qGenEx IP. Panel Inmunodeficiencias Primarias

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

qGenEx IP analiza 303 genes asociados a inmunodeficiencias primarias 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 
ACP5224.910.99Spondyloenchondrodysplasia with immune dysregulation,607944
ACTB134.10.980.93Baraitser-Winter syndrome 1243310
ACTB134.10.980.93?Dystonia, juvenile-onset,607371
ADA1180.990.97Adenosine deaminase deficiency, partial,102700
ADA1180.990.97Severe combined immunodeficiency due to ADA deficiency,102700
ADAM17140.90.970.93?Inflammatory skin and bowel disease, neonatal, 1614328
ADAR131.710.99Aicardi-Goutieres syndrome 6615010
ADAR131.710.99Dyschromatosis symmetrica hereditaria,127400
AGA154.111Aspartylglucosaminuria,208400
AICDA150.70.970.91Immunodeficiency with hyper-IgM, type 2605258
AIRE83.30.990.93Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia,605258
AIRE83.30.990.93Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia,240300
AK21170.980.94Reticular dysgenesis,267500
ALG13107.40.980.94Epileptic encephalopathy, early infantile, 36300884
AP3B1111.50.970.91Hermansky-Pudlak syndrome 2608233
APOL1192.411{End-stage renal disease, nondiabetic, susceptibility to},612551
APOL1192.411{Glomerulosclerosis, focal segmental, 4 susceptibility to},612551
ATM124.30.980.93Ataxia-telangiectasia,208900
ATM124.30.980.93Lymphoma, B-cell non-Hodgkin, somatic208900
ATM124.30.980.93Lymphoma, mantle cell, somatic208900
ATM124.30.980.93T-cell prolymphocytic leukemia, somatic208900
ATM124.30.980.93{Breast cancer, susceptibility to},114480
BLM139.60.980.95Bloom syndrome,210900
BLNK121.50.930.9Agammaglobulinemia 4613502
BLOC1S6106.60.980.92Hermansky-pudlak syndrome 9614171
BTK150.910.99Agammaglobulinemia and isolated hormone deficiency,307200
BTK150.910.99Agammaglobulinemia, X-linked 1300755
C1QA130.20.980.95C1q deficiency,613652
C1QB1950.990.99C1q deficiency,613652
C1QC232.310.99C1q deficiency,613652
C1R168.311C1r/C1s deficiency, combined,216950
C1S144.710.99C1s deficiency,613783
C218.50.80.34C2 deficiency,217000
C218.50.80.34{Macular degeneration, age-related, 14 reduced risk of},615489
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
C4A20.70.750.43C4a deficiency,614380
C4A20.70.750.43[Blood group, Rodgers],614374
C4B190.720.38C4B deficiency,614379
C51500.970.94C5 deficiency,609536
C51500.970.94[Eculizumab, poor response to],615749
C6179.30.990.99C6 deficiency,612446
C6179.30.990.99Combined C6/C7 deficiency612446
C7153.60.980.94C7 deficiency,610102
C8A129.810.99C8 deficiency, type I,613790
C8B153.910.99C8 deficiency, type II,613789
C91520.990.98C9 deficiency,613825
C91520.990.98{Macular degeneration, age-related, 15 susceptibility to},615591
CARD11172.60.990.97B-cell expansion with NFKB and T-cell anergy,616452
CARD11172.60.990.97Immunodeficiency 11615206
CARD14120.70.990.98Pityriasis rubra pilaris,173200
CARD14120.70.990.98Psoriasis 2602723
CARD9126.30.970.96Candidiasis, familial, 2 autosomal recessive,212050
CASP10123.60.990.96Autoimmune lymphoproliferative syndrome, type II,603909
CASP10123.60.990.96Gastric cancer, somatic,613659
CASP10123.60.990.96Lymphoma, non-Hodgkin, somatic,605027
CASP8179.310.99Hepatocellular carcinoma, somatic,114550
CASP8179.310.99?Autoimmune lymphoproliferative syndrome, type IIB,607271
CASP8179.310.99{Breast cancer, protection against},114480
CASP8179.310.99{Lung cancer, protection against},211980
CD19100.70.990.98Immunodeficiency, common variable, 3613493
CD247124.311?Immunodeficiency 25610163
