qGenEx TR. Panel Enfermedades Renales

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

qGenEx TR analiza 226 genes asociados a trastornos renales 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 
ACTN4151.80.990.99Glomerulosclerosis, focal segmental, 1603278
ADAMTS13113.70.960.92Thrombotic thrombocytopenic purpura, familial,274150
ADCK4106.910.99Nephrotic syndrome, type 9615573
ADCY10172.510.99{Hypercalciuria, absorptive, susceptibility to},143870
AGTR1159.810.99Renal tubular dysgenesis,267430
AGTR1159.810.99{Hypertension, essential},145500
AGXT149.511Hyperoxaluria, primary, type 1259900
AHI1151.90.980.94Joubert syndrome-3,608629
ALG8153.60.960.93Congenital disorder of glycosylation, type Ih,608104
ALMS1197.70.990.99Alstrom syndrome,203800
ANKS699.50.930.89Nephronophthisis 16615382
ANLN156.40.960.92Focal segmental glomerulosclerosis 8616032
AP2S1154.30.90.88Hypocalciuric hypercalcemia, familial, type III,600740
APRT68.40.990.99Adenine phosphoribosyltransferase deficiency,614723
AQP2125.30.980.93Diabetes insipidus, nephrogenic,125800
ARHGDIA158.410.99Nephrotic syndrome, type 8615244
ARL13B100.40.990.92Joubert syndrome 8612291
ARL6990.970.91Bardet-Biedl syndrome 3600151
ARL6990.970.91?Retinitis pigmentosa 55613575
ARL6990.970.91{Bardet-Biedl syndrome 1 modifier of},209900
ATP6V0A4133.40.990.99Renal tubular acidosis, distal, autosomal recessive,602722
ATP6V1B1196.610.99Renal tubular acidosis with deafness,267300
ATXN10166.40.990.96Spinocerebellar ataxia 10603516
AVPR2154.90.980.95Diabetes insipidus, nephrogenic,304800
AVPR2154.90.980.95Nephrogenic syndrome of inappropriate antidiuresis,300539
B9D1119.30.920.91?Meckel syndrome 9614209
B9D2123.311Meckel syndrome 10614175
BBS1162.311Bardet-Biedl syndrome 1209900
BBS10179.110.99Bardet-Biedl syndrome 10615987
BBS1222511Bardet-Biedl syndrome 12615989
BBS2210.110.99Bardet-Biedl syndrome 2615981
BBS2210.110.99Retinitis pigmentosa 74616562
BBS4163.90.990.97Bardet-Biedl syndrome 4615982
BBS7135.50.970.92Bardet-Biedl syndrome 7615984
BBS9124.10.960.93Bardet-Biedl syndrome 9615986
BCS1L184.411Bjornstad syndrome,262000
BCS1L184.411GRACILE syndrome,603358
BCS1L184.411Leigh syndrome,256000
BCS1L184.411Mitochondrial complex III deficiency, nuclear type 1124000
BICC1177.20.990.99{Renal dysplasia, cystic, susceptibility to},601331
BSND164.911Bartter syndrome, type 4a,602522
BSND164.911Sensorineural deafness with mild renal dysfunction,602522
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
CA2166.30.980.93Osteopetrosis, autosomal recessive 3 with renal tubular acidosis,259730
CASR181.30.990.99Hypercalciuric hypercalcemia259730
CASR181.30.990.99Hyperparathyroidism, neonatal,239200
CASR181.30.990.99Hypocalcemia, autosomal dominant,601198
CASR181.30.990.99Hypocalcemia, autosomal dominant, with Bartter syndrome,601198
CASR181.30.990.99Hypocalciuric hypercalcemia, type I,145980
CASR181.30.990.99{Calcium, serum level of}145980
CASR181.30.990.99{Epilepsy idiopathic generalized, susceptibility to, 8},612899
CC2D2A137.50.980.96COACH syndrome,216360
CC2D2A137.50.980.96Joubert syndrome 9612285
CC2D2A137.50.980.96Meckel syndrome 6612284
CCDC41113.40.970.89Nephronophthisis 18615862
