboembolism, susceptibility to},188050
HOXA1199.50.940.85Radioulnar synostosis with amegakaryocytic thrombocytopenia 1605432
HPS1130.10.990.99Hermansky-Pudlak syndrome 1203300
HPS3159.50.990.97Hermansky-Pudlak syndrome 3614072
HPS4159.710.99Hermansky-Pudlak syndrome 4614073
HPS51550.990.98Hermansky-Pudlak syndrome 5614074
HPS6140.90.970.89Hermansky-Pudlak syndrome 6614075
HRG188.60.960.94Thrombophilia due to elevated HRG,613116
HRG188.60.960.94Thrombophilia due to HRG deficiency,613116
ITGA2164.50.980.95?Glycoprotein Ia deficiency,614200
ITGA2B125.60.990.97Bleeding disorder, platelet-type, 16 autosomal dominant,187800
ITGA2B125.60.990.97Glanzmann thrombasthenia,273800
ITGA2B125.60.990.97Thrombocytopenia, neonatal alloimmune, BAK antigen related273800
ITGB3156.90.990.98Bleeding disorder, platelet-type, 16 autosomal dominant,187800
ITGB3156.90.990.98Glanzmann thrombasthenia,273800
ITGB3156.90.990.98Purpura, posttransfusion273800
ITGB3156.90.990.98Thrombocytopenia, neonatal alloimmune273800
ITGB3156.90.990.98{Myocardial infarction, susceptibility to},608446
JAK21030.950.92Erythrocytosis, somatic,133100
JAK21030.950.92Leukemia, acute myeloid, somatic,601626
JAK21030.950.92Myelofibrosis, somatic,254450
JAK21030.950.92Polycythemia vera, somatic,263300
JAK21030.950.92Thrombocythemia 3614521
JAK21030.950.92{Budd-Chiari syndrome, somatic},600800
KLKB1173.50.980.95Fletcher factor (prekallikrein) deficiency,612423
KNG1210.611[High molecular weight kininogen deficiency],228960
KNG1210.611[Kininogen deficiency],228960
KRAS72.10.990.96Bladder cancer, somatic,109800
KRAS72.10.990.96Breast cancer, somatic,114480
KRAS72.10.990.96Cardiofaciocutaneous syndrome 2615278
KRAS72.10.990.96Gastric cancer, somatic,137215
KRAS72.10.990.96Leukemia, acute myeloid,601626
KRAS72.10.990.96Lung cancer, somatic,211980
KRAS72.10.990.96Noonan syndrome 3609942
KRAS72.10.990.96Pancreatic carcinoma, somatic,260350
KRAS72.10.990.96RAS-associated autoimmune leukoproliferative disorder,614470
KRAS72.10.990.96Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic,163200
LMAN1144.20.980.92Combined factor V and VIII deficiency,227300
LYST151.30.970.94Chediak-Higashi syndrome,214500
LZTR1157.80.990.98Noonan syndrome 10616564
LZTR1157.80.990.98{Schwannomatosis-2, susceptibility to},615670
MASTL147.20.990.98?Thrombocytopenia-2,188000
MCFD2114.410.99Factor V and factor VIII, combined deficiency of,613625
MECOM170.30.990.99Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738
MLPH104.80.990.96Griscelli syndrome, type 3609227
MPL156.70.990.97Myelofibrosis with myeloid metaplasia, somatic,254450
MPL156.70.990.97Thrombocythemia 2601977
MPL156.70.990.97Thrombocytopenia, congenital amegakaryocytic,604498
MTHFR153.210.99Homocystinuria due to MTHFR deficiency,236250
MTHFR153.210.99{Neural tube defects, susceptibility to},601634
MTHFR153.210.99{Schizophrenia, susceptibility to},181500
MTHFR153.210.99{Thromboembolism, susceptibility to},188050
MTHFR153.210.99{Vascular disease, susceptibility to}188050
MYH9146.40.990.98Deafness, autosomal dominant 17603622
