qGenEx® SC. Panell Sordeses

Gene	Median coverage	% covered > 10x	% covered > 20x	Associated Phenotype description and OMIM disease ID
ACTB	134.1	0.98	0.93	Baraitser-Winter syndrome 1	243310
ACTB	134.1	0.98	0.93	?Dystonia, juvenile-onset,	607371
ACTG1	139.4	1	1	Baraitser-Winter syndrome 2	614583
ACTG1	139.4	1	1	Deafness, autosomal dominant 20/26,	604717
ADCY1	166.4	0.94	0.92	?Deafness, autosomal recessive 44	610154
AIFM1	133.5	1	0.99	Combined oxidative phosphorylation deficiency 6	300816
AIFM1	133.5	1	0.99	Cowchock syndrome,	310490
AIFM1	133.5	1	0.99	Deafness, X-linked 5	300614
APOPT1	80.9	0.87	0.84	Mitochondrial complex IV deficiency,	220110
ATP6V1B1	196.6	1	0.99	Renal tubular acidosis with deafness,	267300
BDP1	144.3	0.94	0.89	No OMIM phenotype	267300
BDP1	144.3	0.94	0.89	Hearing loss (Girotto -2013 PLoS One 8,e80323)	267300
BSND	164.9	1	1	Bartter syndrome, type 4a,	602522
BSND	164.9	1	1	Sensorineural deafness with mild renal dysfunction,	602522
CABP2	90.2	0.97	0.92	Deafness, autosomal recessive 93	614899
CACNA1D	171.6	1	0.99	Primary aldosteronism, seizures, and neurologic abnormalities,	615474
CACNA1D	171.6	1	0.99	Sinoatrial node dysfunction and deafness,	614896
CCDC50	144.6	0.99	0.99	?Deafness, autosomal dominant 44	607453
CD164	142	0.96	0.93	?Deafness,autosomal dominant 66	616969
CDC14A	179.4	0.97	0.93	Deafness,autosomal recessive 105,	616958
CDH23	216.6	0.99	0.99	Deafness, autosomal recessive 12	601386
CDH23	216.6	0.99	0.99	Usher syndrome, type 1D,	601067
CDH23	216.6	0.99	0.99	Usher syndrome, type 1D/F digenic,	601067
CEACAM16	146.2	1	0.99	Deafness, autosomal dominant 4B,	614614
CEP78	130.6	0.97	0.94	No OMIM phenotype	614614
CIB2	242.4	1	1	Deafness, autosomal recessive 48	609439
CIB2	242.4	1	1	Usher syndrome, type IJ,	614869
CLDN14	140.5	1	1	Deafness, autosomal recessive 29	614035
CLIC5	137	1	1	?Deafness, autosomal recessive 103	616042
CLPP	128.5	0.99	0.95	Perrault syndrome 3	614129
CLRN1	161.6	1	0.99	Retinitis pigmentosa 61	614180
CLRN1	161.6	1	0.99	Usher syndrome, type 3A,	276902
COCH	233.5	0.99	0.99	Deafness, autosomal dominant 9	601369
COL11A1	98.5	0.94	0.88	Fibrochondrogenesis 1	228520
COL11A1	98.5	0.94	0.88	Marshall syndrome,	154780
COL11A1	98.5	0.94	0.88	Stickler syndrome, type II,	604841
COL11A1	98.5	0.94	0.88	{Lumbar disc herniation, susceptibility to},	603932
COL11A2	14.1	0.57	0.23	Deafness, autosomal dominant 13	601868
COL11A2	14.1	0.57	0.23	Deafness, autosomal recessive 53	609706
COL11A2	14.1	0.57	0.23	Fibrochondrogenesis 2	614524
COL11A2	14.1	0.57	0.23	Otospondylomegaepiphyseal dysplasia,	215150
COL11A2	14.1	0.57	0.23	Stickler syndrome, type III,	184840
COL11A2	14.1	0.57	0.23	Weissenbacher-Zweymuller syndrome,	277610
COL2A1	115.2	0.99	0.98	Achondrogenesis, type II or hypochondrogenesis,	200610
COL2A1	115.2	0.99	0.98	Avascular necrosis of the femoral head,	608805
COL2A1	115.2	0.99	0.98	Czech dysplasia,	609162
COL2A1	115.2	0.99	0.98	Epiphyseal dysplasia, multiple, with myopia and deafness,	132450