CD27126.30.990.99Lymphoproliferative syndrome 2615122
CD3D217.511Immunodeficiency 19615617
CD3E172.610.99Immunodeficiency 18615615
CD3E172.610.99Immunodeficiency 18 SCID variant,615615
CD3G18911Immunodeficiency 17 CD3 gamma deficient,615607
CD40205.110.99Immunodeficiency with hyper-IgM, type 3606843
CD40LG1510.960.9Immunodeficiency, X-linked, with hyper-IgM,308230
CD46140.50.970.92{Hemolytic uremic syndrome, atypical, susceptibility to, 2},612922
CD55154.80.910.83[Blood group Cromer],613793
CD59234.20.920.86Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy,612300
CD79A146.60.990.97Agammaglobulinemia 3613501
CD79B241.511Agammaglobulinemia 6612692
CD81162.710.99Immunodeficiency, common variable, 6613496
CD8A1080.990.98CD8 deficiency, familial,608957
CDCA7113.40.990.98Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910
CDKN2B72.80.990.99No OMIM phenotype616910
CDKN2B72.80.990.99Renal cell carcinoma (Jafri -2015 Cancer Discov 5 723)616910
CDKN2B72.80.990.99Multiple endocrine neoplasia 1 (Agarwal -2009 J Clin Endocrinol Metab 94 1826)616910
CDKN2B72.80.990.99?Melanoma (Foley -2015 EBioMedicine 2,74)616910
CDKN2B72.80.990.99?Parathyroid adenoma (Costa-Guda -2013 Horm Cancer 4 301)616910
CEBPE78.40.990.98Specific granule deficiency,245480
CECR1111.60.990.98Polyarteritis nodosa, childhood-onset,615688
CECR1111.60.990.98?Sneddon syndrome,182410
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
CFD74.20.950.86Complement factor D deficiency,613912
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
CFHR5112.20.980.94Nephropathy due to CFHR5 deficiency,614809
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
CFP103.50.980.93Properdin deficiency,X-linked,312060
CHD71610.990.98CHARGE syndrome,214800
CHD71610.990.98Hypogonadotropic hypogonadism 5 with or without anosmia,612370
CIITA133.910.99Bare lymphocyte syndrome, type II, complementation group A,209920
CIITA133.910.99{Rheumatoid arthritis, susceptibility to},180300
CLEC4D151.111No OMIM phenotype180300
CLEC7A170.210.99Candidiasis, familial, 4 autosomal recessive,613108
CLEC7A170.210.99{Aspergillosis, susceptibility to},614079
COLEC11220.9113MC syndrome 2265050
COPA147.510.99{Autoimmune interstitial lung, joint, and kidney disease},616414
CORO1A172.40.980.94Immunodeficiency 8615401
CR2183.510.99Immunodeficiency, common variable, 7614699
CR2183.510.99{Systemic lupus erythematosus, susceptibility to, 9},610927
CREBBP147.60.990.96Rubinstein-Taybi syndrome,180849
CSF2RA61.20.890.86Surfactant metabolism dysfunction, pulmonary, 4300770
CSF3R100.30.980.95?Neutrophilia, hereditary,162830
CTC1118.90.990.99Cerebroretinal microangiopathy with calcifications and cysts,612199
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
CTSC148.611Haim-Munk syndrome,245010
CTSC148.611Papillon-Lefevre syndrome,245000
CTSC148.611Periodontitis 1 juvenile,170650
CXCR4210.410.99Myelokathexis, isolated170650
CXCR4210.410.99WHIM syndrome,193670
CYBA99.10.860.79Chronic granulomatous disease, autosomal, due to deficiency of CYBA,233690
CYBB143.110.99Chronic granulomatous disease, X-linked,306400
CYBB143.110.99Immunodeficiency 34 mycobacteriosis, X-linked,300645
DCLRE1C144.20.970.94Omenn syndrome,603554
DCLRE1C144.20.970.94Severe combined immunodeficiency, Athabascan type,602450
DDX58146.40.980.96Singleton-Merten syndrome 2616298
DHFR550.90.73Megaloblastic anemia due to dihydrofolate reductase deficiency,613839
DKC1138.10.990.98Dyskeratosis congenita, X-linked,305000
DNMT3B14110.99Immunodeficiency-centromeric instability-facial anomalies syndrome 1242860
