qGenEx EV. Panel Patologías de la Vista

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

qGenEx EV, analiza 366 genes asociados a enfermedades de la visión 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 
ABCA4112.810.98Cone-rod dystrophy 3604116
ABCA4112.810.98Fundus flavimaculatus,248200
ABCA4112.810.98Retinal dystrophy, early-onset severe,248200
ABCA4112.810.98Retinitis pigmentosa 19601718
ABCA4112.810.98Stargardt disease 1248200
ABCA4112.810.98{Macular degeneration, age-related, 2},153800
ABCC694.80.930.91Arterial calcification, generalized, of infancy, 2614473
ABCC694.80.930.91Pseudoxanthoma elasticum,264800
ABCC694.80.930.91Pseudoxanthoma elasticum, forme fruste,177850
ABHD1293.70.890.78Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract,612674
ACBD5150.60.960.95No OMIM phenotype612674
ACBD5150.60.960.95Thrombocytopaenia (Punzo -2010 J Thromb Haemost 8,2085)612674
ACBD5150.60.960.95?Cone-rod dystrophy (Abu-Safieh -2013 Genome Res 23,236)612674
ADAM9149.90.980.93Cone-rod dystrophy 9612775
ADAMTS18147.50.980.97Microcornea, myopic chorioretinal atrophy, and telecanthus,615458
ADIPOR188.410.94No OMIM phenotype615458
ADIPOR188.410.94syndromic retinitis pigmentosa (Xy -2016 Hum Mutat 37(3):246-249615458
AGBL1126.511Corneal dystrophy, Fuchs endothelial, 8615523
AGBL598.510.99Retinitis pigmentosa 75,617023
AGK115.10.990.94Cataract 38 autosomal recessive,614691
AGK115.10.990.94Sengers syndrome,212350
AHI11330.990.93Joubert syndrome-3,608629
AIPL1111.611Cone-rod dystrophy,604393
AIPL1111.611Leber congenital amaurosis 4604393
AIPL1111.611Retinitis pigmentosa, juvenile,604393
ALMS1167.80.990.99Alstrom syndrome,203800
AP3B193.90.990.92Hermansky-Pudlak syndrome 2608233
APOPT162.90.870.82Mitochondrial complex IV deficiency,220110
ARL13B78.80.990.81Joubert syndrome 8612291
ARL2BP72.80.780.71Retinitis pigmentosa with or without situs inversus,615434
ARL384.60.930.86No OMIM phenotype615434
ARL384.60.930.86?Retinitis pigmentosa (Strom -2016 PLoS One 11)615434
ARL694.90.990.96Bardet-Biedl syndrome 3600151
ARL694.90.990.96?Retinitis pigmentosa 55613575
ARL694.90.990.96{Bardet-Biedl syndrome 1 modifier of},209900
ASPH110.50.990.94Traboulsi syndrome,601552
ATF6134.810.98Achromatopsia 7616517
B3GALTL100.30.950.94Peters-plus syndrome,261540
BBIP11210.990.87?Bardet-Biedl syndrome 18615995
BBS1133.811Bardet-Biedl syndrome 1209900
BBS10160.210.99Bardet-Biedl syndrome 10615987
BBS12196.311Bardet-Biedl syndrome 12615989
BBS217310.98Bardet-Biedl syndrome 2615981
BBS217310.98Retinitis pigmentosa 74616562
BBS4136.10.990.95Bardet-Biedl syndrome 4615982
BBS5103.30.970.91Bardet-Biedl syndrome 5615983
BBS7121.30.960.9Bardet-Biedl syndrome 7615984
BBS9105.10.940.93Bardet-Biedl syndrome 9615986
BCOR710.980.95Microphthalmia, syndromic 2300166
BEST1111.70.990.96Bestrophinopathy, autosomal recessive,611809
BEST1111.70.990.96Macular dystrophy, vitelliform, 2153700
BEST1111.70.990.96Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma,193220
BEST1111.70.990.96Retinitis pigmentosa, concentric,613194
BEST1111.70.990.96Retinitis pigmentosa-50,613194
BEST1111.70.990.96Vitreoretinochoroidopathy,193220
BFSP190.60.940.89Cataract 33611391
BFSP280.30.980.94Cataract 12 multiple types,611597
BLOC1S338.50.990.84Hermansky-Pudlak syndrome 8614077
BLOC1S689.90.990.84Hermansky-pudlak syndrome 9614171
BMP4120.810.98Microphthalmia, syndromic 6607932
BMP4120.810.98Orofacial cleft 11600625
C10orf11135.80.990.99Albinism, oculocutaneous, type VII,615179
C12orf6574.30.990.97Combined oxidative phosphorylation deficiency 7613559
C12orf6574.30.990.97Spastic paraplegia 55 autosomal recessive,615035
C19orf1278.410.96Neurodegeneration with brain iron accumulation 4614298
C19orf1278.410.96?Spastic paraplegia 43 autosomal recessive,615043
C1QTNF5141.50.780.6Retinal degeneration, late-onset, autosomal dominant,605670
C21orf281.50.990.96No OMIM disease605670
C21orf281.50.990.96Retinal dystrophy,early-onset with macular staphyloma (Khan -2015 Br J Ophtalmol 99,1725)605670
C21orf281.50.990.96Cone-rod dystrophy (Abu-Safieh -2013 Genome Res 23,236)605670
C21orf281.50.990.96Jeune syndrome (Wheway -2015 Nat Cell Biol 17,1074)605670
C2orf71116.910.99Retinitis pigmentosa 54613428
C5orf42119.90.950.91Joubert syndrome 17614615
C5orf42119.90.950.91Orofaciodigital syndrome VI,277170
C8orf37116.710.99Cone-rod dystrophy 16614500
C8orf37116.710.99Retinitis pigmentosa 64614500
CA4133.610.97Retinitis pigmentosa 17600852
CABP490.20.960.92Cone-rod synaptic disorder, congenital nonprogressive,610427
CACNA1F62.70.980.91Aland Island eye disease,300600
CACNA1F62.70.980.91Cone-rod dystrophy, X-linked, 3300476
CACNA1F62.70.980.91Night blindness, congenital stationary (incomplete), 2A, X-linked,300071