CD2AP98.10.980.94Glomerulosclerosis, focal segmental, 3607832
CD46140.50.970.92{Hemolytic uremic syndrome, atypical, susceptibility to, 2},612922
CEP16498.40.990.96Nephronophthisis 15614845
CEP29077.40.880.77Joubert syndrome 5610188
CEP29077.40.880.77Leber congenital amaurosis 10611755
CEP29077.40.880.77Meckel syndrome 4611134
CEP29077.40.880.77Senior-Loken syndrome 6610189
CEP29077.40.880.77?Bardet-Biedl syndrome 14615991
CEP4196.70.970.9Joubert syndrome 15614464
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
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
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
CLCN5162.60.990.97Dent disease,300009
CLCN5162.60.990.97Hypophosphatemic rickets,300554
CLCN5162.60.990.97Nephrolithiasis, type I,310468
CLCN5162.60.990.97Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis,308990
CLCNKB106.80.980.92Bartter syndrome, type 3607364
CLCNKB106.80.980.92Bartter syndrome, type 4b, digenic,613090
CLDN16161.410.99Hypomagnesemia 3 renal,248250
CLDN19143.10.980.95Hypomagnesemia 5 renal, with ocular involvement,248190
CNNM2213.20.990.99Hypomagnesemia 6 renal,613882
CNNM2213.20.990.99Hypomagnesemia, seizures, and mental retardation,616418
COL4A1101.80.980.93Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps,611773
COL4A1101.80.980.93Brain small vessel disease with or without ocular anomalies,607595
COL4A1101.80.980.93Porencephaly 1175780
COL4A1101.80.980.93?Retinal arteries, tortuosity of,180000
COL4A1101.80.980.93{Hemorrhage, intracerebral, susceptibility to},614519
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
COQ284.50.950.92Coenzyme Q10 deficiency, primary, 1607426
COQ284.50.950.92{Multiple system atrophy, susceptibility to},146500
COQ6154.80.980.96Coenzyme Q10 deficiency, primary, 6614650
COQ7188.10.990.98?Coenzyme Q10 deficiency, primary, 8616733
COQ9105.70.990.98Coenzyme Q10 deficiency, primary, 5614654
CRB2111.20.990.96Focal segmental glomerulosclerosis 9616220
CRB2111.20.990.96Ventriculomegaly with cystic kidney disease,219730
CTNS138.111Cystinosis, atypical nephropathic,219800
CTNS138.111Cystinosis, late-onset juvenile or adolescent nephropathic,219900
CTNS138.111Cystinosis, nephropathic,219800
CTNS138.111Cystinosis, ocular nonnephropathic,219750
CUBN141.90.990.98Megaloblastic anemia-1, Finnish type,261100
CUL3128.60.980.94Pseudohypoaldosteronism, type IIE,614496
CYP24A1191.10.990.99Hypercalcemia, infantile,143880
DCDC21600.990.99Nephronophthisis 19616217
DCDC21600.990.99?Deafness, autosomal recessive 66610212
DGKE157.90.980.93Nephrotic syndrome, type 7615008
DGKE157.90.980.93{Hemolytic uremic syndrome, atypical, susceptibility to, 7},615008
DMP11680.990.99Hypophosphatemic rickets, AR,241520
DSTYK152.40.990.98{Congenital anomalies of kidney and urinary tract, susceptibility to},610805
DYNC2H1102.90.950.86Short-rib thoracic dysplasia 3 with or without polydactyly,613091
EGF157.60.990.99Hypomagnesemia 4 renal,611718
EHHADH184.410.99?Fanconi renotubular syndrome 3615605
EMP2113.610.98Nephrotic syndrome, type 10615861
ENPP1155.50.910.83Arterial calcification, generalized, of infancy, 1208000
ENPP1155.50.910.83Cole disease,615522