DOCK2161.110.99Immunodeficiency 40616433
DOCK8151.810.99Hyper-IgE recurrent infection syndrome, autosomal recessive,243700
ELANE103.80.990.97Neutropenia, cyclic,162800
ELANE103.80.990.97Neutropenia, severe congenital 1 autosomal dominant,202700
ELF493.10.990.97No OMIM phenotype202700
EPG5144.70.990.97Vici syndrome,242840
ERCC2143.510.99Cerebrooculofacioskeletal syndrome 2610756
ERCC2143.510.99Trichothiodystrophy 1 photosensitive,601675
ERCC2143.510.99Xeroderma pigmentosum, group D,278730
ERCC3117.60.990.98Trichothiodystrophy 2 photosensitive,616390
ERCC3117.60.990.98Xeroderma pigmentosum, group B,610651
F121230.990.99Angioedema, hereditary, type III,610618
F121230.990.99Factor XII deficiency,234000
FADD142.20.990.98Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations,234000
FADD142.20.990.98Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations,613759
FAS3030.990.99Autoimmune lymphoproliferative syndrome, type IA,601859
FAS3030.990.99Squamous cell carcinoma, burn scar-related, somatic601859
FAS3030.990.99{Autoimmune lymphoproliferative syndrome},601859
FASLG97.910.99Autoimmune lymphoproliferative syndrome, type IB,601859
FASLG97.910.99{Lung cancer, susceptibility to},211980
FCGR1A69.20.470.42[IgG receptor I, phagocytic, familial deficiency of]211980
FCGR3A226.310.99Immunodeficiency 20615707
FCN3143.30.990.99Immunodeficiency due to ficolin 3 deficiency,613860
FERMT3132.40.990.99Leukocyte adhesion deficiency,type III,612840
FOXN1110.90.990.98T-cell immunodeficiency, congenital alopecia, and nail dystrophy,601705
FOXP3136.80.980.91Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked,304790
FOXP3136.80.980.91{Diabetes mellitus, type I, susceptibility to},222100
FPR1228.610.99No OMIM phenotype222100
G6PC219.411Glycogen storage disease Ia,232200
G6PC3138.411Dursun syndrome,612541
G6PC3138.411Neutropenia, severe congenital 4 autosomal recessive,612541
G6PD1380.990.98Favism,134700
G6PD1380.990.98Hemolytic anemia due to G6PD deficiency,300908
G6PD1380.990.98{Resistance to malaria due to G6PD deficiency},611162
GATA2145.610.99Emberger syndrome,614038
GATA2145.610.99Immunodeficiency 21614172
GATA2145.610.99{Leukemia, acute myeloid, susceptibility to},601626
GATA2145.610.99{Myelodysplastic syndrome, susceptibility to},614286
GFI199.20.980.92Neutropenia, nonimmune chronic idiopathic, of adults,607847
GFI199.20.980.92Neutropenia, severe congenital 2 autosomal dominant,613107
GJC252.20.850.68Leukodystrophy, hypomyelinating, 2608804
GJC252.20.850.68Lymphedema, hereditary, IC,613480
GJC252.20.850.68Spastic paraplegia 44 autosomal recessive,613206
GTF2H5149.410.99Trichothiodystrophy 3 photosensitive,616395
HAX114811Neutropenia, severe congenital 3 autosomal recessive,610738
HELLS106.60.910.86Immunodeficiency-centromeric instability-facial anomalies syndrome 4,616911
ICOS168.710.99Immunodeficiency, common variable, 1607594
IFIH11300.980.96Aicardi-Goutieres syndrome 7615846
IFIH11300.980.96Singleton-Merten syndrome 1182250
IFNGR1153.40.990.97Immunodeficiency 27A, mycobacteriosis, AR,209950
IFNGR1153.40.990.97Immunodeficiency 27B, mycobacteriosis, AD,615978
IFNGR1153.40.990.97{H, pylori infection, susceptibility to},600263
IFNGR1153.40.990.97{Hepatitis B virus infection, susceptibility to},610424
IFNGR1153.40.990.97{Tuberculosis infection, protection against},607948
IFNGR1153.40.990.97{Tuberculosis, susceptibility to},607948
IFNGR2169.10.940.93Immunodeficiency 28 mycobacteriosis,614889
IGLL1730.980.92Agammaglobulinemia 2613500