CACNA2D4100.40.980.97Retinal cone dystrophy 4610478
CAPN5142.610.99Vitreoretinopathy, neovascular inflammatory,193235
CC2D2A121.80.990.94COACH syndrome,216360
CC2D2A121.80.990.94Joubert syndrome 9612285
CC2D2A121.80.990.94Meckel syndrome 6612284
CCDC41103.80.990.96Nephronophthisis 18615862
CDH2318310.99Deafness, autosomal recessive 12601386
CDH2318310.99Usher syndrome, type 1D,601067
CDH2318310.99Usher syndrome, type 1D/F digenic,601067
CDH3132.210.97Ectodermal dysplasia, ectrodactyly, and macular dystrophy,225280
CDH3132.210.97Hypotrichosis, congenital, with juvenile macular dystrophy,601553
CDHR1141.110.99Cone-rod dystrophy 15613660
CDHR1141.110.99Retinitis pigmentosa 65613660
CEP16475.20.990.94Nephronophthisis 15614845
CEP25084.510.97No OMIM phenotype614845
CEP25084.510.97Usher syndrome,atypical (Khateb -2014 J Med Genet 51,460)614845
CEP25084.510.97?Miscarriage, recurrent (Filges -2014 Mol Hum Reprod epub,epub)614845
CEP29069.50.890.76Joubert syndrome 5610188
CEP29069.50.890.76Leber congenital amaurosis 10611755
CEP29069.50.890.76Meckel syndrome 4611134
CEP29069.50.890.76Senior-Loken syndrome 6610189
CEP29069.50.890.76?Bardet-Biedl syndrome 14615991
CEP4183.40.970.91Joubert syndrome 15614464
CEP78119.30.980.94No OMIM phenotype614464
CEP78119.30.980.94Usher syndrome (Fu et al, -2016 J Med Genet)614464
CERKL108.20.990.95Retinitis pigmentosa 26608380
CFH176.80.980.95Basal laminar drusen,126700
CFH176.80.980.95Complement factor H deficiency,609814
CFH176.80.980.95{Hemolytic uremic syndrome, atypical, susceptibility to, 1},235400
CFH176.80.980.95{Macular degeneration, age-related, 4},610698
CHM66.70.90.77Choroideremia,303100
CHMP4B125.30.990.96Cataract 31 multiple types,605387
CHST628011Macular corneal dystrophy,217800
CIB2188.611Deafness, autosomal recessive 48609439
CIB2188.611Usher syndrome, type IJ,614869
CLN3107.20.990.97Ceroid lipofuscinosis, neuronal, 3204200
CLN5144.80.970.91Ceroid lipofuscinosis, neuronal, 5256731
CLN6119.210.92Ceroid lipofuscinosis, neuronal, 6601780
CLN6119.210.92Ceroid lipofuscinosis, neuronal, Kufs type, adult onset,204300
CLN8206.611Ceroid lipofuscinosis, neuronal, 8600143
CLN8206.611Ceroid lipofuscinosis, neuronal, 8 Northern epilepsy variant,610003
CLRN1141.911Retinitis pigmentosa 61614180
CLRN1141.911Usher syndrome, type 3A,276902
CLUAP1133.111No OMIM phenotype276902
CLUAP1133.111Leber congenital amaurosis (Soens et al, -2016 Genet, Med,)276902
CNGA1128.20.840.84Retinitis pigmentosa 49613756
CNGA3149.80.990.98Achromatopsia-2,216900
CNGB191.50.950.92Retinitis pigmentosa 45613767
CNGB3104.70.910.86Achromatopsia-3,262300
CNGB3104.70.910.86Macular degeneration, juvenile,248200
CNNM4174.30.980.97Jalili syndrome,217080
COL11A185.50.920.83Fibrochondrogenesis 1228520
COL11A185.50.920.83Marshall syndrome,154780
COL11A185.50.920.83Stickler syndrome, type II,604841
COL11A185.50.920.83{Lumbar disc herniation, susceptibility to},603932
COL11A210.90.460.09Deafness, autosomal dominant 13601868
COL11A210.90.460.09Deafness, autosomal recessive 53609706
COL11A210.90.460.09Fibrochondrogenesis 2614524
COL11A210.90.460.09Otospondylomegaepiphyseal dysplasia,215150
COL11A210.90.460.09Stickler syndrome, type III,184840
COL11A210.90.460.09Weissenbacher-Zweymuller syndrome,277610
COL18A166.80.90.83Knobloch syndrome, type 1267750
COL2A193.50.990.96Achondrogenesis, type II or hypochondrogenesis,200610
COL2A193.50.990.96Avascular necrosis of the femoral head,608805
COL2A193.50.990.96Czech dysplasia,609162
COL2A193.50.990.96Epiphyseal dysplasia, multiple, with myopia and deafness,132450
COL2A193.50.990.96Kniest dysplasia,156550
COL2A193.50.990.96Legg-Calve-Perthes disease,150600
COL2A193.50.990.96Osteoarthritis with mild chondrodysplasia,604864
COL2A193.50.990.96Otospondylomegaepiphyseal dysplasia,215150
COL2A193.50.990.96Platyspondylic skeletal dysplasia, Torrance type,151210
COL2A193.50.990.96SED congenita,183900
COL2A193.50.990.96SMED Strudwick type,184250
COL2A193.50.990.96Spondyloepiphyseal dysplasia, Stanescu type,616583
COL2A193.50.990.96Spondyloperipheral dysplasia,271700
COL2A193.50.990.96Stickler sydrome, type I, nonsyndromic ocular,609508
COL2A193.50.990.96Stickler syndrome, type I,108300
COL2A193.50.990.96Vitreoretinopathy with phalangeal epiphyseal dysplasia108300
COL8A221.80.760.53Corneal dystrophy, Fuchs endothelial, 1136800
COL8A221.80.760.53Corneal dystrophy, posterior polymorphous 2609140
COL9A1107.60.990.95Stickler syndrome, type IV,614134
COL9A1107.60.990.95/?Epiphyseal dysplasia, multiple, 6614135
COL9A255.50.980.86Epiphyseal dysplasia, multiple, 2600204
COL9A255.50.980.86?Stickler syndrome, type V,614284
COL9A255.50.980.86{Intervertebral disc disease, susceptibility to},603932
