qGenEx SC. Panel Sorderas

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

qGenEx SC analiza 141 genes asociados a trastornos de la audición 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 
ACTB134.10.980.93Baraitser-Winter syndrome 1243310
ACTB134.10.980.93?Dystonia, juvenile-onset,607371
ACTG1139.411Baraitser-Winter syndrome 2614583
ACTG1139.411Deafness, autosomal dominant 20/26,604717
ADCY1166.40.940.92?Deafness, autosomal recessive 44610154
AIFM1133.510.99Combined oxidative phosphorylation deficiency 6300816
AIFM1133.510.99Cowchock syndrome,310490
AIFM1133.510.99Deafness, X-linked 5300614
APOPT180.90.870.84Mitochondrial complex IV deficiency,220110
ATP6V1B1196.610.99Renal tubular acidosis with deafness,267300
BDP1144.30.940.89No OMIM phenotype267300
BDP1144.30.940.89Hearing loss (Girotto -2013 PLoS One 8,e80323)267300
BSND164.911Bartter syndrome, type 4a,602522
BSND164.911Sensorineural deafness with mild renal dysfunction,602522
CABP290.20.970.92Deafness, autosomal recessive 93614899
CACNA1D171.610.99Primary aldosteronism, seizures, and neurologic abnormalities,615474
CACNA1D171.610.99Sinoatrial node dysfunction and deafness,614896
CCDC50144.60.990.99?Deafness, autosomal dominant 44607453
CD1641420.960.93?Deafness,autosomal dominant 66616969
CDC14A179.40.970.93Deafness,autosomal recessive 105,616958
CDH23216.60.990.99Deafness, autosomal recessive 12601386
CDH23216.60.990.99Usher syndrome, type 1D,601067
CDH23216.60.990.99Usher syndrome, type 1D/F digenic,601067
CEACAM16146.210.99Deafness, autosomal dominant 4B,614614
CEP78130.60.970.94No OMIM phenotype614614
CIB2242.411Deafness, autosomal recessive 48609439
CIB2242.411Usher syndrome, type IJ,614869
CLDN14140.511Deafness, autosomal recessive 29614035
CLIC513711?Deafness, autosomal recessive 103616042
CLPP128.50.990.95Perrault syndrome 3614129
CLRN1161.610.99Retinitis pigmentosa 61614180
CLRN1161.610.99Usher syndrome, type 3A,276902
COCH233.50.990.99Deafness, autosomal dominant 9601369
COL11A198.50.940.88Fibrochondrogenesis 1228520
COL11A198.50.940.88Marshall syndrome,154780
COL11A198.50.940.88Stickler syndrome, type II,604841
COL11A198.50.940.88{Lumbar disc herniation, susceptibility to},603932
COL11A214.10.570.23Deafness, autosomal dominant 13601868
COL11A214.10.570.23Deafness, autosomal recessive 53609706
COL11A214.10.570.23Fibrochondrogenesis 2614524
COL11A214.10.570.23Otospondylomegaepiphyseal dysplasia,215150
COL11A214.10.570.23Stickler syndrome, type III,184840
COL11A214.10.570.23Weissenbacher-Zweymuller syndrome,277610
COL2A1115.20.990.98Achondrogenesis, type II or hypochondrogenesis,200610
COL2A1115.20.990.98Avascular necrosis of the femoral head,608805
COL2A1115.20.990.98Czech dysplasia,609162
COL2A1115.20.990.98Epiphyseal dysplasia, multiple, with myopia and deafness,132450
COL2A1115.20.990.98Kniest dysplasia,156550
COL2A1115.20.990.98Legg-Calve-Perthes disease,150600
COL2A1115.20.990.98Osteoarthritis with mild chondrodysplasia,604864
COL2A1115.20.990.98Otospondylomegaepiphyseal dysplasia,215150
COL2A1115.20.990.98Platyspondylic skeletal dysplasia, Torrance type,151210
COL2A1115.20.990.98SED congenita,183900
COL2A1115.20.990.98SMED Strudwick type,184250