COL2A1	115.2	0.99	0.98	Kniest dysplasia,	156550
COL2A1	115.2	0.99	0.98	Legg-Calve-Perthes disease,	150600
COL2A1	115.2	0.99	0.98	Osteoarthritis with mild chondrodysplasia,	604864
COL2A1	115.2	0.99	0.98	Otospondylomegaepiphyseal dysplasia,	215150
COL2A1	115.2	0.99	0.98	Platyspondylic skeletal dysplasia, Torrance type,	151210
COL2A1	115.2	0.99	0.98	SED congenita,	183900
COL2A1	115.2	0.99	0.98	SMED Strudwick type,	184250
COL2A1	115.2	0.99	0.98	Spondyloepiphyseal dysplasia, Stanescu type,	616583
COL2A1	115.2	0.99	0.98	Spondyloperipheral dysplasia,	271700
COL2A1	115.2	0.99	0.98	Stickler sydrome, type I, nonsyndromic ocular,	609508
COL2A1	115.2	0.99	0.98	Stickler syndrome, type I,	108300
COL2A1	115.2	0.99	0.98	Vitreoretinopathy with phalangeal epiphyseal dysplasia	108300
COL4A3	96.3	0.97	0.94	Alport syndrome, autosomal dominant,	104200
COL4A3	96.3	0.97	0.94	Alport syndrome, autosomal recessive,	203780
COL4A3	96.3	0.97	0.94	Hematuria, benign familial,	141200
COL4A4	91.9	0.97	0.93	Alport syndrome, autosomal recessive,	203780
COL4A4	91.9	0.97	0.93	Hematuria, familial benign	203780
COL4A5	59.6	0.91	0.77	Alport syndrome,	301050
COL4A6	92.5	0.95	0.9	?Deafness, X-linked 6	300914
COL9A1	128.2	0.99	0.95	Stickler syndrome, type IV,	614134
COL9A1	128.2	0.99	0.95	/?Epiphyseal dysplasia, multiple, 6	614135
COL9A2	69.7	0.98	0.91	Epiphyseal dysplasia, multiple, 2	600204
COL9A2	69.7	0.98	0.91	?Stickler syndrome, type V,	614284
COL9A2	69.7	0.98	0.91	{Intervertebral disc disease, susceptibility to},	603932
CRYM	111.2	0.99	0.96	Deafness, autosomal dominant 40	616357
DCDC2	160	0.99	0.99	Nephronophthisis 19	616217
DCDC2	160	0.99	0.99	?Deafness, autosomal recessive 66	610212
DFNA5	120.7	0.99	0.98	Deafness, autosomal dominant 5	600994
DFNB31	124.4	0.99	0.98	Deafness, autosomal recessive 31	607084
DFNB31	124.4	0.99	0.98	Usher syndrome, type 2D,	611383
DFNB59	147.2	0.99	0.98	Deafness, autosomal recessive 59	610220
DIABLO	256.9	1	0.99	Deafness, autosomal dominant 64	614152
DIAPH1	134.8	0.99	0.97	Deafness, autosomal dominant 1	124900
DIAPH1	134.8	0.99	0.97	Seizures, cortical blindness, microcephaly syndrome,	616632
DIAPH3	87.4	0.96	0.9	Auditory neuropathy, autosomal dominant, 1	609129
DSPP	191	1	0.99	Deafness, autosomal dominant 39 with dentinogenesis,	605594
DSPP	191	1	0.99	Dentin dysplasia, type II,	125420
DSPP	191	1	0.99	Dentinogenesis imperfecta, Shields type II,	125490
DSPP	191	1	0.99	Dentinogenesis imperfecta, Shields type III,	125500
EDN3	138.2	1	0.98	Central hypoventilation syndrome, congenital,	209880
EDN3	138.2	1	0.98	Waardenburg syndrome, type 4B,	613265
EDN3	138.2	1	0.98	{Hirschsprung disease, susceptibility to, 4},	613712
EDNRB	143.9	0.95	0.91	ABCD syndrome,	600501
EDNRB	143.9	0.95	0.91	Waardenburg syndrome, type 4A,	277580
EDNRB	143.9	0.95	0.91	{Hirschsprung disease, susceptibility to, 2},	600155
ELMOD3	165.2	0.99	0.99	?Deafness, autosomal recessive 88	615429
EPS8	145.9	0.97	0.92	?Deafness, autosomal recessive 102	615974