CRB1199.910.99Leber congenital amaurosis 8613835
CRB1199.910.99Pigmented paravenous chorioretinal atrophy,172870
CRB1199.910.99Retinitis pigmentosa-12, autosomal recessive,600105
CRX91.410.98Cone-rod retinal dystrophy-2,120970
CRX91.410.98Leber congenital amaurosis 7613829
CRYAA121.60.840.82Cataract 9 multiple types,604219
CRYAB120.20.970.95Cardiomyopathy, dilated, 1II,615184
CRYAB120.20.970.95Cataract 16 multiple types,613763
CRYAB120.20.970.95Myopathy, myofibrillar, 2608810
CRYAB120.20.970.95Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related,613869
CRYBA1130.811Cataract 10 multiple types,600881
CRYBA212611?Cataract 42115900
CRYBA498.410.97Cataract 23610425
CRYBB1108.310.99Cataract 17 multiple types,611544
CRYBB215211Cataract 3 multiple types,601547
CRYBB3134.110.98Cataract 22 autosomal recessive,609741
CRYGB9510.95Cataract 39 multiple types, autosomal dominant,615188
CRYGC114.111Cataract 2 multiple types,604307
CRYGD8911Cataract 4 multiple types,115700
CRYGS130.90.950.91Cataract 20 multiple types,116100
CSPP199.30.990.92Joubert syndrome 21615636
CTDP193.20.90.85Congenital cataracts, facial dysmorphism, and neuropathy,604168
CTNNA1127.110.98Macular dystrophy,patterned,608970
CTNNA1127.110.98Gastric cancer, diffuse (Majewski -2012 J Pathol epub)608970
CTSD152.80.980.94Ceroid lipofuscinosis, neuronal, 10610127
CYP1B1106.310.99Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset,231300
CYP1B1106.310.99Peters anomaly,604229
CYP4V215710.98Bietti crystalline corneoretinal dystrophy,210370
DCN141.10.950.94Corneal dystrophy, congenital stromal,610048
DFNB31102.810.97Deafness, autosomal recessive 31607084
DFNB31102.810.97Usher syndrome, type 2D,611383
DHDDS84.70.950.93Retinitis pigmentosa 59613861
DHX38122.810.98No OMIM phenotype613861
DHX38122.810.98Retinitis pigmentosa,early-onset with macular coloboma (Ajmal -2014 J Med Genet 51,444)613861
DKC177.40.990.92Dyskeratosis congenita, X-linked,305000
DRAM2144.911Cone-rod dystrophy 21616502
DTNBP1100.510.95Hermansky-Pudlak syndrome 7614076
EFEMP1176.810.98Doyne honeycomb degeneration of retina,126600
ELOVL477.510.98Ichthyosis, spastic quadriplegia, and mental retardation,614457
ELOVL477.510.98Stargardt disease 3600110
ELOVL477.510.98?Spinocerebellar ataxia 34133190
EPG5123.60.990.94Vici syndrome,242840
EPHA2170.60.970.97Cataract 6 multiple types,116600
EXOSC2135.811No OMIM phenotype116600
EXOSC2135.811Syndromic retinitis pigmentosa (Di Donato -2016 J Med Genet 53,419)116600
EYA1139.110.99Anterior segment anomalies with or without cataract,113650
EYA1139.110.99Branchiootic syndrome 1602588
EYA1139.110.99Branchiootorenal syndrome 1 with or without cataracts,113650
EYA1139.110.99?Otofaciocervical syndrome,166780
EYS143.40.980.94Retinitis pigmentosa 25602772
FA2H87.60.930.81Spastic paraplegia 35 autosomal recessive,612319
FAM161A110.40.990.93Retinitis pigmentosa 28606068
FLVCR1121.40.990.97Ataxia, posterior column, with retinitis pigmentosa,609033
FOXC131.10.950.72Axenfeld-Rieger syndrome, type 3602482
FOXC131.10.950.72Iridogoniodysgenesis, type 1601631
FOXC131.10.950.72Iris hypoplasia and glaucoma,601631
FOXC131.10.950.72Rieger or Axenfeld anomalies,602482
FOXE39.30.490.33Anterior segment mesenchymal dysgenesis,107250
FOXE39.30.490.33Aphakia, congenital primary,610256
FRMD779.40.990.93Nystagmus 1 congenital, X-linked,310700
FRMD779.40.990.93Nystagmus, infantile periodic alternating, X-linked,310700
FTL104.50.990.82Hyperferritinemia-cataract syndrome,600886
FTL104.50.990.82L-ferritin deficiency, dominant and recessive,615604
FTL104.50.990.82Neurodegeneration with brain iron accumulation 3606159
FYCO1114.310.99Cataract 18 autosomal recessive,610019
FZD4207.110.98Exudative vitreoretinopathy 1133780
FZD4207.110.98Retinopathy of prematurity,133780
GALK188.70.960.91Galactokinase deficiency with cataracts,230200
GALT141.510.99Galactosemia,230400
GCNT2164.911Adult i phenotype without cataract,110800
GCNT2164.911Cataract 13 with adult i phenotype,116700
GCNT2164.911[Blood group, Ii],110800
GDF3119.611Klippel-Feil syndrome 3 autosomal dominant,613702
GDF3119.611Microphthalmia with coloboma 6613703
GDF3119.611Microphthalmia, isolated 7613704
GDF656.80.930.82Klippel-Feil syndrome 1 autosomal dominant,118100
GDF656.80.930.82Leber congenital amaurosis 17615360
GDF656.80.930.82Microphthalmia with coloboma 6 digenic,613703
GDF656.80.930.82Microphthalmia, isolated 4613094
GFER69.70.980.71Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613094
GFER69.70.980.71Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076
GJA1205.311Atrioventricular septal defect 3600309
GJA1205.311Craniometaphyseal dysplasia, autosomal recessive,218400
GJA1205.311Erythrokeratodermia variabilis et progressiva,133200