IKBKB135.80.980.94Immunodeficiency 15615592
IKBKG56.20.840.7Ectodermal dysplasia, hypohidrotic, with immune deficiency,300291
IKBKG56.20.840.7Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency,300301
IKBKG56.20.840.7Immunodeficiency 33300636
IKBKG56.20.840.7Immunodeficiency, isolated,300584
IKBKG56.20.840.7Incontinentia pigmenti,308300
IKBKG56.20.840.7Invasive pneumococcal disease, recurrent isolated, 2300640
IKZF1188.910.99Immunodeficiency,common variable, 1,616873
IL10RA156.710.99Inflammatory bowel disease 28 early onset, autosomal recessive,613148
IL10RB214.30.980.96Inflammatory bowel disease 25 early onset, autosomal recessive,612567
IL10RB214.30.980.96{Hepatitis B virus, susceptibility to},610424
IL12B125.910.99Immunodeficiency 29 mycobacteriosis,614890
IL12RB1137.30.970.95Immunodeficiency 30614891
IL17F89.20.990.95?Candidiasis, familial, 6 autosomal dominant,613956
IL17RA136.40.990.96?Candidiasis, familial, 5 autosomal recessive,613953
IL1RN186.910.99Interleukin 1 receptor antagonist deficiency,612852
IL1RN186.910.99{Gastric cancer risk after H, pylori infection},137215
IL1RN186.910.99{Microvascular complications of diabetes 4},612628
IL273.60.940.85Severe combined immunodeficiency due to IL2 deficiency612628
IL21R144.110.99Immunodeficiency, primary, autosomal recessive, IL21R-related,615207
IL21R144.110.99[IgE, elevated level of],147050
IL2RA143.510.99Immunodeficiency 41 with lymphoproliferation and autoimmunity,606367
IL2RA143.510.99{Diabetes, mellitus, insulin-dependent, susceptibility to, 10},601942
IL2RG78.610.98Combined immunodeficiency, X-linked, moderate,312863
IL2RG78.610.98Severe combined immunodeficiency, X-linked,300400
IL36RN106.910.99Psoriasis 14 pustular,614204
IL7R154.910.99Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type,608971
INSR146.50.960.94Diabetes mellitus, insulin-resistant, with acanthosis nigricans,610549
INSR146.50.960.94Hyperinsulinemic hypoglycemia, familial, 5609968
INSR146.50.960.94Leprechaunism,246200
INSR146.50.960.94Rabson-Mendenhall syndrome,262190
IRAK41050.970.88Invasive pneumococcal disease, recurrent isolated, 1610799
IRAK41050.970.88IRAK4 deficiency,607676
IRF7101.20.990.99?Immunodeficiency 39616345
IRF8124.30.990.97Immunodeficiency 32A, mycobacteriosis, autosomal dominant,614893
IRF8124.30.990.97Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive,614894
ISG15167.811Immunodeficiency 38616126
ITCH136.20.950.94Autoimmune disease, multisystem, with facial dysmorphism,613385
ITGB2174.410.99Leukocyte adhesion deficiency,116920
ITK1410.990.98Lymphoproliferative syndrome 1613011
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
JAK3111.60.980.94SCID, autosomal recessive, T-negative/B-positive type,600802
KMT2D162.10.990.99Kabuki syndrome 1147920
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
LAMTOR2175.911Immunodeficiency due to defect in MAPBP-interacting protein,610798
LCK176.30.970.95?Immunodeficiency 22615758
LIG1102.60.990.99DNA ligase I deficiency615758
LIG4181.810.99LIG4 syndrome,606593
LIG4181.810.99{Multiple myeloma, resistance to},254500
LPIN2129.60.990.99Majeed syndrome,609628
LRBA1500.980.97Immunodeficiency, common variable, 8 with autoimmunity,614700
LRRC8A290.60.990.99Agammaglobulinemia 5613506
LTBP3126.40.980.96Dental anomalies and short stature,601216
LYST151.30.970.94Chediak-Higashi syndrome,214500
MAGT1130.40.980.95Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia,214500
MAGT1130.40.980.95Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia,300853
MAL158.411No OMIM phenotype300853