ESPN	47.8	0.77	0.6	Deafness, autosomal recessive 36	609006
ESPN	47.8	0.77	0.6	Deafness, neurosensory, without vestibular involvement, autosomal dominant	609006
ESRRB	130.1	0.99	0.99	Deafness, autosomal recessive 35	608565
EYA1	160.1	0.99	0.98	Anterior segment anomalies with or without cataract,	113650
EYA1	160.1	0.99	0.98	Branchiootic syndrome 1	602588
EYA1	160.1	0.99	0.98	Branchiootorenal syndrome 1 with or without cataracts,	113650
EYA1	160.1	0.99	0.98	?Otofaciocervical syndrome,	166780
EYA4	176.1	1	0.99	Cardiomyopathy, dilated, 1J,	605362
EYA4	176.1	1	0.99	Deafness, autosomal dominant 10	601316
FAM65B	135.5	1	0.99	?Deafness, autosomal recessive 104	616515
FGF3	80.8	0.95	0.83	Deafness, congenital with inner ear agenesis, microtia, and microdontia,	610706
FOXI1	156.8	1	0.99	Enlarged vestibular aqueduct,	600791
GATA3	185.5	1	1	Hypoparathyroidism, sensorineural deafness, and renal dysplasia,	146255
GIPC3	126.2	0.93	0.88	Deafness, autosomal recessive 15	601869
GJB2	239.7	1	1	Bart-Pumphrey syndrome,	149200
GJB2	239.7	1	1	Deafness, autosomal dominant 3A,	601544
GJB2	239.7	1	1	Deafness, autosomal recessive 1A,	220290
GJB2	239.7	1	1	Hystrix-like ichthyosis with deafness,	602540
GJB2	239.7	1	1	Keratitis-ichthyosis-deafness syndrome,	148210
GJB2	239.7	1	1	Keratoderma, palmoplantar, with deafness,	148350
GJB2	239.7	1	1	Vohwinkel syndrome,	124500
GJB3	357.6	1	1	Deafness, autosomal dominant 2B,	612644
GJB3	357.6	1	1	Deafness, autosomal dominant, with peripheral neuropathy	612644
GJB3	357.6	1	1	Deafness, autosomal recessive	612644
GJB3	357.6	1	1	Deafness, digenic, GJB2/GJB3,	220290
GJB3	357.6	1	1	Erythrokeratodermia variabilis et progressiva,	133200
GJB6	226.9	1	1	Deafness, autosomal dominant 3B,	612643
GJB6	226.9	1	1	Deafness, autosomal recessive 1B,	612645
GJB6	226.9	1	1	Deafness, digenic GJB2/GJB6,	220290
GJB6	226.9	1	1	Ectodermal dysplasia 2 Clouston type,	129500
GPR98	160.7	0.98	0.96	Usher syndrome, type 2C,	605472
GPR98	160.7	0.98	0.96	Usher syndrome, type 2C, GPR98/PDZD7 digenic,	605472
GPR98	160.7	0.98	0.96	?Febrile seizures, familial, 4	604352
GPSM2	123.3	0.99	0.95	Chudley-McCullough syndrome,	604213
GRHL2	151.5	1	0.99	Deafness, autosomal dominant 28	608641
GRHL2	151.5	1	0.99	Ectodermal dysplasia/short stature syndrome,	616029
GRXCR1	228.2	1	0.99	Deafness, autosomal recessive 25	613285
GRXCR2	130.7	1	0.99	?Deafness, autosomal recessive 101	615837
HARS	167.3	1	1	Charcot-Marie-Tooth disease, axonal, type 2W,	616625
HARS	167.3	1	1	Usher syndrome type 3B,	614504
HARS2	196.9	0.99	0.99	?Perrault syndrome 2	614926
HGF	162.5	0.98	0.96	Deafness, autosomal recessive 39	608265
HOMER2	157.2	0.99	0.99	?Deafness, autosomal dominant 68	616707
HSD17B4	110.3	0.94	0.91	D-bifunctional protein deficiency,	261515
HSD17B4	110.3	0.94	0.91	Perrault syndrome 1	233400
ILDR1	116	1	0.99	Deafness, autosomal recessive 42	609646
KARS	141.2	1	0.99	Deafness, autosomal recessive 89	613916
KARS	141.2	1	0.99	?Charcot-Marie-Tooth disease, recessive intermediate, B,	613641