GJA1205.311Hypoplastic left heart syndrome 1241550
GJA1205.311Oculodentodigital dysplasia,164200
GJA1205.311Oculodentodigital dysplasia, autosomal recessive,257850
GJA1205.311Palmoplantar keratoderma with congenital alopecia,104100
GJA1205.311Syndactyly, type III,186100
GJA3152.311Cataract 14 multiple types,601885
GJA8136.511Cataract 1 multiple types,116200
GNAT1153.111Night blindness, congenital stationary, autosomal dominant 3610444
GNAT1153.111?Night blindness, congenital stationary, type 1G,616389
GNAT2142.910.98Achromatopsia-4,613856
GNB3193.211Night blindness, congenital stationary, type 1H,617024
GNB3193.211{Hypertension, essential, susceptibility to},145500
GNPTG125.20.90.87Mucolipidosis III gamma,252605
GPR14339.90.90.67Nystagmus 6 congenital, X-linked,300814
GPR14339.90.90.67Ocular albinism, type I, Nettleship-Falls type,300500
GPR179119.310.97Night blindness, congenital stationary (complete), 1E, autosomal recessive,614565
GPR98145.80.990.94Usher syndrome, type 2C,605472
GPR98145.80.990.94Usher syndrome, type 2C, GPR98/PDZD7 digenic,605472
GPR98145.80.990.94?Febrile seizures, familial, 4604352
GRK1100.111Oguchi disease-2,613411
GRM6139.70.930.83Night blindness, congenital stationary (complete), 1B, autosomal recessive,257270
GRN171.511Aphasia, primary progressive,607485
GRN171.511Ceroid lipofuscinosis, neuronal, 11614706
GRN171.511Frontotemporal lobar degeneration with ubiquitin-positive inclusions,607485
GSN1090.910.87Amyloidosis, Finnish type,105120
GUCA1A147.411Cone dystrophy-3,602093
GUCA1A147.411Cone-rod dystrophy 14602093
GUCA1B130.110.98Retinitis pigmentosa 48613827
GUCY2D79.90.960.84Cone-rod dystrophy 6601777
GUCY2D79.90.960.84Leber congenital amaurosis 1204000
HARS143.611Charcot-Marie-Tooth disease, axonal, type 2W,616625
HARS143.611Usher syndrome type 3B,614504
HCCS63.80.990.92Linear skin defects with multiple congenital anomalies 1309801
HGSNAT950.810.81Mucopolysaccharidosis type IIIC (Sanfilippo C),252930
HGSNAT950.810.81Retinitis pigmentosa 73616544
HK1134.810.99Hemolytic anemia due to hexokinase deficiency,235700
HK1134.810.99Neuropathy, hereditary motor and sensory, Russe type,605285
HK1134.810.99Retinitis pigmentosa (Wang -2014 Invest Ophthalmol Vis Sci 55,7159)605285
HMX119.60.630.39Oculoauricular syndrome,612109
HPS1102.910.98Hermansky-Pudlak syndrome 1203300
HPS4130.410.98Hermansky-Pudlak syndrome 4614073
HPS5137.70.990.98Hermansky-Pudlak syndrome 5614074
HPS6100.410.92Hermansky-Pudlak syndrome 6614075
HSF489.40.960.87Cataract 5 multiple types,116800
IDH3B166.611Retinitis pigmentosa 46612572
IFT140105.20.990.96Short-rib thoracic dysplasia 9 with or without polydactyly,266920
IFT172108.60.990.97Retinitis pigmentosa 71616394
IFT172108.60.990.97Short-rib thoracic dysplasia 10 with or without polydactyly,615630
IFT27106.410.99?Bardet-Biedl syndrome 19615996
IMPDH147.60.910.74Leber congenital amaurosis 11613837
IMPDH147.60.910.74Retinitis pigmentosa 10180105
IMPG198.910.95Macular dystrophy, vitelliform, 4616151
IMPG2166.810.97Macular dystrophy, vitelliform, 5616152
IMPG2166.810.97Retinitis pigmentosa 56613581
INPP5E83.90.960.88Joubert syndrome 1213300
INPP5E83.90.960.88Mental retardation, truncal obesity, retinal dystrophy, and micropenis,610156
INVS153.410.99Nephronophthisis 2 infantile,602088
IQCB196.90.780.74Senior-Loken syndrome 5609254
JAG1139.810.97Alagille syndrome,118450
JAG1139.810.97Tetralogy of Fallot,187500
JAG1139.810.97?Deafness, congenital heart defects, and posterior embryotoxon187500
JAM3136.410.99Hemorrhagic destruction of the brain, subependymal calcification, and cataracts,613730
KCNJ1319410.98Leber congenital amaurosis 16614186
KCNJ1319410.98Snowflake vitreoretinal degeneration,193230
KCNV212011Retinal cone dystrophy 3B,610356
KERA185.911Cornea plana congenita, recessive,217300
KIF1176.60.970.95Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation,152950
KIF7700.910.84Acrocallosal syndrome,200990
KIF7700.910.84Joubert syndrome 12200990
KIF7700.910.84?Al-Gazali-Bakalinova syndrome,607131
KIF7700.910.84?Hydrolethalus syndrome 2614120
KIZ150.40.980.94Retinitis pigmentosa 69615780
KLHL7139.10.990.98Cold induced sweating syndrome 3617055
KLHL7139.10.990.98Retinitis pigmentosa 42612943
KRT12880.950.92Meesmann corneal dystrophy,122100
KRT390.910.96Meesmann corneal dystrophy,122100
LAMA1134.20.990.98Poretti-Boltshauser syndrome,615960
LCA51300.950.94Leber congenital amaurosis 5604537
LEMD260.20.990.75Cataract 46 juvenile-onset,212500
LEPREL187.80.930.87Myopia, high, with cataract and vitreoretinal degeneration,614292
LIM288.410.99Cataract 19 multiple types,615277
LRAT285.311Leber congenital amaurosis 14613341
LRAT285.311Retinal dystrophy, early-onset severe,613341