COL2A1115.20.990.98Spondyloepiphyseal dysplasia, Stanescu type,616583
COL2A1115.20.990.98Spondyloperipheral dysplasia,271700
COL2A1115.20.990.98Stickler sydrome, type I, nonsyndromic ocular,609508
COL2A1115.20.990.98Stickler syndrome, type I,108300
COL2A1115.20.990.98Vitreoretinopathy with phalangeal epiphyseal dysplasia108300
COL4A396.30.970.94Alport syndrome, autosomal dominant,104200
COL4A396.30.970.94Alport syndrome, autosomal recessive,203780
COL4A396.30.970.94Hematuria, benign familial,141200
COL4A491.90.970.93Alport syndrome, autosomal recessive,203780
COL4A491.90.970.93Hematuria, familial benign203780
COL4A559.60.910.77Alport syndrome,301050
COL4A692.50.950.9?Deafness, X-linked 6300914
COL9A1128.20.990.95Stickler syndrome, type IV,614134
COL9A1128.20.990.95/?Epiphyseal dysplasia, multiple, 6614135
COL9A269.70.980.91Epiphyseal dysplasia, multiple, 2600204
COL9A269.70.980.91?Stickler syndrome, type V,614284
COL9A269.70.980.91{Intervertebral disc disease, susceptibility to},603932
CRYM111.20.990.96Deafness, autosomal dominant 40616357
DCDC21600.990.99Nephronophthisis 19616217
DCDC21600.990.99?Deafness, autosomal recessive 66610212
DFNA5120.70.990.98Deafness, autosomal dominant 5600994
DFNB31124.40.990.98Deafness, autosomal recessive 31607084
DFNB31124.40.990.98Usher syndrome, type 2D,611383
DFNB59147.20.990.98Deafness, autosomal recessive 59610220
DIABLO256.910.99Deafness, autosomal dominant 64614152
DIAPH1134.80.990.97Deafness, autosomal dominant 1124900
DIAPH1134.80.990.97Seizures, cortical blindness, microcephaly syndrome,616632
DIAPH387.40.960.9Auditory neuropathy, autosomal dominant, 1609129
DSPP19110.99Deafness, autosomal dominant 39 with dentinogenesis,605594
DSPP19110.99Dentin dysplasia, type II,125420
DSPP19110.99Dentinogenesis imperfecta, Shields type II,125490
DSPP19110.99Dentinogenesis imperfecta, Shields type III,125500
EDN3138.210.98Central hypoventilation syndrome, congenital,209880
EDN3138.210.98Waardenburg syndrome, type 4B,613265
EDN3138.210.98{Hirschsprung disease, susceptibility to, 4},613712
EDNRB143.90.950.91ABCD syndrome,600501
EDNRB143.90.950.91Waardenburg syndrome, type 4A,277580
EDNRB143.90.950.91{Hirschsprung disease, susceptibility to, 2},600155
ELMOD3165.20.990.99?Deafness, autosomal recessive 88615429
EPS8145.90.970.92?Deafness, autosomal recessive 102615974
ESPN47.80.770.6Deafness, autosomal recessive 36609006
ESPN47.80.770.6Deafness, neurosensory, without vestibular involvement, autosomal dominant609006
ESRRB130.10.990.99Deafness, autosomal recessive 35608565
EYA1160.10.990.98Anterior segment anomalies with or without cataract,113650
EYA1160.10.990.98Branchiootic syndrome 1602588
EYA1160.10.990.98Branchiootorenal syndrome 1 with or without cataracts,113650
EYA1160.10.990.98?Otofaciocervical syndrome,166780
EYA4176.110.99Cardiomyopathy, dilated, 1J,605362
EYA4176.110.99Deafness, autosomal dominant 10601316
FAM65B135.510.99?Deafness, autosomal recessive 104616515
FGF380.80.950.83Deafness, congenital with inner ear agenesis, microtia, and microdontia,610706
FOXI1156.810.99Enlarged vestibular aqueduct,600791
GATA3185.511Hypoparathyroidism, sensorineural deafness, and renal dysplasia,146255
GIPC3126.20.930.88Deafness, autosomal recessive 15601869