KCNE1	489.6	1	1	Jervell and Lange-Nielsen syndrome 2	612347
KCNE1	489.6	1	1	Long QT syndrome 5	613695
KCNJ10	229	1	0.99	Enlarged vestibular aqueduct, digenic,	600791
KCNJ10	229	1	0.99	SESAME syndrome,	612780
KCNQ1	124.8	0.92	0.89	Atrial fibrillation, familial, 3	607554
KCNQ1	124.8	0.92	0.89	Jervell and Lange-Nielsen syndrome,	220400
KCNQ1	124.8	0.92	0.89	Long QT syndrome 1	192500
KCNQ1	124.8	0.92	0.89	Short QT syndrome 2	609621
KCNQ1	124.8	0.92	0.89	{Long QT syndrome 1 acquired, susceptibility to},	192500
KCNQ4	146	0.93	0.9	Deafness, autosomal dominant 2A,	600101
KITLG	89.7	0.94	0.9	Deafness, congenital, unilateral or asymmetric,	616697
KITLG	89.7	0.94	0.9	Hyperpigmentation with or without hypopigmentation,	145250
KITLG	89.7	0.94	0.9	[Skin/hair/eye pigmentation 7 blond/brown hair],	611664
LARS2	147.8	1	1	Perrault syndrome 4	615300
LARS2	147.8	1	1	?Hydrops, lactic acidosis, and sideroblastic anemia,	617021
LHFPL5	317.9	1	1	Deafness, autosomal recessive 67	610265
LOXHD1	149.1	1	0.99	Deafness, autosomal recessive 77	613079
LRTOMT	133.1	0.98	0.94	Deafness, autosomal recessive 63	611451
MARVELD2	173.8	0.97	0.93	Deafness, autosomal recessive 49	610153
MCM2	184.3	1	1	?Deafness,autosomal dominant 70	616968
MCM2	184.3	1	1	MIR96 NC NC NC Deafness, autosomal dominant 50	613074
MITF	163	0.99	0.99	Tietz albinism-deafness syndrome,	103500
MITF	163	0.99	0.99	Waardenburg syndrome, type 2A,	193510
MITF	163	0.99	0.99	Waardenburg syndrome/ocular albinism, digenic,	103470
MITF	163	0.99	0.99	{Melanoma, cutaneous malignant, susceptibility to, 8},	614456
MSRB3	169.8	0.98	0.96	Deafness, autosomal recessive 74	613718
MYH14	110.3	0.97	0.91	Deafness, autosomal dominant 4A,	600652
MYH14	110.3	0.97	0.91	?Peripheral neuropathy, myopathy, hoarseness, and hearing loss,	614369
MYH9	146.4	0.99	0.98	Deafness, autosomal dominant 17	603622
MYH9	146.4	0.99	0.98	Epstein syndrome,	153650
MYH9	146.4	0.99	0.98	Fechtner syndrome,	153640
MYH9	146.4	0.99	0.98	Macrothrombocytopenia and progressive sensorineural deafness,	600208
MYH9	146.4	0.99	0.98	May-Hegglin anomaly,	155100
MYH9	146.4	0.99	0.98	Sebastian syndrome,	605249
MYO15A	125.7	0.97	0.93	Deafness, autosomal recessive 3	600316
MYO3A	132.8	0.97	0.91	Deafness, autosomal recessive 30	607101
MYO6	94.3	0.96	0.9	Deafness, autosomal dominant 22	606346
MYO6	94.3	0.96	0.9	Deafness, autosomal dominant 22 with hypertrophic cardiomyopathy,	606346
MYO6	94.3	0.96	0.9	Deafness, autosomal recessive 37	607821
MYO7A	153.5	0.99	0.97	Deafness, autosomal dominant 11	601317
MYO7A	153.5	0.99	0.97	Deafness, autosomal recessive 2	600060
MYO7A	153.5	0.99	0.97	Usher syndrome, type 1B,	276900
NARS2	155.7	0.97	0.97	Combined oxidative phosphorylation deficiency 24	616239
NLRP3	153.2	1	0.99	CINCA syndrome,	607115
NLRP3	153.2	1	0.99	Familial cold-induced inflammatory syndrome 1	120100
NLRP3	153.2	1	0.99	Muckle-Wells syndrome,	191900
OPA1	135.3	0.98	0.91	Behr syndrome,	210000
OPA1	135.3	0.98	0.91	Optic atrophy 1	165500