MYH9146.40.990.98Epstein syndrome,153650
MYH9146.40.990.98Fechtner syndrome,153640
MYH9146.40.990.98Macrothrombocytopenia and progressive sensorineural deafness,600208
MYH9146.40.990.98May-Hegglin anomaly,155100
MYH9146.40.990.98Sebastian syndrome,605249
MYO5A142.90.990.97Griscelli syndrome, type 1214450
NBEA147.10.90.89No OMIM phenotype214450
NBEA147.10.90.89Autism, idiopathic (Castermans -2003 J Med Genet 40 352)214450
NBEA147.10.90.89?Schizophrenia (Fromer -2014 Nature 506 179)214450
NBEA147.10.90.89?Obesity, extreme (Mariman -2015 Physiol Genomics 47,225)214450
NBEA147.10.90.89?Tetralogy of Fallot (Silversides -2012 PloS Genet 8)214450
NBEAL21860.990.99Gray platelet syndrome,139090
NRAS205.711Colorectal cancer, somatic,114500
NRAS205.711Epidermal nevus, somatic,162900
NRAS205.711Melanocytic nevus syndrome, congenital, somatic,137550
NRAS205.711Neurocutaneous melanosis, somatic,249400
NRAS205.711Noonan syndrome 6613224
NRAS205.711Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic,163200
NRAS205.711Thyroid carcinoma, follicular, somatic,188470
NRAS205.711?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic,614470
P2RX1135.90.990.99Bleeding disorder due to P2RX1 defect, somatic,609821
P2RY12210.111Bleeding disorder, platelet-type, 8609821
PLA2G4A159.40.990.99Phospholipase A2, group IV A, deficiency of609821
PLA2G7137.20.990.97Platelet-activating factor acetylhydrolase deficiency,614278
PLA2G7137.20.990.97{Asthma, susceptibility to},600807
PLA2G7137.20.990.97{Atopy, susceptibility to},147050
PLAT111.910.99Hyperfibrinolysis, familial, due to increased release of PLAT,612348
PLAT111.910.99Thrombophilia, familial, due to decreased release of PLAT,612348
PLAU123.210.98Quebec platelet disorder,601709
PLAU123.210.98{Alzheimer disease, late-onset, susceptibility to},104300
PLCB2126.80.990.97Platelet PLC beta-2 deficiency104300
PLG133.10.870.87Dysplasminogenemia,217090
PLG133.10.870.87Plasminogen deficiency, type I,217090
PRKACG266.811?Bleeding disorder, platelet-type, 19616176
PROC149.80.990.98Thrombophilia due to protein C deficiency, autosomal dominant,176860
PROC149.80.990.98Thrombophilia due to protein C deficiency, autosomal recessive,612304
PROS187.50.960.92Thrombophilia due to protein S deficiency, autosomal dominant,612336
PROS187.50.960.92Thrombophilia due to protein S deficiency, autosomal recessive,614514
PROZ14210.99[Protein Z deficiency],614024
PTGS1165.40.990.98No OMIM phenotype614024
PTPN11101.20.960.9LEOPARD syndrome 1151100
PTPN11101.20.960.9Leukemia, juvenile myelomonocytic, somatic,607785
PTPN11101.20.960.9Metachondromatosis,156250
PTPN11101.20.960.9Noonan syndrome 1163950
PTPN22148.40.970.9{Diabetes, type 1 susceptibility to},222100
PTPN22148.40.970.9{Rheumatoid arthritis, susceptibility to},180300
PTPN22148.40.970.9{Systemic lupus erythematosus susceptibility to},152700
RAB27A17810.98Griscelli syndrome, type 2607624
RAF113810.99Cardiomyopathy, dilated, 1NN,615916
RAF113810.99LEOPARD syndrome 2611554
RAF113810.99Noonan syndrome 5611553