MAN2B1137.20.980.96Mannosidosis, alpha-, types I and II,248500
MANBA144.20.990.95Mannosidosis, beta,248510
MASP2165.40.990.98MASP2 deficiency,613791
MBL2137.10.990.99{Chronic infections, due to MBL deficiency},614372
MC2R233.710.99Glucocorticoid deficiency, due to ACTH unresponsiveness,202200
MCM4182.80.990.98Natural killer cell and glucocorticoid deficiency with DNA repair defect,609981
MEFV131.10.950.91Familial Mediterranean fever, AD,134610
MEFV131.10.950.91Familial Mediterranean fever, AR,249100
MKL1119.50.980.95Megakaryoblastic leukemia, acute249100
MPO164.810.99Myeloperoxidase deficiency,254600
MPO164.810.99{Alzheimer disease, susceptibility to},104300
MPO164.810.99{Lung cancer, protection against, in smokers}104300
MRE11A57.60.950.85Ataxia-telangiectasia-like disorder,604391
MS4A11380.990.95Immunodeficiency, common variable, 5613495
MTHFD1157.80.990.97{Abruptio placentae, susceptibility to}613495
MTHFD1157.80.990.97{Spina bifida, folate-sensitive, susceptibility to},601634
MVK146.110.99Hyper-IgD syndrome,260920
MVK146.110.99Mevalonic aciduria,610377
MVK146.110.99Porokeratosis 3 multiple types,175900
MYD88207.30.990.99Macroglobulinemia, Waldenstrom, somatic,153600
MYD88207.30.990.99Pyogenic bacterial infections, recurrent, due to MYD88 deficiency,612260
NBN89.50.980.94Aplastic anemia,609135
NBN89.50.980.94Leukemia, acute lymphoblastic,613065
NBN89.50.980.94Nijmegen breakage syndrome,251260
NCF121.90.250.22Chronic granulomatous disease due to deficiency of NCF-1,233700
NCF2138.10.990.98Chronic granulomatous disease due to deficiency of NCF-2,233710
NCF4174.610.99?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III,613960
NCSTN127.910.99Acne inversa, familial, 1142690
NDNL21390.980.95No OMIM phenotype142690
NFKB1122.70.990.95Immunodeficiency, common variable, 12616576
NFKB2139.30.980.95Immunodeficiency, common variable, 10615577
NFKBIA117.70.980.94Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency,612132
NHEJ187.610.98Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing612132
NHEJ187.610.98radiation,611291
NHP287.30.990.98Dyskeratosis congenita, autosomal recessive 2613987
NKX2-594.710.99Atrial septal defect 7 with or without AV conduction defects,108900
NKX2-594.710.99Conotruncal heart malformations, variable,217095
NKX2-594.710.99Hypoplastic left heart syndrome 2614435
NKX2-594.710.99Hypothyroidism, congenital nongoitrous, 5225250
NKX2-594.710.99Tetrology of Fallot,187500
NKX2-594.710.99Ventricular septal defect 3614432
NLRC4191.410.99Autoinflammation with infantile enterocolitis,616050
NLRC4191.410.99?Familial cold autoinflammatory syndrome 4616115
NLRP11370.990.96?Corneal intraepithelial dyskeratosis and ectodermal dysplasia,615225
NLRP11370.990.96{Vitiligo-associated multiple autoimmune disease susceptibility 1},606579
NLRP12168.80.990.99Familial cold autoinflammatory syndrome 2611762
NLRP3153.210.99CINCA syndrome,607115
NLRP3153.210.99Familial cold-induced inflammatory syndrome 1120100
NLRP3153.210.99Muckle-Wells syndrome,191900
NOD2148.910.99Blau syndrome,186580
NOD2148.910.99Sarcoidosis, early-onset,609464
NOD2148.910.99{Inflammatory bowel disease 1},266600
NOD2148.910.99{Psoriatic arthritis, susceptibility to},607507
NOP10189.411Dyskeratosis congenita, autosomal recessive 1224230
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
ORAI1223.90.930.91Immunodeficiency 9612782
ORAI1223.90.930.91Myopathy, tubular aggregate, 2615883
PARN140.40.990.97Dyskeratosis congenita, autosomal recessive 6616353