ENPP1155.50.910.83Hypophosphatemic rickets, autosomal recessive, 2613312
ENPP1155.50.910.83{Diabetes mellitus, non-insulin-dependent, susceptibility to},125853
ENPP1155.50.910.83{Obesity, susceptibility to},601665
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
FAM20A118.60.970.92Amelogenesis imperfecta, type IG (enamel-renal syndrome),204690
FAM58A85.70.820.78STAR syndrome,300707
FAN1167.410.99Interstitial nephritis, karyomegalic,614817
FAT1234.310.99No OMIM phenotype614817
FAT1234.310.99Nephrotic syndrome, tubular ectasia and haematuria (Gee -2016 Nat Commun 7,10822)614817
FAT1234.310.99Facioscapulohumeral dystrophy-like phenotype (Puppo -2015 Hum Mutat 36,443)614817
FAT1234.310.99?Congenital anomalies of the kidney and urinary tract (Nicolaou -2015 Kidney Int 89,476)614817
FAT1234.310.99?Autism (Neale -2012 Nature 485,242)614817
FGF23129.90.990.98Hypophosphatemic rickets, autosomal dominant,193100
FGF23129.90.990.98Osteomalacia, tumor-induced193100
FGF23129.90.990.98Tumoral calcinosis, hyperphosphatemic, familial,211900
FN1158.80.990.99Glomerulopathy with fibronectin deposits 2601894
FN1158.80.990.99Plasma fibronectin deficiency,614101
FRAS116510.99Fraser syndrome,219000
FREM1156.40.990.98Bifid nose with or without anorectal and renal anomalies,608980
FREM1156.40.990.98Manitoba oculotrichoanal syndrome,248450
FREM1156.40.990.98Trigonocephaly 2614485
FREM2199.10.990.99Fraser syndrome,219000
FXYD2105.510.99Hypomagnesemia 2 renal,154020
GALNT3144.60.980.94Tumoral calcinosis, hyperphosphatemic, familial,211900
GATA3185.511Hypoparathyroidism, sensorineural deafness, and renal dysplasia,146255
GLA87.10.990.97Fabry disease,301500
GLA87.10.990.97Fabry disease, cardiac variant,301500
GLB193.90.990.95GM1-gangliosidosis, type I,230500
GLB193.90.990.95GM1-gangliosidosis, type II,230600
GLB193.90.990.95GM1-gangliosidosis, type III,230650
GLB193.90.990.95Mucopolysaccharidosis type IVB (Morquio),253010
GLIS2106.80.990.97Nephronophthisis 7611498
GLIS315510.99Diabetes mellitus, neonatal, with congenital hypothyroidism,610199
GNA11173.110.99Hypocalcemia, autosomal dominant 2615361
GNA11173.110.99Hypocalciuric hypercalcemia, type II,145981
GRHPR120.10.840.79Hyperoxaluria, primary, type II,260000
GSN131.20.970.93Amyloidosis, Finnish type,105120
HNF1B138.40.990.99Diabetes mellitus, noninsulin-dependent,125853
HNF1B138.40.990.99Renal cysts and diabetes syndrome,137920
HNF1B138.40.990.99{Renal cell carcinoma},144700
HNF4A166.40.990.99Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young,616026
HNF4A166.40.990.99MODY, type I,125850
HNF4A166.40.990.99{Diabetes mellitus, noninsulin-dependent},125853
HOGA1154.210.97Hyperoxaluria, primary, type III,613616
HPRT175.30.940.84HPRT-related gout,300323
HPRT175.30.940.84Lesch-Nyhan syndrome,300322
HSD11B2166.60.870.84Apparent mineralocorticoid excess,218030
IFT122164.410.99Cranioectodermal dysplasia 1218330
IFT140124.50.990.98Short-rib thoracic dysplasia 9 with or without polydactyly,266920
IFT172128.20.990.99Retinitis pigmentosa 71616394
IFT172128.20.990.99Short-rib thoracic dysplasia 10 with or without polydactyly,615630
IFT43130.611Cranioectodermal dysplasia 3614099