LRAT285.311Retinitis pigmentosa, juvenile,613341
LRIT3148.40.940.93Night blindness, congenital stationary (complete), 1F, autosomal recessive,615058
LRP5165.50.980.96Exudative vitreoretinopathy 4601813
LRP5165.50.980.96Hyperostosis, endosteal,144750
LRP5165.50.980.96Osteopetrosis, autosomal dominant 1607634
LRP5165.50.980.96Osteoporosis-pseudoglioma syndrome,259770
LRP5165.50.980.96Osteosclerosis,144750
LRP5165.50.980.96van Buchem disease, type 2607636
LRP5165.50.980.96[Bone mineral density variability 1],601884
LRP5165.50.980.96{Osteoporosis},166710
LSS108.710.98Cataract 44616509
LYST129.60.970.92Chediak-Higashi syndrome,214500
LZTFL1121.20.980.9Bardet-Biedl syndrome 17615994
MAB21L221011Microphthalmia, syndromic 14615877
MAF51.80.750.72Ayme-Gripp syndrome,601088
MAF51.80.750.72Cataract 21 multiple types,610202
MAK146.60.940.93Retinitis pigmentosa 62614181
MAPKAPK376.90.980.95No OMIM phenotype614181
MAPKAPK376.90.980.95Martinique crinkled retinal pigment epitheliopathy (Meunier -2016 Hum Mol Gene 25,916)614181
MERTK162.210.99Retinitis pigmentosa 38613862
MFN213811Charcot-Marie-Tooth disease, type 2A2,609260
MFN213811Hereditary motor and sensory neuropathy VIA,601152
MFRP117.511Microphthalmia, isolated 5611040
MFRP117.511Nanophthalmos 2609549
MFSD8120.910.98Ceroid lipofuscinosis, neuronal, 7610951
MFSD8120.910.98Macular dystrophy with central cone involvement,616170
MIP104.30.940.87Cataract 15 multiple types,615274
MIP104.30.940.87MIR184 NC NC NC EDICT syndrome,614303
MITF134.311Tietz albinism-deafness syndrome,103500
MITF134.311Waardenburg syndrome, type 2A,193510
MITF134.311Waardenburg syndrome/ocular albinism, digenic,103470
MITF134.311{Melanoma, cutaneous malignant, susceptibility to, 8},614456
MKKS222.10.890.89Bardet-Biedl syndrome 6605231
MKKS222.10.890.89McKusick-Kaufman syndrome,236700
MKS195.90.990.96Bardet-Biedl syndrome 13615990
MKS195.90.990.96Meckel syndrome 1249000
MVK126.311Hyper-IgD syndrome,260920
MVK126.311Mevalonic aciduria,610377
MVK126.311Porokeratosis 3 multiple types,175900
MYO7A1270.980.95Deafness, autosomal dominant 11601317
MYO7A1270.980.95Deafness, autosomal recessive 2600060
MYO7A1270.980.95Usher syndrome, type 1B,276900
MYOC171.911Glaucoma 1A, primary open angle,137750
NAA105810.91Ogden syndrome,300855
NAA105810.91?Microphthalmia, syndromic 1309800
NBAS134.10.990.97Infantile liver failure syndrome 2616483
NBAS134.10.990.97Short stature, optic nerve atrophy, and Pelger-Huet anomaly,614800
NDP80.311Exudative vitreoretinopathy 2 X-linked,305390
NDP80.311Norrie disease,310600
NEK281.60.950.86?Retinitis pigmentosa 67615565
NEUROD1153.611Maturity-onset diabetes of the young 6606394
NEUROD1153.611{Diabetes mellitus, noninsulin-dependent},125853
NEUROD1153.611Retinitis pigmentosa, autosomal recessive (Wang -2015 Invest Ophthalmol Vis Sci 56,150)125853
NHS83.70.930.88Cataract 40 X-linked,302200
NHS83.70.930.88Nance-Horan syndrome,302350
NMNAT1128.710.99Leber congenital amaurosis 9608553
NPHP11220.990.94Joubert syndrome 4609583
NPHP11220.990.94Nephronophthisis 1 juvenile,256100
NPHP11220.990.94Senior-Loken syndrome-1,266900
NPHP3111.40.980.91Meckel syndrome 7267010
NPHP3111.40.980.91Nephronophthisis 3604387
NPHP3111.40.980.91Renal-hepatic-pancreatic dysplasia 1208540
NPHP4127.50.990.97Nephronophthisis 4606966
NPHP4127.50.990.97Senior-Loken syndrome 4606996
NR2E395.911Enhanced S-cone syndrome,268100
NR2E395.911Retinitis pigmentosa 37611131
NR2F1182.20.990.92Bosch-Boonstra-Schaaf optic atrophy syndrome,615722
NRL61.10.980.86Retinal degeneration, autosomal recessive, clumped pigment type615722
NRL61.10.980.86Retinitis pigmentosa 27613750
NYX50.70.960.95Night blindness, congenital stationary (complete), 1A, X-linked,310500
OAT73.60.680.61Gyrate atrophy of choroid and retina with or without ornithinemia,258870
OCA2126.10.970.95Albinism, brown oculocutaneous,203200
OCA2126.10.970.95Albinism, oculocutaneous, type II,203200
OCA2126.10.970.95[Skin/hair/eye pigmentation 1 blond/brown hair],227220
OCA2126.10.970.95[Skin/hair/eye pigmentation 1 blue/nonblue eyes],227220
OFD129.60.740.53Joubert syndrome 10300804
OFD129.60.740.53Orofaciodigital syndrome I,311200
OFD129.60.740.53Simpson-Golabi-Behmel syndrome, type 2300209
OFD129.60.740.53?Retinitis pigmentosa 23300424
OPA1115.40.980.89Behr syndrome,210000
OPA1115.40.980.89Optic atrophy 1165500
OPA1115.40.980.89Optic atrophy plus syndrome,125250
OPA1115.40.980.89?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type),616896
OPA1115.40.980.89{Glaucoma, normal tension, susceptibility to},606657
OPA389.20.990.933-methylglutaconic aciduria, type III,258501
OPA389.20.990.93Optic atrophy 3 with cataract,165300
OPN1LW48.90.660.44Blue cone monochromacy,303700