OPA1	135.3	0.98	0.91	Optic atrophy plus syndrome,	125250
OPA1	135.3	0.98	0.91	?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type),	616896
OPA1	135.3	0.98	0.91	{Glaucoma, normal tension, susceptibility to},	606657
OSBPL2	165.5	1	1	Deafness, autosomal dominant 67	616340
OTOA	125.1	0.98	0.95	Deafness, autosomal recessive 22	607039
OTOF	146.4	0.99	0.99	Auditory neuropathy, autosomal recessive, 1	601071
OTOF	146.4	0.99	0.99	Deafness, autosomal recessive 9	601071
OTOG	155.2	0.99	0.99	Deafness, autosomal recessive 18B,	614945
OTOGL	136.9	0.97	0.94	Deafness, autosomal recessive 84B,	614944
P2RX2	135.5	0.99	0.98	Deafness, autosomal dominant 41	608224
PAX3	129.7	0.99	0.99	Craniofacial-deafness-hand syndrome,	122880
PAX3	129.7	0.99	0.99	Rhabdomyosarcoma 2 alveolar,	268220
PAX3	129.7	0.99	0.99	Waardenburg syndrome, type 1	193500
PAX3	129.7	0.99	0.99	Waardenburg syndrome, type 3	148820
PCDH15	186.7	0.99	0.99	Deafness, autosomal recessive 23	609533
PCDH15	186.7	0.99	0.99	Usher syndrome, type 1D/F digenic,	601067
PCDH15	186.7	0.99	0.99	Usher syndrome, type 1F,	602083
PDZD7	104.4	0.99	0.97	Usher syndrome, type IIC, GPR98/PDZD7 digenic,	605472
PDZD7	104.4	0.99	0.97	{Retinal disease in Usher syndrome type IIA, modifier of},	276901
PET100	127.6	0.95	0.82	Mitochondrial complex IV deficiency,	220110
PNPT1	57.7	0.92	0.79	Combined oxidative phosphorylation deficiency 13	614932
PNPT1	57.7	0.92	0.79	Deafness, autosomal recessive 70	614934
POU3F4	146.5	1	0.99	Deafness, X-linked 2	304400
POU4F3	271.3	1	1	Deafness, autosomal dominant 15	602459
PRPS1	201.5	1	1	Arts syndrome,	301835
PRPS1	201.5	1	1	Charcot-Marie-Tooth disease, X-linked recessive, 5	311070
PRPS1	201.5	1	1	Deafness, X-linked 1	304500
PRPS1	201.5	1	1	Gout, PRPS-related,	300661
PRPS1	201.5	1	1	Phosphoribosylpyrophosphate synthetase superactivity,	300661
PTPRQ	117.2	0.92	0.88	Deafness, autosomal recessive 84A,	613391
RDX	45.8	0.77	0.62	Deafness, autosomal recessive 24	611022
S1PR2	264.2	0.98	0.95	Deafness, autosomal recessive 68	610419
SERPINB6	192.8	1	1	?Deafness, autosomal recessive 91	613453
SIX1	121.1	0.99	0.96	Brachiootic syndrome 3	608389
SIX1	121.1	0.99	0.96	Deafness, autosomal dominant 23	605192
SIX5	51.6	0.9	0.8	Branchiootorenal syndrome 2	610896
SLC17A8	157.2	1	0.99	Deafness, autosomal dominant 25	605583
SLC22A4	138.8	1	0.98	{Rheumatoid arthritis, susceptibility to},	180300
SLC26A4	145.2	0.99	0.98	Deafness, autosomal recessive 4 with enlarged vestibular aqueduct,	600791
SLC26A4	145.2	0.99	0.98	Pendred syndrome,	274600
SLC26A5	176	0.99	0.96	?Deafness, autosomal recessive 61	613865
SLC33A1	148.5	0.96	0.89	Congenital cataracts, hearing loss, and neurodegeneration,	614482
SLC33A1	148.5	0.96	0.89	Spastic paraplegia 42 autosomal dominant,	612539
SLITRK6	246.7	1	1	Deafness and myopia,	221200
SMPX	87.8	1	0.98	Deafness, X-linked 4	300066
SNAI2	151.2	1	0.99	Piebaldism,	172800
SNAI2	151.2	1	0.99	Waardenburg syndrome, type 2D,	608890