INF297.90.930.9Charcot-Marie-Tooth disease, dominant intermediate E,614455
INF297.90.930.9Glomerulosclerosis, focal segmental, 5613237
INPP5E105.10.960.91Joubert syndrome 1213300
INPP5E105.10.960.91Mental retardation, truncal obesity, retinal dystrophy, and micropenis,610156
INVS176.410.99Nephronophthisis 2 infantile,602088
IQCB1105.90.860.75Senior-Loken syndrome 5609254
ITGA8141.50.990.98Renal hypodysplasia/aplasia 1191830
JAG11670.990.98Alagille syndrome,118450
JAG11670.990.98Tetralogy of Fallot,187500
JAG11670.990.98?Deafness, congenital heart defects, and posterior embryotoxon187500
KAL1106.40.890.87Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1),308700
KCNJ1259.711Bartter syndrome, type 2241200
KCNJ1022910.99Enlarged vestibular aqueduct, digenic,600791
KCNJ1022910.99SESAME syndrome,612780
KIF793.40.950.88Acrocallosal syndrome,200990
KIF793.40.950.88Joubert syndrome 12200990
KIF793.40.950.88?Al-Gazali-Bakalinova syndrome,607131
KIF793.40.950.88?Hydrolethalus syndrome 2614120
KL1860.970.95Tumoral calcinosis, hyperphosphatemic,211900
KL1860.970.95{Coronary artery disease, susceptibility to}211900
KLHL3154.80.990.99Pseudohypoaldosteronism, type IID,614495
LAMB2212.510.99Nephrotic syndrome, type 5 with or without ocular abnormalities,614199
LAMB2212.510.99Pierson syndrome,609049
LCAT160.70.990.96Fish-eye disease,136120
LCAT160.70.990.96Norum disease,245900
LMX1B130.30.990.95Nail-patella syndrome,161200
LRP2199.910.99Donnai-Barrow syndrome,222448
LRP4183.80.990.98Cenani-Lenz syndactyly syndrome,212780
LRP4183.80.990.98Sclerosteosis 2614305
LRP4183.80.990.98?Myasthenic syndrome, congenital, 17616304
LYZ192.211Amyloidosis, renal,105200
LZTFL1136.50.980.94Bardet-Biedl syndrome 17615994
MAFB117.80.990.98Duane retraction syndrome 3617041
MAFB117.80.990.98Multicentric carpotarsal osteolysis syndrome,166300
MAGED286.60.990.98Bartter syndrome, type 5,antenatal,transient,300971
MKKS239.60.890.89Bardet-Biedl syndrome 6605231
MKKS239.60.890.89McKusick-Kaufman syndrome,236700
MKS1113.50.990.98Bardet-Biedl syndrome 13615990
MKS1113.50.990.98Meckel syndrome 1249000
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
MYO1E150.30.980.96Glomerulosclerosis, focal segmental, 6614131
NEK11240.970.93Short-rib thoracic dysplasia 6 with or without polydactyly,263520
NEK8187.610.99?Nephronophthisis 9613824
NEK8187.610.99?Renal-hepatic-pancreatic dysplasia 2615415
NOTCH2194.610.99Alagille syndrome 2610205
NOTCH2194.610.99Hajdu-Cheney syndrome,102500
NPHP11410.990.97Joubert syndrome 4609583
NPHP11410.990.97Nephronophthisis 1 juvenile,256100
NPHP11410.990.97Senior-Loken syndrome-1,266900
NPHP3128.70.980.94Meckel syndrome 7267010
NPHP3128.70.980.94Nephronophthisis 3604387
NPHP3128.70.980.94Renal-hepatic-pancreatic dysplasia 1208540
NPHP41480.990.99Nephronophthisis 4606966
NPHP41480.990.99Senior-Loken syndrome 4606996
NPHS1113.40.990.97Nephrotic syndrome, type 1256300
NPHS2118.50.980.92Nephrotic syndrome, type 2600995
NR3C2178.30.990.97Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy,605115
NR3C2178.30.990.97Pseudohypoaldosteronism type I, autosomal dominant,177735
NUP107133.50.980.93Nephrotic syndrome, type 11616730
NUP205152.80.990.97?Nephrotic syndrome,type 13,616893