PARN140.40.990.97Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4616371
PBX1123.10.980.95Leukemia, acute pre-B-cell,176310
PCCA116.60.960.91Propionicacidemia,606054
PCCB160.50.970.95Propionicacidemia,606054
PEPD121.40.990.98Prolidase deficiency,170100
PGM3212.510.99Immunodeficiency 23615816
PIGA102.10.920.84Multiple congenital anomalies-hypotonia-seizures syndrome 2300868
PIGA102.10.920.84Paroxysmal nocturnal hemoglobinuria, somatic,300818
PIK3CD149.10.990.97Immunodeficiency 14615513
PIK3R11440.990.96Immunodeficiency 36616005
PIK3R11440.990.96SHORT syndrome,269880
PIK3R11440.990.96?Agammaglobulinemia 7 autosomal recessive,615214
PLCG2133.610.99Autoinflammation, antibody deficiency, and immune dysregulation syndrome,614878
PLCG2133.610.99Familial cold autoinflammatory syndrome 3614468
PLG133.10.870.87Dysplasminogenemia,217090
PLG133.10.870.87Plasminogen deficiency, type I,217090
PMM2178.40.990.99Congenital disorder of glycosylation, type Ia,212065
PNP148.510.99Immunodeficiency due to purine nucleoside phosphorylase deficiency,613179
PRF1130.410.99Aplastic anemia,609135
PRF1130.410.99Hemophagocytic lymphohistiocytosis, familial, 2603553
PRF1130.410.99Lymphoma, non-Hodgkin,605027
PRKDC120.40.970.93Immunodeficiency 26 with or without neurologic abnormalities,615966
PRPS1201.511Arts syndrome,301835
PRPS1201.511Charcot-Marie-Tooth disease, X-linked recessive, 5311070
PRPS1201.511Deafness, X-linked 1304500
PRPS1201.511Gout, PRPS-related,300661
PRPS1201.511Phosphoribosylpyrophosphate synthetase superactivity,300661
PSENEN93.70.990.99Acne inversa, familial, 2613736
PSMB816.10.570.25Autoinflammation, lipodystrophy, and dermatosis syndrome,256040
PSTPIP199.80.990.95Pyogenic sterile arthritis, pyoderma gangrenosum, and acne,604416
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
PTPRC115.80.930.86Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive,608971
PTPRC115.80.930.86{Hepatitic C virus, susceptibility to},609532
PTRF142.90.990.98Lipodystrophy, congenital generalized, type 4613327
RAB27A17810.98Griscelli syndrome, type 2607624
RAC2130.510.99Neutrophil immunodeficiency syndrome,608203
RAG1230.711Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection,608203
RAG1230.711and autoimmunity,609889
RAG1230.711Combined cellular and humoral immune defects with granulomas,233650
RAG1230.711Omenn syndrome,603554
RAG1230.711Severe combined immunodeficiency, B cell-negative,601457
RAG2258.810.99Combined cellular and humoral immune defects with granulomas,233650
RAG2258.810.99Omenn syndrome,603554
RAG2258.810.99Severe combined immunodeficiency, B cell-negative,601457
RASGRP2111.20.990.97?Bleeding disorder, platelet-type, 18615888
RBCK1110.10.970.93Polyglucosan body myopathy 1 with or without immunodeficiency,615895
RECQL41500.980.97Baller-Gerold syndrome,218600
RECQL41500.980.97RAPADILINO syndrome,266280
RECQL41500.980.97Rothmund-Thomson syndrome,268400
RFX5121.30.980.97Bare lymphocyte syndrome, type II, complementation group C,209920
RFX5121.30.980.97Bare lymphocyte syndrome, type II, complementation group E,209920
RFXANK116.611MHC class II deficiency, complementation group B,209920
RFXAP130.50.950.92Bare lymphocyte syndrome, type II, complementation group D,209920
RHOH142.511No OMIM phenotype209920
RHOH142.511RMRP NC NC NC Anauxetic dysplasia,607095
RHOH142.511Cartilage-hair hypoplasia,250250
RHOH142.511Metaphyseal dysplasia without hypotrichosis,250460
RNASEH2A149.310.99Aicardi-Goutieres syndrome 4610333
RNASEH2B125.10.940.84Aicardi-Goutieres syndrome 2610181