GJB2239.711Bart-Pumphrey syndrome,149200
GJB2239.711Deafness, autosomal dominant 3A,601544
GJB2239.711Deafness, autosomal recessive 1A,220290
GJB2239.711Hystrix-like ichthyosis with deafness,602540
GJB2239.711Keratitis-ichthyosis-deafness syndrome,148210
GJB2239.711Keratoderma, palmoplantar, with deafness,148350
GJB2239.711Vohwinkel syndrome,124500
GJB3357.611Deafness, autosomal dominant 2B,612644
GJB3357.611Deafness, autosomal dominant, with peripheral neuropathy612644
GJB3357.611Deafness, autosomal recessive612644
GJB3357.611Deafness, digenic, GJB2/GJB3,220290
GJB3357.611Erythrokeratodermia variabilis et progressiva,133200
GJB6226.911Deafness, autosomal dominant 3B,612643
GJB6226.911Deafness, autosomal recessive 1B,612645
GJB6226.911Deafness, digenic GJB2/GJB6,220290
GJB6226.911Ectodermal dysplasia 2 Clouston type,129500
GPR98160.70.980.96Usher syndrome, type 2C,605472
GPR98160.70.980.96Usher syndrome, type 2C, GPR98/PDZD7 digenic,605472
GPR98160.70.980.96?Febrile seizures, familial, 4604352
GPSM2123.30.990.95Chudley-McCullough syndrome,604213
GRHL2151.510.99Deafness, autosomal dominant 28608641
GRHL2151.510.99Ectodermal dysplasia/short stature syndrome,616029
GRXCR1228.210.99Deafness, autosomal recessive 25613285
GRXCR2130.710.99?Deafness, autosomal recessive 101615837
HARS167.311Charcot-Marie-Tooth disease, axonal, type 2W,616625
HARS167.311Usher syndrome type 3B,614504
HARS2196.90.990.99?Perrault syndrome 2614926
HGF162.50.980.96Deafness, autosomal recessive 39608265
HOMER2157.20.990.99?Deafness, autosomal dominant 68616707
HSD17B4110.30.940.91D-bifunctional protein deficiency,261515
HSD17B4110.30.940.91Perrault syndrome 1233400
ILDR111610.99Deafness, autosomal recessive 42609646
KARS141.210.99Deafness, autosomal recessive 89613916
KARS141.210.99?Charcot-Marie-Tooth disease, recessive intermediate, B,613641
KCNE1489.611Jervell and Lange-Nielsen syndrome 2612347
KCNE1489.611Long QT syndrome 5613695
KCNJ1022910.99Enlarged vestibular aqueduct, digenic,600791
KCNJ1022910.99SESAME syndrome,612780
KCNQ1124.80.920.89Atrial fibrillation, familial, 3607554
KCNQ1124.80.920.89Jervell and Lange-Nielsen syndrome,220400
KCNQ1124.80.920.89Long QT syndrome 1192500
KCNQ1124.80.920.89Short QT syndrome 2609621
KCNQ1124.80.920.89{Long QT syndrome 1 acquired, susceptibility to},192500
KCNQ41460.930.9Deafness, autosomal dominant 2A,600101
KITLG89.70.940.9Deafness, congenital, unilateral or asymmetric,616697
KITLG89.70.940.9Hyperpigmentation with or without hypopigmentation,145250
KITLG89.70.940.9[Skin/hair/eye pigmentation 7 blond/brown hair],611664
LARS2147.811Perrault syndrome 4615300
LARS2147.811?Hydrops, lactic acidosis, and sideroblastic anemia,617021
LHFPL5317.911Deafness, autosomal recessive 67610265
LOXHD1149.110.99Deafness, autosomal recessive 77613079
LRTOMT133.10.980.94Deafness, autosomal recessive 63611451
MARVELD2173.80.970.93Deafness, autosomal recessive 49610153
MCM2184.311?Deafness,autosomal dominant 70616968
MCM2184.311MIR96 NC NC NC Deafness, autosomal dominant 50613074
MITF1630.990.99Tietz albinism-deafness syndrome,103500
MITF1630.990.99Waardenburg syndrome, type 2A,193510
MITF1630.990.99Waardenburg syndrome/ocular albinism, digenic,103470