NUP93158.10.970.94Nephrotic syndrome, type 12,616892
OCRL152.20.990.97Dent disease 2300555
OCRL152.20.990.97Lowe syndrome,309000
OFD156.10.840.71Joubert syndrome 10300804
OFD156.10.840.71Orofaciodigital syndrome I,311200
OFD156.10.840.71Simpson-Golabi-Behmel syndrome, type 2300209
OFD156.10.840.71?Retinitis pigmentosa 23300424
PAX2184.80.990.99Glomerulosclerosis, focal segmental, 7616002
PAX2184.80.990.99Papillorenal syndrome,120330
PCBD1124.70.990.99Hyperphenylalaninemia, BH4-deficient, D,264070
PDSS2131.30.970.93Coenzyme Q10 deficiency, primary, 3614652
PHEX145.50.980.96Hypophosphatemic rickets, X-linked dominant,307800
PKD128.20.420.33Polycystic kidney disease, adult type I,173900
PKD2119.80.910.87Polycystic kidney disease 2613095
PKHD1173.70.990.99Polycystic kidney and hepatic disease,263200
PLCE1171.10.990.98Nephrotic syndrome, type 3610725
PTH1R115.50.990.99Chondrodysplasia, Blomstrand type,215045
PTH1R115.50.990.99Eiken syndrome,600002
PTH1R115.50.990.99Failure of tooth eruption, primary,125350
PTH1R115.50.990.99Metaphyseal chondrodysplasia, Murk Jansen type,156400
PTPRO179.70.990.98Nephrotic syndrome, type 6614196
REN166.211Hyperuricemic nephropathy, familial juvenile 2613092
REN166.211Renal tubular dysgenesis,267430
REN166.211[Hyperproreninemia]267430
RET163.10.990.98Central hypoventilation syndrome, congenital,209880
RET163.10.990.98Medullary thyroid carcinoma,155240
RET163.10.990.98Multiple endocrine neoplasia IIA,171400
RET163.10.990.98Multiple endocrine neoplasia IIB,162300
RET163.10.990.98Pheochromocytoma,171300
RET163.10.990.98{Hirschsprung disease, susceptibility to, 1},142623
RMND1142.90.990.96Combined oxidative phosphorylation deficiency 11614922
ROBO2158.80.980.97Vesicoureteral reflux 2610878
RPGRIP1L153.60.950.93COACH syndrome,216360
RPGRIP1L153.60.950.93Joubert syndrome 7611560
RPGRIP1L153.60.950.93Meckel syndrome 5611561
RRM2B148.40.990.97Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy),612075
RRM2B148.40.990.97Mitochondrial DNA depletion syndrome 8B (MNGIE type),612075
RRM2B148.40.990.97Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5613077
SALL1147.90.990.98Townes-Brocks branchiootorenal-like syndrome,107480
SALL1147.90.990.98Townes-Brocks syndrome,107480
SALL4154.60.980.96Duane-radial ray syndrome,607323
SALL4154.60.980.96IVIC syndrome,147750
SARS2116.30.960.95Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis,613845
SCARB2138.90.990.98Epilepsy, progressive myoclonic 4 with or without renal failure,254900
SCNN1A144.80.960.94Bronchiectasis with or without elevated sweat chloride 2613021
SCNN1A144.80.960.94Pseudohypoaldosteronism, type I,264350
SCNN1B167.210.99Bronchiectasis with or without elevated sweat chloride 1211400
SCNN1B167.210.99Liddle syndrome,177200
SCNN1B167.210.99Pseudohypoaldosteronism, type I,264350
SCNN1G156.20.990.97Bronchiectasis with or without elevated sweat chloride 3613071
SCNN1G156.20.990.97Liddle syndrome,177200
SCNN1G156.20.990.97Pseudohypoaldosteronism, type I,264350
SDCCAG8136.30.990.96Bardet-Biedl syndrome 16615993
SDCCAG8136.30.990.96Senior-Loken syndrome 7613615
SEC61A11560.990.99Hyperuricemic nephropathy, familial juvenile, 4,617056
