qGenEx PC. Panel Ciliopatías

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

qGenEx PC analiza 124 genes asociados a ciliopatías 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 coverageAssociated PhenotypeOMIM ID
AHI1151.9Joubert syndrome-3,608629
ALMS1197.7Alstrom syndrome,203800
ANKS699.5Nephronophthisis 16615382
ARL13B100.4Joubert syndrome 8612291
ARL699Bardet-Biedl syndrome 3600151
ARL699?Retinitis pigmentosa 55613575
ARL699{Bardet-Biedl syndrome 1 modifier of},209900
ARMC4135.5Ciliary dyskinesia, primary, 23615451
ATXN10166.4Spinocerebellar ataxia 10603516
B9D1119.3?Meckel syndrome 9614209
B9D2123.3Meckel syndrome 10614175
BBIP1150.1?Bardet-Biedl syndrome 18615995
BBS1162.3Bardet-Biedl syndrome 1209900
BBS10179.1Bardet-Biedl syndrome 10615987
BBS12225Bardet-Biedl syndrome 12615989
BBS2210.1Bardet-Biedl syndrome 2615981
BBS2210.1Retinitis pigmentosa 74616562
BBS4163.9Bardet-Biedl syndrome 4615982
BBS5122.1Bardet-Biedl syndrome 5615983
BBS7135.5Bardet-Biedl syndrome 7615984
BBS9124.1Bardet-Biedl syndrome 9615986
C21orf59160.1Ciliary dyskinesia, primary, 26615500
C2CD3163.2?Orofaciodigital syndrome XIV,615948
C5orf42136.5Joubert syndrome 17614615
C5orf42136.5Orofaciodigital syndrome VI,277170
CC2D2A137.5COACH syndrome,216360
CC2D2A137.5Joubert syndrome 9612285
CC2D2A137.5Meckel syndrome 6612284
CCDC103114.9Ciliary dyskinesia, primary, 17614679
CCDC114135.4Ciliary dyskinesia, primary, 20615067
CCDC151132Ciliary dyskinesia, primary, 30616037
CCDC28B90.5{Bardet-Biedl syndrome 1 modifier of},209900
CCDC3990.9Ciliary dyskinesia, primary, 14613807
CCDC40130.4Ciliary dyskinesia, primary, 15613808
CCDC41113.4Nephronophthisis 18615862
CCDC65109.3Ciliary dyskinesia, primary, 27615504
CCNO99Ciliary dyskinesia, primary, 29615872
CENPF151.1Stromme syndrome,243605
CEP104141.5Joubert syndrome 25616781
CEP120145.3Short-rib thoracic dysplasia 13 with or without polydactyly,616300
CEP16498.4Nephronophthisis 15614845
CEP29077.4Joubert syndrome 5610188
CEP29077.4Leber congenital amaurosis 10611755
CEP29077.4Meckel syndrome 4611134
CEP29077.4Senior-Loken syndrome 6610189
CEP29077.4?Bardet-Biedl syndrome 14615991
CEP4196.7Joubert syndrome 15614464
CSPP1119.4Joubert syndrome 21615636
DCDC2160Nephronophthisis 19616217
DCDC2160?Deafness, autosomal recessive 66610212
DDX59184.5Orofaciodigital syndrome V,174300
DNAAF1128.5Ciliary dyskinesia, primary, 13613193
DNAAF2104.1Ciliary dyskinesia, primary, 10612518
DNAAF397.1Ciliary dyskinesia, primary, 2606763
DNAH11150.4Ciliary dyskinesia, primary, 7 with or without situs inversus,611884
DNAH5144.4Ciliary dyskinesia, primary, 3 with or without situs inversus,608644
DNAI1130.3Ciliary dyskinesia, primary, 1 with or without situs inversus,244400
DNAI2163.5Ciliary dyskinesia, primary, 9 with or without situs inversus,612444
DNAJB13146.1No OMIM phenotype612444
DNAL1115.8Ciliary dyskinesia, primary, 16614017
DNHD1184.4No OMIM phenotype614017