SOX10	80.4	0.97	0.93	PCWH syndrome,	609136
SOX10	80.4	0.97	0.93	Waardenburg syndrome, type 2E, with or without neurologic involvement,	611584
SOX10	80.4	0.97	0.93	Waardenburg syndrome, type 4C,	613266
STRC	106.5	0.99	0.96	Deafness, autosomal recessive 16	603720
SYNE4	77	0.99	0.93	Deafness, autosomal recessive 76	615540
TBC1D24	178.8	1	0.99	Deafness , autosomal recessive 86	614617
TBC1D24	178.8	1	0.99	Deafness, autosomal dominant 65	616044
TBC1D24	178.8	1	0.99	DOOR syndrome,	220500
TBC1D24	178.8	1	0.99	Epileptic encephalopathy, early infantile, 16	615338
TBC1D24	178.8	1	0.99	Myoclonic epilepsy, infantile, familial,	605021
TECTA	227.6	1	0.99	Deafness, autosomal dominant 8/12,	601543
TECTA	227.6	1	0.99	Deafness, autosomal recessive 21	603629
TIMM8A	45.5	0.87	0.7	Jensen syndrome,	311150
TIMM8A	45.5	0.87	0.7	Mohr-Tranebjaerg syndrome,	304700
TJP2	132.2	0.99	0.99	Cholestasis, progressive familial intrahepatic 4	615878
TJP2	132.2	0.99	0.99	Hypercholanemia, familial,	607748
TMC1	150.8	0.96	0.94	Deafness, autosomal dominant 36	606705
TMC1	150.8	0.96	0.94	Deafness, autosomal recessive 7	600974
TMEM132E	132.2	0.98	0.96	No OMIM phenotype	600974
TMEM132E	132.2	0.98	0.96	Deafness,autosomal dominant 99 (Li et al, Hum Mutat 2015 36(1) 98-105)	600974
TMIE	122.7	0.98	0.93	Deafness, autosomal recessive 6	600971
TMPRSS3	135.1	0.99	0.98	Deafness, autosomal recessive 8/10,	601072
TNC	192.6	1	0.99	Deafness, autosomal dominant 56	615629
TPRN	78.3	0.82	0.75	Deafness, autosomal recessive 79	613307
TRIOBP	133	0.97	0.95	Deafness, autosomal recessive 28	609823
TSPEAR	154.4	1	0.99	Deafness, autosomal recessive 98	614861
TSPEAR	154.4	1	0.99	Ectodermal dysplasia (Peled et al, -2016 PLOS Genetics online)	614861
TYR	205.6	1	0.99	Albinism, oculocutaneous, type IA,	203100
TYR	205.6	1	0.99	Albinism, oculocutaneous, type IB,	606952
TYR	205.6	1	0.99	Waardenburg syndrome/albinism, digenic,	103470
TYR	205.6	1	0.99	[Skin/hair/eye pigmentation 3 blue/green eyes],	601800
TYR	205.6	1	0.99	[Skin/hair/eye pigmentation 3 light/dark/freckling skin],	601800
TYR	205.6	1	0.99	{Melanoma, cutaneous malignant, susceptibility to, 8},	601800
USH1C	122.7	0.99	0.99	Deafness, autosomal recessive 18A,	602092
USH1C	122.7	0.99	0.99	Usher syndrome, type 1C,	276904
USH1G	185	0.98	0.96	Usher syndrome, type 1G,	606943
USH2A	172.6	0.99	0.99	Retinitis pigmentosa 39	613809
USH2A	172.6	0.99	0.99	Usher syndrome, type 2A,	276901
WBP2	112.5	1	1	No OMIM phenotype	276901
WBP2	112.5	1	1	Deafness, progressive (Buniello -2016 EMBO Molecular Medicine 8,191-207	276901
WFS1	257.4	0.99	0.98	Deafness, autosomal dominant 6/14/38,	600965
WFS1	257.4	0.99	0.98	Wolfram syndrome,	222300
WFS1	257.4	0.99	0.98	Wolfram-like syndrome, autosomal dominant,	614296
WFS1	257.4	0.99	0.98	?Cataract 41	116400
WFS1	257.4	0.99	0.98	{Diabetes mellitus, noninsulin-dependent, association with},	125853
YAP1	115.4	0.86	0.79	Coloboma, ocular,	120433
YAP1	115.4	0.86	0.79	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation,	120433