MITF1630.990.99{Melanoma, cutaneous malignant, susceptibility to, 8},614456
MSRB3169.80.980.96Deafness, autosomal recessive 74613718
MYH14110.30.970.91Deafness, autosomal dominant 4A,600652
MYH14110.30.970.91?Peripheral neuropathy, myopathy, hoarseness, and hearing loss,614369
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
MYO15A125.70.970.93Deafness, autosomal recessive 3600316
MYO3A132.80.970.91Deafness, autosomal recessive 30607101
MYO694.30.960.9Deafness, autosomal dominant 22606346
MYO694.30.960.9Deafness, autosomal dominant 22 with hypertrophic cardiomyopathy,606346
MYO694.30.960.9Deafness, autosomal recessive 37607821
MYO7A153.50.990.97Deafness, autosomal dominant 11601317
MYO7A153.50.990.97Deafness, autosomal recessive 2600060
MYO7A153.50.990.97Usher syndrome, type 1B,276900
NARS2155.70.970.97Combined oxidative phosphorylation deficiency 24616239
NLRP3153.210.99CINCA syndrome,607115
NLRP3153.210.99Familial cold-induced inflammatory syndrome 1120100
NLRP3153.210.99Muckle-Wells syndrome,191900
OPA1135.30.980.91Behr syndrome,210000
OPA1135.30.980.91Optic atrophy 1165500
OPA1135.30.980.91Optic atrophy plus syndrome,125250
OPA1135.30.980.91?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type),616896
OPA1135.30.980.91{Glaucoma, normal tension, susceptibility to},606657
OSBPL2165.511Deafness, autosomal dominant 67616340
OTOA125.10.980.95Deafness, autosomal recessive 22607039
OTOF146.40.990.99Auditory neuropathy, autosomal recessive, 1601071
OTOF146.40.990.99Deafness, autosomal recessive 9601071
OTOG155.20.990.99Deafness, autosomal recessive 18B,614945
OTOGL136.90.970.94Deafness, autosomal recessive 84B,614944
P2RX2135.50.990.98Deafness, autosomal dominant 41608224
PAX3129.70.990.99Craniofacial-deafness-hand syndrome,122880
PAX3129.70.990.99Rhabdomyosarcoma 2 alveolar,268220
PAX3129.70.990.99Waardenburg syndrome, type 1193500
PAX3129.70.990.99Waardenburg syndrome, type 3148820
PCDH15186.70.990.99Deafness, autosomal recessive 23609533
PCDH15186.70.990.99Usher syndrome, type 1D/F digenic,601067
PCDH15186.70.990.99Usher syndrome, type 1F,602083
PDZD7104.40.990.97Usher syndrome, type IIC, GPR98/PDZD7 digenic,605472
PDZD7104.40.990.97{Retinal disease in Usher syndrome type IIA, modifier of},276901
PET100127.60.950.82Mitochondrial complex IV deficiency,220110
PNPT157.70.920.79Combined oxidative phosphorylation deficiency 13614932
PNPT157.70.920.79Deafness, autosomal recessive 70614934
POU3F4146.510.99Deafness, X-linked 2304400
POU4F3271.311Deafness, autosomal dominant 15602459
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
PTPRQ117.20.920.88Deafness, autosomal recessive 84A,613391
RDX45.80.770.62Deafness, autosomal recessive 24611022
S1PR2264.20.980.95Deafness, autosomal recessive 68610419
SERPINB6192.811?Deafness, autosomal recessive 91613453
SIX1121.10.990.96Brachiootic syndrome 3608389
SIX1121.10.990.96Deafness, autosomal dominant 23605192
SIX551.60.90.8Branchiootorenal syndrome 2610896
SLC17A8157.210.99Deafness, autosomal dominant 25605583
SLC22A4138.810.98{Rheumatoid arthritis, susceptibility to},180300
SLC26A4145.20.990.98Deafness, autosomal recessive 4 with enlarged vestibular aqueduct,600791