DRC1105.8Ciliary dyskinesia, primary, 21615294
DYNC2H1102.9Short-rib thoracic dysplasia 3 with or without polydactyly,613091
DYX1C188.3Ciliary dyskinesia, primary, 25615482
DYX1C188.3{Dyslexia, susceptibility to, 1},127700
EVC117.3Ellis-van Creveld syndrome,225500
EVC117.3Weyers acrodental dysostosis,193530
EVC2125.8Ellis-van Creveld syndrome,225500
EVC2125.8Weyers acrofacial dysostosis,193530
EXOC8169.7No OMIM phenotype193530
EXOC8169.7Joubert syndrome (Dixon-Salazar -2012 Sci Transl Med 4 138ra78)193530
GAS8166.7Ciliary dyskinesia, primary, 33616726
GLIS2106.8Nephronophthisis 7611498
HEATR2119.8Ciliary dyskinesia, primary, 18614874
HYDIN151.7Ciliary dyskinesia, primary, 5608647
HYLS1180.7Hydrolethalus syndrome,236680
IFT122164.4Cranioectodermal dysplasia 1218330
IFT140124.5Short-rib thoracic dysplasia 9 with or without polydactyly,266920
IFT172128.2Retinitis pigmentosa 71616394
IFT172128.2Short-rib thoracic dysplasia 10 with or without polydactyly,615630
IFT27131.5?Bardet-Biedl syndrome 19615996
IFT43130.6Cranioectodermal dysplasia 3614099
IFT8066.9Short-rib thoracic dysplasia 2 with or without polydactyly,611263
INPP5E105.1Joubert syndrome 1213300
INPP5E105.1Mental retardation, truncal obesity, retinal dystrophy, and micropenis,610156
INVS176.4Nephronophthisis 2 infantile,602088
IQCB1105.9Senior-Loken syndrome 5609254
KIAA0586126.6Joubert syndrome 23616490
KIAA0586126.6Short-rib thoracic dysplasia 14 with polydactyly,616546
KIF14129.2?Meckel syndrome 12616258
KIF793.4Acrocallosal syndrome,200990
KIF793.4Joubert syndrome 12200990
KIF793.4?Al-Gazali-Bakalinova syndrome,607131
KIF793.4?Hydrolethalus syndrome 2614120
LCA5141.6Leber congenital amaurosis 5604537
LRRC6180.2Ciliary dyskinesia, primary, 19614935
LZTFL1136.5Bardet-Biedl syndrome 17615994
MKKS239.6Bardet-Biedl syndrome 6605231
MKKS239.6McKusick-Kaufman syndrome,236700
MKS1113.5Bardet-Biedl syndrome 13615990
MKS1113.5Meckel syndrome 1249000
NEK1124Short-rib thoracic dysplasia 6 with or without polydactyly,263520
NEK8187.6?Nephronophthisis 9613824
NEK8187.6?Renal-hepatic-pancreatic dysplasia 2615415
NME8118.2Ciliary dyskinesia, primary, 6610852
NPHP1141Joubert syndrome 4609583
NPHP1141Nephronophthisis 1,00 juvenile,256100
NPHP1141Senior-Loken syndrome-1,266900
NPHP3128.7Meckel syndrome 7267010
NPHP3128.7Nephronophthisis 3,00604387
NPHP3128.7Renal-hepatic-pancreatic dysplasia 1208540
NPHP4148Nephronophthisis 4606966
NPHP4148Senior-Loken syndrome 4606996
OCRL152.2Dent disease 2300555
OCRL152.2Lowe syndrome,309000
OFD156.1Joubert syndrome 10300804
OFD156.1Orofaciodigital syndrome I,311200
OFD156.1Simpson-Golabi-Behmel syndrome, type 2300209
OFD156.1?Retinitis pigmentosa 23300424
PDE6D118.9?Joubert syndrome 22615665
PKD128.2Polycystic kidney disease, adult type I,173900
PKD2119.8Polycystic kidney disease 2613095
PKHD1173.7Polycystic kidney and hepatic disease,263200
POC1A150.5Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis,614813