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qGenEx® SC. Panell de Sordeses

Una part dels casos de pèrdua auditiva tenen una base genètica. Al voltant del 75-80% dels casos són causats per gens recessius, 20-25% són causats per gens dominants, 1-2% són heretats amb patró lligat al cromosoma X i menys d’un 1% són deguts a herència mitocondrial.

Atenent a les formes genètiques de sordesa, podem distingir dues formes diferents, les sindròmiques i les no sindròmiques. La sordesa sindròmica es produeix quan en un individu hi ha altres signes o problemes mèdics a part de la sordesa. Això representa aproximadament el 30% de persones sordes per causes genètiques. En aquest grup hi ha malalties com la síndrome d’Usher, la de Stickler, la de Waardenburg o la d’Alport, i totes elles tenen la pèrdua auditiva com a caractarística comuna. La sordesa no sindròmica es produeix quan en l’individu no hi ha altres signes o problemes mèdics associats, diferents de la sordesa. Aquest grup representa l’altre 70% dels casos, i representa la major part dels casos de pèrdua d’audició hereditària.

Els panells qGenEx® consisteixen en anàlisis d’exoma dirigides, que permeten restringir l’estudi a un grup de gens concret segons l’especialitat o sospita clínica concreta, al mateix temps que generen dades de la totalitat de l’exoma, per si en primera instància no s’identifica el gen responsable, ja tinguem les dades apunt per a noves anàlisis presents o futures.

El servei qGenEx® SC analitza 146 gens associats a diferents tipus de sordeses, fent servir seqüenciació d’exoma complet mitjançant NGS.

Fes servir el buscador per trobar el gen o grup de gens relacionats amb la patologia que t’interessa i que formen part del panell:

gene
RNR1
tRNA-Ser1
ABHD12
ACTG1
ADGRV1
ALMS1
ATP6V1B1
BCS1L
BMP4
BSND
CABP2
CCDC50
CDC6
CDH23
CDT1
CEACAM16
CEP78
CHD7
CIB2
CLDN14
CLPP
CLRN1
COCH
COL11A2
COL4A5
COL4A6
GSDME
PJVK
DHODH
DIAPH1
DNMT1
DSPP
EDN3
EDNRA
EDNRB
EFTUD2
EIF4A3
EPS8
ESPN
ESRRB
EYA1
EYA4
FGF10
FGF3
FGFR2
FGFR3
FRAS1
FREM2
GATA3
GIPC3
GJB2
GJB3
GNAI3
GPSM2
GRHL2
GRIP1
GRXCR1
GSC
HAAO
HMX1
HOXA2
HSD17B4
HSPA9
ILDR1
KARS1
KCNE1
KCNJ10
KCNQ1
KCNQ4
KDM6A
KIT
KMT2D
LARS2
LHFPL5
LOXHD1
LRTOMT
MARVELD2
MASP1
MITF
MSRB3
MYH14
MYH9
MYO15A
MYO3A
MYO6
MYO7A
OFD1
OPA1
ORC1
ORC4
ORC6
OSBPL2
OTOA
OTOF
OTOG
OTOGL
OTX2
P2RX2
PAX2
PAX3
PCDH15
PDZD7
PLCB4
PNPT1
POLR1A
POLR1C
POLR1D
POU3F4
POU4F3
PRPS1
PTPRQ
RDX
S1PR2
SALL1
SALL4
SERAC1
SERPINB6
SF3B4
SGPL1
SIX1
SLC17A8
SLC26A4
SLC26A5
SLC4A11
SMPX
SNAI2
SOX10
SOX2
SPATA5
STRC
SYNE4
TBC1D24
TCOF1
TECTA
TFAP2A
TIMM8A
TMC1
TMIE
TMPRSS3
TPRN
TRIOBP
USH1C
USH1G
USH2A
WFS1
WHRN

Una anàlisi per a cada metge especialista i, al mateix temps, per a tots!

Descarrega el consentiment informat AQUÍ

El test pot demanar-se des de la Plataforma de Comandes, o bé descarregant el Full de Sol·licitud.