OPN1LW48.90.660.44Colorblindness, protan,303900
OPN1MW64.30.650.5Blue cone monochromacy,303700
OPN1MW64.30.650.5Colorblindness, deutan,303800
OTX2116.210.97Microphthalmia, syndromic 5610125
OTX2116.210.97Pituitary hormone deficiency, combined, 6613986
OTX2116.210.97Retinal dystrophy, early-onset, with or without pituitary dysfunction,610125
PANK2142.90.950.86HARP syndrome,607236
PANK2142.90.950.86Neurodegeneration with brain iron accumulation 1234200
PAX2148.610.99Glomerulosclerosis, focal segmental, 7616002
PAX2148.610.99Papillorenal syndrome,120330
PAX6129.311Aniridia,106210
PAX6129.311Cataract with late-onset corneal dystrophy,106210
PAX6129.311Coloboma of optic nerve,120430
PAX6129.311Coloboma, ocular,120200
PAX6129.311Foveal hypoplasia 1136520
PAX6129.311Keratitis,148190
PAX6129.311Optic nerve hypoplasia,165550
PAX6129.311Peters anomaly,604229
PAX6129.311?Morning glory disc anomaly,120430
PCDH15164.20.990.98Deafness, autosomal recessive 23609533
PCDH15164.20.990.98Usher syndrome, type 1D/F digenic,601067
PCDH15164.20.990.98Usher syndrome, type 1F,602083
PCYT1A123.10.970.94Spondylometaphyseal dysplasia with cone-rod dystrophy,608940
PDE6A120.310.99Retinitis pigmentosa 43613810
PDE6B136.810.99Night blindness, congenital stationary, autosomal dominant 2163500
PDE6B136.810.99Retinitis pigmentosa-40,613801
PDE6C131.50.960.94Cone dystrophy 4613093
PDE6D93.911?Joubert syndrome 22615665
PDE6G85.30.990.94Retinitis pigmentosa 57613582
PDE6H58.10.510.48Achromatopsia 6610024
PDE6H58.10.510.48Retinal cone dystrophy 3610024
PDZD777.710.89Usher syndrome, type IIC, GPR98/PDZD7 digenic,605472
PDZD777.710.89{Retinal disease in Usher syndrome type IIA, modifier of},276901
PET100110.50.890.72Mitochondrial complex IV deficiency,220110
PEX1106.90.970.97Heimler syndrome 1234580
PEX1106.90.970.97Peroxisome biogenesis disorder 1A (Zellweger),214100
PEX1106.90.970.97Peroxisome biogenesis disorder 1B (NALD/IRD),601539
PEX2147.611Peroxisome biogenesis disorder 5A (Zellweger),614866
PEX2147.611Peroxisome biogenesis disorder 5B,614867
PEX7121.40.910.82Peroxisome biogenesis disorder 9B,614879
PEX7121.40.910.82Rhizomelic chondrodysplasia punctata, type 1215100
PGK135.10.80.65Phosphoglycerate kinase 1 deficiency,300653
PHYH87.50.970.92Refsum disease,266500
PIKFYVE137.70.990.98Corneal fleck dystrophy,121850
PITX2128.10.960.93Axenfeld-Rieger syndrome, type 1180500
PITX2128.10.960.93Iridogoniodysgenesis, type 2137600
PITX2128.10.960.93Peters anomaly,604229
PITX2128.10.960.93Ring dermoid of cornea,180550
PITX35610.92Anterior segment mesenchymal dysgenesis,107250
PITX35610.92Cataract 11 multiple types,610623
PITX35610.92Cataract 11 syndromic,610623
PLA2G5117.511[Fleck retina, familial benign],228980
PLK4135.20.990.86Microcephaly and chorioretinopathy, autosomal recessive, 2616171
PNPLA6111.20.990.97Boucher-Neuhauser syndrome,215470
PNPLA6111.20.990.97Oliver-McFarlane syndrome,275400
PNPLA6111.20.990.97Spastic paraplegia 39 autosomal recessive,612020
PNPLA6111.20.990.97?Laurence-Moon syndrome,245800
POC1B93.50.920.9Cone-rod dystrophy 20615973
POMGNT110710.95Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3253280
POMGNT110710.95Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3613151
POMGNT110710.95Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3613157
PPT1150.611Ceroid lipofuscinosis, neuronal, 1256730
PRCD89.111Retinitis pigmentosa 36610599
PROM1112.90.960.93Cone-rod dystrophy 12612657
PROM1112.90.960.93Macular dystrophy, retinal, 2608051
PROM1112.90.960.93Retinitis pigmentosa 41612095
PROM1112.90.960.93Stargardt disease 4603786
PRPF373.30.980.91Retinitis pigmentosa 18601414
PRPF3199.110.93Retinitis pigmentosa 11600138
PRPF4137.20.990.98Retinitis pigmentosa 70615922
PRPF6114.110.99Retinitis pigmentosa 60613983
PRPF8132.410.99Retinitis pigmentosa 13600059
PRPH2209.910.98Choriodal dystrophy, central areolar 2613105
PRPH2209.910.98Leber congenital amaurosis 18608133
PRPH2209.910.98Macular dystrophy, patterned, 1169150
PRPH2209.910.98Macular dystrophy, vitelliform, 3608161
PRPH2209.910.98Retinitis pigmentosa 7 and digenic,608133
PRPH2209.910.98Retinitis punctata albescens,136880
PRSS5638.90.930.73Microphthalmia, isolated 6613517
PXDN153.80.990.97Corneal opacification and other ocular anomalies,269400
RAB2850.60.930.77Cone-rod dystrophy 18615374
RARB124.511Microphthalmia, syndromic 12615524
RAX245.50.90.69?Macular degeneration, age-related, 6613757
RAX245.50.90.69Cone-rod dystrophy 11610381
RBP312810.99?Retinitis pigmentosa 66615233
RBP4870.930.91Microphthalmia, isolated, with coloboma 10616428
RBP4870.930.91Retinal dystrophy, iris coloboma, and comedogenic acne syndrome,615147
RCBTB1116.90.990.98[Beta-glycopyranoside tasting]615147