RNASEH2C207.60.990.97Aicardi-Goutieres syndrome 3610329
RNF168261.810.98RIDDLE syndrome,611943
RNF31165.80.990.97No OMIM phenotype611943
RNF31165.80.990.97Autoinflammation, immunodeficiency, amylopectinosis and lymphangiectasia (Boisson -2015 J Exp611943
RNF31165.80.990.97Med 212,939)611943
RPSA89.810.99Asplenia, isolated congenital,271400
RSPH9150.80.990.98Ciliary dyskinesia, primary, 12612650
RTEL1127.40.990.96Dyskeratosis congenita, autosomal dominant 4615190
RTEL1127.40.990.96Dyskeratosis congenita, autosomal recessive 5615190
RTEL1127.40.990.96Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3616373
SAMHD1149.90.990.98Aicardi-Goutieres syndrome 5612952
SAMHD1149.90.990.98?Chilblain lupus 2614415
SBDS210.40.990.99Shwachman-Diamond syndrome,260400
SBDS210.40.990.99{Aplastic anemia, susceptibility to},609135
SERAC1125.50.980.943-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome,614739
SERPING1103.70.980.94Angioedema, hereditary, types I and II,106100
SERPING1103.70.980.94Complement component 4 partial deficiency of,120790
SH2D1A137.50.90.89Lymphoproliferative syndrome, X-linked, 1308240
SKIV2L26.90.80.57Trichohepatoenteric syndrome 2614602
SLC29A3226.40.990.99Histiocytosis-lymphadenopathy plus syndrome,602782
SLC35A11460.990.97Congenital disorder of glycosylation, type IIf,603585
SLC35C12300.990.97Congenital disorder of glycosylation, type IIc,266265
SLC37A414110.99Glycogen storage disease Ib,232220
SLC37A414110.99Glycogen storage disease Ic,232240
SLC39A488.40.990.96Acrodermatitis enteropathica,201100
SLC46A1105.40.980.94Folate malabsorption, hereditary,229050
SMARCAL1148.210.99Schimke immunoosseous dysplasia,242900
SOCS4303.40.990.97No OMIM phenotype242900
SP110147.20.990.99Hepatic venoocclusive disease with immunodeficiency,235550
SP110147.20.990.99{Mycobacterium tuberculosis, susceptibility to},607948
SPINK5170.10.990.96Atopy,147050
SPINK5170.10.990.96Netherton syndrome,256500
STAT1151.40.970.95Immunodeficiency 31A, mycobacteriosis, autosomal dominant,614892
STAT1151.40.970.95ncy 31B, mycobacterial and viral infections, autosomal recessive,613796
STAT1151.40.970.95Immunodeficiency 31C, autosomal dominant,614162
STAT2126.610.99Immunodeficiency 44616636
STAT31410.990.98Autoimmune disease, multisystem, infantile-onset,615952
STAT31410.990.98Hyper-IgE recurrent infection syndrome,147060
STAT4178.70.990.97{Systemic lupus erythematosus, susceptibility to, 11},612253
STAT5B141.70.990.96Growth hormone insensitivity with immunodeficiency,245590
STAT5B141.70.990.96Leukemia, acute promyelocytic, somatic,102578
STAT6128.110.99No OMIM phenotype102578
STAT6128.110.99{Schistosomiasis infection, association with} (He -2008 Genes Immun 9 195)102578
STAT6128.110.99{Atopic asthma, association with} (Gao -2004 J Med Genet 41,535)102578
STIM1143.10.990.96Immunodeficiency 10612783
STIM1143.10.990.96Myopathy, tubular aggregate, 1160565
STIM1143.10.990.96Stormorken syndrome,185070
STK4161.50.990.98T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations,614868
STX1130311Hemophagocytic lymphohistiocytosis, familial, 4603552
STXBP2134.60.990.98Hemophagocytic lymphohistiocytosis, familial, 5613101
TAP112.30.510.15Bare lymphocyte syndrome, type I,604571
TAP2150.580.25Bare lymphocyte syndrome, type I, due to TAP2 deficiency,604571
TAP2150.580.25Wegener-like granulomatosis604571
TAPBP22.60.80.52Bare lymphocyte syndrome, type I,604571
TAZ126.310.98Barth syndrome,302060
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
TCIRG1125.60.950.88Osteopetrosis, autosomal recessive 1259700