Accedeix a la plataforma de comandes Comanda sense plataforma

Com demano un test?

1) Emplenar la sol·licitud del test.

Necessitem la informació del metge sol·licitant, les dades del pacient (especialment l’identificador de la mostra, la data de naixement i el sexe), i per descomptat seleccionar el test que se sol·licita.

La resta de camps també són importants, així que si disposes de la informació, ens serà de gran utilitat.

2) Imprimir el full de sol·licitud.

Una vegada emplenat a l’ordinador, s’ha d’imprimir i signar per part del metge sol·licitant.

3) Obtenir la mostra biològica.

És important recordar que les mostres han d’anar identificades amb el mateix identificador o nom indicat al Full de Sol·licitud.

4) Preparar la mostra de manera adequada per al seu enviament.

Embalar la mostra biològica de manera adequada i adjuntar el Full de Sol·licitud.

No oblidi incloure una còpia del document de consentiment informat, signat pel pacient o els seus representants legals.

5) Enviar la mostra al laboratori o demanar-ne la recollida trucant al 932 301 270

L’adreça d’enviament és:

Quantitative Genomic Medicine Laboratories (qGenomics)
c/Joan XXIII, 10
08950 – Esplugues del Llobregat

Requisits de les mostres biològiques

DNA: >5ug, a una concentració mínima de 50ng/uL, i de bona qualitat (ratio 260/280 >1.8).

Sang en EDTA: 1 tub de 3-5mL (nens, mínim 1mL de sang).

Sang en paper: un mínim de 10 spots en targeta Guthrie o paper de filtre.

Alternativament es pot demanar a qGenomics un kit de recollida de saliva o de cèl·lules bucals.

Preparació per a l'enviament

Les mostres biològiques com la sang, la saliva o altres fluïds corporals són considerades mostres biològiques de categoria B, mentre que l’ADN es pot considerar un “Especimen humà exent”. Pots llegir aquí com han d’anar acondicionades.

La sang recollida en un tub d’EDTA, l’ADN, la saliva recollida en els contenidors especials que proporcionem, i la sang en paper, són estables a temperatura ambient durant 3 o 4 dies. Les mostres poden enviar-se, convenientment protegides, per correu ordinari o missatger.

qGenEx® SC. Panell Sordeses

qGenEx® SC. Panell de Sordeses

Fes servir el buscador per trobar el gen o grup de gens relacionats amb la patologia que t’interessa i que formen part del panell:

Una anàlisi per a cada metge especialista i, al mateix temps, per a tots!

1) Emplenar la sol·licitud del test.

2) Imprimir el full de sol·licitud.

3) Obtenir la mostra biològica.

4) Preparar la mostra de manera adequada per al seu enviament.

5) Enviar la mostra al laboratori o demanar-ne la recollida trucant al 932 301 270

Truca’ns al 932 301 270 quan ho tinguis tot preparat i passarem a recollir les teves mostres.

qGenEx® AC. Panell d’Anomalies Esquelètiques i Cranials

qGenEx® CA. Panell Cardiología

qGenEx® DI. Panell Discapacitat Intel·lectual

qGenEx® EM. Panell d’Enfermetats Mitocondrials

qGenEx® EP. Panel d’Epilèpsia

qGenEx® EV. Panell patologies de la Visió

qGenEx® HH. Panell d’Hipogonadisme hipogonadotròfic

qGenEx® IP. Immunodeficiències Primàries

qGenEx® MEN. Panel Mendelioma

qGenEx® MI. Panell Miopaties

qGenEx® NE. Panell Neuropaties

qGenEx® PC. Panell Ciliopaties

qGenEx® SC. Panell Sordeses

qGenEx® TDS. Panell Trastorns del Desenvolupament Sexual

qGenEx® THi. Panell Trastornos del metabolisme del Ferro

qGenEx® THT. Panell Trastorns Hematològics

qGenEx® TM. Panell Trastorns del Metabolisme

qGenEx® TMV. Panell Trastorns del Moviment

qGenEx® TR. Panel Malalties Renals

qGenEx® EP. Panell d’Enfermetats de la Pell

“Calidad” en las pruebas de detección de Covid-19

El test más rápido para detectar COVID-19 es la RT-PCR

Acreditación ENAC – ISO 15189

Tel. 932 301 270