RCBTB1116.90.990.98{Alcohol dependence, susceptibility to},103780
RD3136.911Leber congenital amaurosis 12610612
RDH11125.610.97?Retinal dystrophy, juvenile cataracts, and short stature syndrome,616108
RDH1287.60.970.83Leber congenital amaurosis 13612712
RDH514411Fundus albipunctatus,136880
RGR123.511Retinitis pigmentosa 44613769
RGS994.310.99Bradyopsia,608415
RGS9BP5910.97Bradyopsia,608415
RHO224.611Night blindness, congenital stationary, autosomal dominant 1610445
RHO224.611Retinitis pigmentosa 4 autosomal dominant or recessive,613731
RHO224.611Retinitis punctata albescens,136880
RIMS1113.50.960.93Cone-rod dystrophy 7603649
RLBP1127.911Bothnia retinal dystrophy,607475
RLBP1127.911Fundus albipunctatus,136880
RLBP1127.911Newfoundland rod-cone dystrophy,607476
RLBP1127.911Retinitis punctata albescens,136880
ROM197.710.98Retinitis pigmentosa 7 digenic,608133
RP1123.70.990.96Retinitis pigmentosa 1180100
RP1L181.710.98Occult macular dystrophy,613587
RP2117.210.98Retinitis pigmentosa 2312600
RP9460.770.77?Retinitis pigmentosa 9180104
RPE65138.610.99Leber congenital amaurosis 2204100
RPE65138.610.99Retinitis pigmentosa 20613794
RPGR59.20.810.66Cone-rod dystrophy, X-linked, 1304020
RPGR59.20.810.66Macular degeneration, X-linked atrophic,300834
RPGR59.20.810.66Retinitis pigmentosa 3300029
RPGR59.20.810.66Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness,300455
RPGRIP1145.210.99Cone-rod dystrophy 13608194
RPGRIP1145.210.99Leber congenital amaurosis 6613826
RPGRIP1L133.20.950.93COACH syndrome,216360
RPGRIP1L133.20.950.93Joubert syndrome 7611560
RPGRIP1L133.20.950.93Meckel syndrome 5611561
RS132.20.830.72Retinoschisis,312700
RTN4IP194.810.97Optic atrophy 10 with or without ataxia, mental retardation, and seizures,616732
SAG126.211Oguchi disease-1,258100
SAG126.211Retinitis pigmentosa 47613758
SDCCAG8116.710.96Bardet-Biedl syndrome 16615993
SDCCAG8116.710.96Senior-Loken syndrome 7613615
SEMA4A118.910.97Cone-rod dystrophy 10610283
SEMA4A118.910.97Retinitis pigmentosa 35610282
SHH84.80.950.91Holoprosencephaly-3,142945
SHH84.80.950.91Microphthalmia with coloboma 5611638
SHH84.80.950.91Schizencephaly,269160
SHH84.80.950.91Single median maxillary central incisor,147250
SIPA1L3121.90.980.96?Cataract 45616851
SIX6180.411Optic disc anomalies with retinal and/or macular dystrophy,212550
SLC16A12167.611Cataract, juvenile, with microcornea and glucosuria,612018
SLC24A1199.410.99Night blindness, congenital stationary (complete), 1D, autosomal recessive,613830
SLC24A5119.90.950.93Albinism, oculocutaneous, type VI,113750
SLC24A5119.90.950.93[Skin/hair/eye pigmentation 4 fair/dark skin],113750
SLC25A46175.20.960.94Neuropathy, hereditary motor and sensory, type VIB,616505
SLC33A1133.80.980.89Congenital cataracts, hearing loss, and neurodegeneration,614482
SLC33A1133.80.980.89Spastic paraplegia 42 autosomal dominant,612539
SLC38A87410.93Foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis,612539
SLC38A87410.93Foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis,609218
SLC45A2128.110.98Albinism, oculocutaneous, type IV,606574
SLC45A2128.110.98[Skin/hair/eye pigmentation 5 black/nonblack hair],227240
SLC45A2128.110.98[Skin/hair/eye pigmentation 5 dark/fair skin],227240
SLC45A2128.110.98[Skin/hair/eye pigmentation 5 dark/light eyes],227240
SLC4A11133.310.99Corneal dystrophy, Fuchs endothelial, 4613268
SLC4A11133.310.99Corneal endothelial dystrophy 2 autosomal recessive,217700
SLC4A11133.310.99Corneal endothelial dystrophy and perceptive deafness,217400
SLC52A216811Brown-Vialetto-Van Laere syndrome 2614707
SLC7A14179.511Retinitis pigmentosa 68615725
SNRNP200144.910.98Retinitis pigmentosa 33610359
SOX280.80.990.96Microphthalmia, syndromic 3206900
SOX280.80.990.96Optic nerve hypoplasia and abnormalities of the central nervous system,206900
SPATA71280.960.86Leber congenital amaurosis 3604232
SPATA71280.960.86Retinitis pigmentosa, juvenile, autosomal recessive,604232
SPP2155.511No OMIM phenotype604232
SPP2155.511Retinitis pigmentosa (Li -2015 Sci Rep 5,14867)604232
SPP2155.511?Autism (Neale -2012 Nature 485,242)604232
STRA6105.611Microphthalmia, isolated, with coloboma 8601186
STRA6105.611Microphthalmia, syndromic 9601186
TACSTD2176.20.990.97Corneal dystrophy, gelatinous drop-like,204870
TCTN198.80.940.92Joubert syndrome 13614173
TCTN3116.30.990.98Joubert syndrome 18614815
TCTN3116.30.990.98Orofaciodigital syndrome IV,258860
TDRD7170.60.980.97Cataract 36613887
TEAD1161.410.96Sveinsson choreoretinal atrophy,108985
TENM3185.50.990.98Microphthalmia, isolated, with coloboma 9615145
TGFBI121.810.92Corneal dystrophy, Avellino type,607541
TGFBI121.810.92Corneal dystrophy, epithelial basement membrane,121820
TGFBI121.810.92Corneal dystrophy, Groenouw type I,121900