RPGRIP1L153.6COACH syndrome,216360
RPGRIP1L153.6Joubert syndrome 7611560
RPGRIP1L153.6Meckel syndrome 5611561
RSPH1181Ciliary dyskinesia, primary, 24615481
RSPH3141.8Ciliary dyskinesia, primary, 32616481
RSPH4A157.3Ciliary dyskinesia, primary, 11612649
RSPH9150.8Ciliary dyskinesia, primary, 12612650
SCLT176.2No OMIM phenotype612650
SCLT176.2Oro-facio-digital syndrome type IX (Adly -2014 Hum Mutat 35,36)612650
SDCCAG8136.3Bardet-Biedl syndrome 16615993
SDCCAG8136.3Senior-Loken syndrome 7613615
SPAG193.2Ciliary dyskinesia, primary, 28615505
SPATA7136.3Leber congenital amaurosis 3604232
SPATA7136.3Retinitis pigmentosa, juvenile, autosomal recessive,604232
TBC1D3287.1No OMIM phenotype604232
TBC1D3287.1Oro-facio-digital syndrome type IX (Adly -2014 Hum Mutat 35 36)604232
TCTN1117.4Joubert syndrome 13614173
TCTN2163.8Joubert syndrome 24616654
TCTN2163.8?Meckel syndrome 8613885
TCTN3135.8Joubert syndrome 18614815
TCTN3135.8Orofaciodigital syndrome IV,258860
TMEM138133.5Joubert syndrome 16614465
TMEM216159.2Joubert syndrome 2608091
TMEM216159.2Meckel syndrome 2603194
TMEM231103.4Joubert syndrome 20614970
TMEM231103.4Meckel syndrome 11615397
TMEM237115.6Joubert syndrome 14614424
TMEM6778.9COACH syndrome,216360
TMEM6778.9Joubert syndrome 6610688
TMEM6778.9Meckel syndrome 3607361
TMEM6778.9Nephronophthisis 11,00613550
TMEM6778.9{Bardet-Biedl syndrome 14 modifier of},615991
TRIM32152.9Muscular dystrophy, limb-girdle, type 2H,254110
TRIM32152.9?Bardet-Biedl syndrome 11615988
TTBK2169.4Spinocerebellar ataxia 11604432
TTC21B111.6Nephronophthisis 12613820
TTC21B111.6Short-rib thoracic dysplasia 4 with or without polydactyly,613819
TTC25107.8Ciliary dyskinesia, primary, 35617092
TTC8109.1Bardet-Biedl syndrome 8615985
TTC8109.1?Retinitis pigmentosa 51613464
TULP1108.1Leber congenital amaurosis 15613843
TULP1108.1Retinitis pigmentosa 14600132
VHL120.5Erythrocytosis, familial, 2263400
VHL120.5Hemangioblastoma, cerebellar, somatic263400
VHL120.5Pheochromocytoma,171300
VHL120.5Renal cell carcinoma, somatic,144700
VHL120.5von Hippel-Lindau syndrome,193300
WDPCP121.7?Bardet-Biedl syndrome 15615992
WDPCP121.7?Congenital heart defects, hamartomas of tongue, and polysyndactyly,217085
WDR19153.5Nephronophthisis 13614377
WDR19153.5Senior-Loken syndrome 8616307
WDR19153.5?Cranioectodermal dysplasia 4614378
WDR19153.5?Short-rib thoracic dysplasia 5 with or without polydactyly,614376
WDR34112.3Short-rib thoracic dysplasia 11 with or without polydactyly,615633
WDR35167.2Cranioectodermal dysplasia 2613610
WDR35167.2Short-rib thoracic dysplasia 7 with or without polydactyly,614091
WDR60120.8Short-rib thoracic dysplasia 8 with or without polydactyly,615503
XPNPEP3148.8Nephronophthisis-like nephropathy 1613159
ZMYND10155.6Ciliary dyskinesia, primary, 22615444
ZNF423279.5Joubert syndrome 19614844
ZNF423279.5Nephronophthisis 14614844

Un análisis para cada médico especialista… y para todos.

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