TCN2192.411Transcobalamin II deficiency,275350
TCN2192.411TERC NC NC NC Dyskeratosis congenita, autosomal dominant 1127550
TCN2192.411{Aplastic anemia},614743
TCN2192.411{Pulmonary fibrosis, idiopathic, susceptibility to},614743
TERT148.30.960.91{Dyskeratosis congenita, autosomal dominant 2},613989
TERT148.30.960.91{Dyskeratosis congenita, autosomal recessive 4},613989
TERT148.30.960.91{Leukemia, acute myeloid},601626
TERT148.30.960.91{Melanoma, cutaneous malignant, 9},615134
TERT148.30.960.91{Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1},614742
TFRC177.70.990.99Immunodeficiency 46616740
THBD1230.990.97Thrombophilia due to thrombomodulin defect,614486
THBD1230.990.97{Hemolytic uremic syndrome, atypical, susceptibility to, 6},612926
TICAM1113.20.990.99{Herpes simplex encephalitic, susceptibility to, 6},614850
TINF2196.810.99Dyskeratosis congenita, autosomal dominant 3613990
TINF2196.810.99Revesz syndrome,268130
TLR3189.90.980.97{Herpes simplex encephalitis, susceptibility to, 2}613002
TLR3189.90.980.97{HIV1 infection, resistance to},609423
TLR4147.50.990.98Endotoxin hyporesponsiveness609423
TLR4147.50.990.98{Colorectal cancer, susceptibility to},114500
TLR4147.50.990.98{Macular degeneration, age-related, 10},611488
TMC6880.990.96Epidermodysplasia verruciformis,226400
TMC81190.970.92Epidermodysplasia verruciformis,226400
TMEM173102.70.990.96STING-associated vasculopathy, infantile-onset,615934
TNFRSF11A144.80.930.91Osteolysis, familial expansile,174810
TNFRSF11A144.80.930.91Osteopetrosis, autosomal recessive 7612301
TNFRSF11A144.80.930.91{Paget disease of bone 2 early-onset},602080
TNFRSF13B11510.99Immunodeficiency, common variable, 2240500
TNFRSF13B11510.99Immunoglobulin A deficiency 2609529
TNFRSF13C59.20.930.75Immunodeficiency, common variable, 4613494
TNFRSF1A104.10.910.88Periodic fever, familial,142680
TNFRSF1A104.10.910.88{Multiple sclerosis, susceptibility to, 5},614810
TNFRSF468.30.980.91?Immunodeficiency 16615593
TPP2143.40.980.94No OMIM phenotype615593
TRAF3142.20.990.98{?Herpes simplex encephalitis, susceptibility to, 3},614849
TRAF3IP21350.990.96?Candidiasis, familial, 8615527
TRAF3IP21350.990.96{Psoriasis susceptibility 13},614070
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
TRNT1111.20.950.9Retinitis pigmentosa and erythrocytic microcytosis,616959
TRNT1111.20.950.9Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay,616084
TTC371390.990.97Trichohepatoenteric syndrome 1222470
TTC7A122.30.990.97Gastrointestinal defects and immunodeficiency syndrome,243150
TYK2127.50.990.98Immunodeficiency 35611521
UNC119105.10.970.89?Cone-rod dystrophy611521
UNC119105.10.970.89?Immunodeficiency 13615518
UNC13D104.10.990.97Hemophagocytic lymphohistiocytosis, familial, 3608898
UNC93B171.10.570.54{Herpes simplex encephalitis, susceptibility to, 1},610551
UNG76.60.990.95Immunodeficiency with hyper IgM, type 5608106
USB1144.50.990.97Poikiloderma with neutropenia,604173
VPS13B156.80.980.96Cohen syndrome,216550
VPS45143.40.960.94Neutropenia, severe congenital, 5 autosomal recessive,615285
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
WRAP53164.311Dyskeratosis congenita, autosomal recessive 3613988
XIAP126.20.910.87Lymphoproliferative syndrome, X-linked, 2300635
ZAP70212.40.990.99Autoimmune disease,multisystem,infantile-onset,2,617006
ZAP70212.40.990.99Immunodeficiency 48,26984617006
ZBTB24191.311Immunodeficiency-centromeric instability-facial anomalies syndrome-2,614069

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