TGFBI121.810.92Corneal dystrophy, lattice type I,122200
TGFBI121.810.92Corneal dystrophy, lattice type IIIA,608471
TGFBI121.810.92Corneal dystrophy, Reis-Bucklers type,608470
TGFBI121.810.92Corneal dystrophy, Thiel-Behnke type,602082
TIMM8A17.50.640.3Jensen syndrome,311150
TIMM8A17.50.640.3Mohr-Tranebjaerg syndrome,304700
TIMP3160.311Sorsby fundus dystrophy,136900
TMEM126A108.60.990.91Optic atrophy 7612989
TMEM138102.70.990.97Joubert syndrome 16614465
TMEM23186.10.990.95Joubert syndrome 20614970
TMEM23186.10.990.95Meckel syndrome 11615397
TMEM23796.10.990.97Joubert syndrome 14614424
TMEM6770.30.910.84COACH syndrome,216360
TMEM6770.30.910.84Joubert syndrome 6610688
TMEM6770.30.910.84Meckel syndrome 3607361
TMEM6770.30.910.84Nephronophthisis 11613550
TMEM6770.30.910.84{Bardet-Biedl syndrome 14 modifier of},615991
TOPORS234.811Retinitis pigmentosa 31609923
TPP112411Ceroid lipofuscinosis, neuronal, 2204500
TPP112411Spinocerebellar ataxia, autosomal recessive 7609270
TRAF3IP171.50.920.9Senior-Loken syndrome 9616629
TREX1214.311Aicardi-Goutieres syndrome 1 dominant and recessive,225750
TREX1214.311Chilblain lupus,610448
TREX1214.311Vasculopathy, retinal, with cerebral leukodystrophy,192315
TREX1214.311{Systemic lupus erythematosus, susceptibility to},152700
TRIM32134.211Muscular dystrophy, limb-girdle, type 2H,254110
TRIM32134.211?Bardet-Biedl syndrome 11615988
TRNT193.10.950.91Retinitis pigmentosa and erythrocytic microcytosis,616959
TRNT193.10.950.91Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay,616084
TRPM1161.410.98Night blindness, congenital stationary (complete), 1C, autosomal recessive,613216
TSPAN12135.910.98Exudative vitreoretinopathy 5613310
TTC888.40.980.88Bardet-Biedl syndrome 8615985
TTC888.40.980.88?Retinitis pigmentosa 51613464
TTLL5149.610.96Cone-rod dystrophy 19615860
TUB91.60.990.94?Retinal dystrophy and obesity,616188
TUBGCP4135.50.980.95Microcephaly and chorioretinopathy, autosomal recessive, 3616335
TULP188.60.980.93Leber congenital amaurosis 15613843
TULP188.60.980.93Retinitis pigmentosa 14600132
TYR189.711Albinism, oculocutaneous, type IA,203100
TYR189.711Albinism, oculocutaneous, type IB,606952
TYR189.711Waardenburg syndrome/albinism, digenic,103470
TYR189.711[Skin/hair/eye pigmentation 3 blue/green eyes],601800
TYR189.711[Skin/hair/eye pigmentation 3 light/dark/freckling skin],601800
TYR189.711{Melanoma, cutaneous malignant, susceptibility to, 8},601800
TYRP1190.111Albinism, oculocutaneous, type III,203290
TYRP1190.111[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)],612271
UBIAD1225.90.980.93Corneal dystrophy, Schnyder type,121800
UNC11991.10.980.72?Cone-rod dystrophy121800
UNC11991.10.980.72?Immunodeficiency 13615518
UNC45B116.510.98?Cataract 43616279
USH1C99.10.980.95Deafness, autosomal recessive 18A,602092
USH1C99.10.980.95Usher syndrome, type 1C,276904
USH1G153.60.950.93Usher syndrome, type 1G,606943
USH2A156.80.990.98Retinitis pigmentosa 39613809
USH2A156.80.990.98Usher syndrome, type 2A,276901
VAX144.70.870.7?Microphthalmia, syndromic 11614402
VCAN185.911Wagner syndrome 1143200
VIM11710.93?Cataract 30 pulverulent,116300
VSX154.90.910.73Keratoconus 1148300
VSX154.90.910.73?Craniofacial anomalies and anterior segment dysgenesis syndrome,614195
VSX267.60.980.88Microphthalmia with coloboma 3610092
VSX267.60.980.88Microphthalmia, isolated 2610093
WDPCP107.10.940.93?Bardet-Biedl syndrome 15615992
WDPCP107.10.940.93?Congenital heart defects, hamartomas of tongue, and polysyndactyly,217085
WDR19133.510.98Nephronophthisis 13614377
WDR19133.510.98Senior-Loken syndrome 8616307
WDR19133.510.98?Cranioectodermal dysplasia 4614378
WDR19133.510.98?Short-rib thoracic dysplasia 5 with or without polydactyly,614376
WFS1218.60.980.97Deafness, autosomal dominant 6/14/38,600965
WFS1218.60.980.97Wolfram syndrome,222300
WFS1218.60.980.97Wolfram-like syndrome, autosomal dominant,614296
WFS1218.60.980.97?Cataract 41116400
WFS1218.60.980.97{Diabetes mellitus, noninsulin-dependent, association with},125853
WRN128.30.970.94Werner syndrome,277700
YAP195.50.850.79Coloboma, ocular,120433
YAP195.50.850.79Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation,120433
YAP195.50.850.79Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation,120433
ZEB118810.99Corneal dystrophy, Fuchs endothelial, 6613270
ZEB118810.99Corneal dystrophy, posterior polymorphous, 3609141
ZNF40811211Retinitis pigmentosa 72616469
ZNF40811211?Exudative vitreoretinopathy 6616468
ZNF423226.611Joubert syndrome 19614844
ZNF423226.611Nephronophthisis 14614844
ZNF51390.910.97Retinitis pigmentosa 58613617
ZNF644163.111Myopia 21 autosomal dominant,614167

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