RASGRP2111.20.990.97?Bleeding disorder, platelet-type, 18615888
RBM8A116.60.990.98Thrombocytopenia-absent radius syndrome,274000
RIT1184.411Noonan syndrome 8615355
RUNX1120.50.960.92Leukemia, acute myeloid,601626
RUNX1120.50.960.92Platelet disorder, familial, with associated myeloid malignancy,601399
SELP149.40.990.99{Atopy, susceptibility to},147050
SERPINC115411Thrombophilia due to antithrombin III deficiency,613118
SERPIND1170.911Thrombophilia due to heparin cofactor II deficiency,612356
SERPINE116510.99Plasminogen activator inhibitor-1 deficiency,613329
SERPINE116510.99{Transcription of plasminogen activator inhibitor, modulator of}613329
SERPINF2147.70.990.98Alpha-2-plasmin inhibitor deficiency,262850
SH2B3103.40.910.81Erythrocytosis, somatic,133100
SH2B3103.40.910.81Myelofibrosis, somatic,254450
SH2B3103.40.910.81Thrombocythemia, somatic,187950
SLFN14224.911Bleeding disorder,platelet-type,20,616913
SOS1106.90.960.9Noonan syndrome 4610733
SOS1106.90.960.9?Fibromatosis, gingival, 1135300
SOS2110.30.980.94Noonan syndrome 9616559
SRC121.50.990.97Colon cancer, advanced, somatic616559
SRC121.50.990.97?Thrombocytopenia 6,616937
STIM1143.10.990.96Immunodeficiency 10612783
STIM1143.10.990.96Myopathy, tubular aggregate, 1160565
STIM1143.10.990.96Stormorken syndrome,185070
STXBP2134.60.990.98Hemophagocytic lymphohistiocytosis, familial, 5613101
TALDO1143.210.99Transaldolase deficiency,606003
TBX186.70.770.66Conotruncal anomaly face syndrome,217095
TBX186.70.770.66DiGeorge syndrome,188400
TBX186.70.770.66Tetralogy of Fallot,187500
TBX186.70.770.66Velocardiofacial syndrome,192430
TBXA2R74.30.950.89{Bleeding disorder, platelet-type, 13 susceptibility to},614009
TBXAS1161.111Ghosal hematodiaphyseal syndrome,231095
TBXAS1161.111?Thromboxane synthase deficiency,614158
THBD1230.990.97Thrombophilia due to thrombomodulin defect,614486
THBD1230.990.97{Hemolytic uremic syndrome, atypical, susceptibility to, 6},612926
THPO102.511Thrombocythemia 1187950
TREX1272.211Aicardi-Goutieres syndrome 1 dominant and recessive,225750
TREX1272.211Chilblain lupus,610448
TREX1272.211Vasculopathy, retinal, with cerebral leukodystrophy,192315
TREX1272.211{Systemic lupus erythematosus, susceptibility to},152700
TUBB1185.811Macrothrombocytopenia, autosomal dominant, TUBB1-related,613112
VIPAS39163.310.99Arthrogryposis, renal dysfunction, and cholestasis 2613404
VKORC1158.910.99Vitamin K-dependent clotting factors, combined deficiency of, 2607473
VKORC1158.910.99Warfarin resistance,122700
VPS33B15411Arthrogryposis, renal dysfunction, and cholestasis 1208085
VWF126.10.990.99von Willebrand disease, type 1193400
VWF126.10.990.99von Willebrand disease, types 2A, 2B, 2M, and 2N,613554
VWF126.10.990.99von Willibrand disease, type 3277480
WAS68.70.870.78Neutropenia, severe congenital, X-linked,300299
WAS68.70.870.78Thrombocytopenia, X-linked,313900
WAS68.70.870.78Thrombocytopenia, X-linked, intermittent,313900
WAS68.70.870.78Wiskott-Aldrich syndrome,301000
WIPF1940.990.98?Wiskott-Aldrich syndrome 2614493

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