SLC26A4145.20.990.98Pendred syndrome,274600
SLC26A51760.990.96?Deafness, autosomal recessive 61613865
SLC33A1148.50.960.89Congenital cataracts, hearing loss, and neurodegeneration,614482
SLC33A1148.50.960.89Spastic paraplegia 42 autosomal dominant,612539
SLITRK6246.711Deafness and myopia,221200
SMPX87.810.98Deafness, X-linked 4300066
SNAI2151.210.99Piebaldism,172800
SNAI2151.210.99Waardenburg syndrome, type 2D,608890
SOX1080.40.970.93PCWH syndrome,609136
SOX1080.40.970.93Waardenburg syndrome, type 2E, with or without neurologic involvement,611584
SOX1080.40.970.93Waardenburg syndrome, type 4C,613266
STRC106.50.990.96Deafness, autosomal recessive 16603720
SYNE4770.990.93Deafness, autosomal recessive 76615540
TBC1D24178.810.99Deafness , autosomal recessive 86614617
TBC1D24178.810.99Deafness, autosomal dominant 65616044
TBC1D24178.810.99DOOR syndrome,220500
TBC1D24178.810.99Epileptic encephalopathy, early infantile, 16615338
TBC1D24178.810.99Myoclonic epilepsy, infantile, familial,605021
TECTA227.610.99Deafness, autosomal dominant 8/12,601543
TECTA227.610.99Deafness, autosomal recessive 21603629
TIMM8A45.50.870.7Jensen syndrome,311150
TIMM8A45.50.870.7Mohr-Tranebjaerg syndrome,304700
TJP2132.20.990.99Cholestasis, progressive familial intrahepatic 4615878
TJP2132.20.990.99Hypercholanemia, familial,607748
TMC1150.80.960.94Deafness, autosomal dominant 36606705
TMC1150.80.960.94Deafness, autosomal recessive 7600974
TMEM132E132.20.980.96No OMIM phenotype600974
TMEM132E132.20.980.96Deafness,autosomal dominant 99 (Li et al, Hum Mutat 2015 36(1) 98-105)600974
TMIE122.70.980.93Deafness, autosomal recessive 6600971
TMPRSS3135.10.990.98Deafness, autosomal recessive 8/10,601072
TNC192.610.99Deafness, autosomal dominant 56615629
TPRN78.30.820.75Deafness, autosomal recessive 79613307
TRIOBP1330.970.95Deafness, autosomal recessive 28609823
TSPEAR154.410.99Deafness, autosomal recessive 98614861
TSPEAR154.410.99Ectodermal dysplasia (Peled et al, -2016 PLOS Genetics online)614861
TYR205.610.99Albinism, oculocutaneous, type IA,203100
TYR205.610.99Albinism, oculocutaneous, type IB,606952
TYR205.610.99Waardenburg syndrome/albinism, digenic,103470
TYR205.610.99[Skin/hair/eye pigmentation 3 blue/green eyes],601800
TYR205.610.99[Skin/hair/eye pigmentation 3 light/dark/freckling skin],601800
TYR205.610.99{Melanoma, cutaneous malignant, susceptibility to, 8},601800
USH1C122.70.990.99Deafness, autosomal recessive 18A,602092
USH1C122.70.990.99Usher syndrome, type 1C,276904
USH1G1850.980.96Usher syndrome, type 1G,606943
USH2A172.60.990.99Retinitis pigmentosa 39613809
USH2A172.60.990.99Usher syndrome, type 2A,276901
WBP2112.511No OMIM phenotype276901
WBP2112.511Deafness, progressive (Buniello -2016 EMBO Molecular Medicine 8,191-207276901
WFS1257.40.990.98Deafness, autosomal dominant 6/14/38,600965
WFS1257.40.990.98Wolfram syndrome,222300
WFS1257.40.990.98Wolfram-like syndrome, autosomal dominant,614296
WFS1257.40.990.98?Cataract 41116400
WFS1257.40.990.98{Diabetes mellitus, noninsulin-dependent, association with},125853
YAP1115.40.860.79Coloboma, ocular,120433
YAP1115.40.860.79Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation,120433

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