SIX1121.10.990.96Brachiootic syndrome 3608389
SIX1121.10.990.96Deafness, autosomal dominant 23605192
SIX551.60.90.8Branchiootorenal syndrome 2610896
SLC12A1194.510.99Bartter syndrome, type 1601678
SLC12A3157.410.99Gitelman syndrome,263800
SLC16A12194.111Cataract, juvenile, with microcornea and glucosuria,612018
SLC22A12119.810.99Hypouricemia, renal,220150
SLC26A3183.90.990.98Diarrhea 1 secretory chloride, congenital,214700
SLC2A2189.510.99Fanconi-Bickel syndrome,227810
SLC2A2189.510.99{Diabetes mellitus, noninsulin-dependent},125853
SLC2A9139.50.990.97Hypouricemia, renal, 2612076
SLC2A9139.50.990.97{Uric acid concentration, serum, QTL 2},612076
SLC34A1160.110.99Fanconi renotubular syndrome 2613388
SLC34A1160.110.99Hypercalcemia, infantile 2616963
SLC34A1160.110.99Nephrolithiasis/osteoporosis, hypophosphatemic, 1612286
SLC34A3115.20.980.94Hypophosphatemic rickets with hypercalciuria,241530
SLC3A11920.990.98Cystinuria,220100
SLC41A115510.99No OMIM phenotype220100
SLC4A1154.410.99Cryohydrocytosis,185020
SLC4A1154.410.99Ovalocytosis, SA type,166900
SLC4A1154.410.99Renal tubular acidosis, distal, AD,179800
SLC4A1154.410.99Renal tubular acidosis, distal, AR,611590
SLC4A1154.410.99Spherocytosis, type 4612653
SLC4A1154.410.99[Blood group, Diego],110500
SLC4A1154.410.99[Blood group, Froese],601551
SLC4A1154.410.99[Blood group, Swann],601550
SLC4A1154.410.99[Blood group, Waldner],112010
SLC4A1154.410.99[Blood group, Wright],112050
SLC4A1154.410.99[Malaria, resistance to],611162
SLC4A4150.30.990.98Renal tubular acidosis, proximal, with ocular abnormalities,604278
SLC5A2136.310.99Renal glucosuria,233100
SLC6A19173.80.990.99Hartnup disorder,234500
SLC6A19173.80.990.99Hyperglycinuria,138500
SLC6A19173.80.990.99Iminoglycinuria, digenic,242600
SLC6A20190.50.990.99Hyperglycinuria,138500
SLC6A20190.50.990.99Iminoglycinuria, digenic,242600
SLC7A7127.211Lysinuric protein intolerance,222700
SLC7A9152.610.98Cystinuria,220100
SLC9A31780.980.97Diarrhea 8 secretory sodium, congenital,616868
SLC9A3R1131.50.990.98Nephrolithiasis/osteoporosis, hypophosphatemic, 2612287
SMARCAL1148.210.99Schimke immunoosseous dysplasia,242900
SOX1779.20.970.9Vesicoureteral reflux 3613674
STRA613111Microphthalmia, isolated, with coloboma 8601186
STRA613111Microphthalmia, syndromic 9601186
STX16168.80.990.97Pseudohypoparathyroidism, type IB,603233
TCTN1117.40.950.92Joubert syndrome 13614173
TCTN2163.80.980.95Joubert syndrome 24616654
TCTN2163.80.980.95?Meckel syndrome 8613885
TCTN3135.80.990.99Joubert syndrome 18614815
TCTN3135.80.990.99Orofaciodigital syndrome IV,258860
THBD1230.990.97Thrombophilia due to thrombomodulin defect,614486
THBD1230.990.97{Hemolytic uremic syndrome, atypical, susceptibility to, 6},612926
TMEM138133.510.99Joubert syndrome 16614465
TMEM216159.210.99Joubert syndrome 2608091
TMEM216159.210.99Meckel syndrome 2603194
TMEM231103.40.990.98Joubert syndrome 20614970
TMEM231103.40.990.98Meckel syndrome 11615397
TMEM237115.60.990.96Joubert syndrome 14614424
TMEM6778.90.920.83COACH syndrome,216360
TMEM6778.90.920.83Joubert syndrome 6610688
TMEM6778.90.920.83Meckel syndrome 3607361
TMEM6778.90.920.83Nephronophthisis 11613550
TMEM6778.90.920.83{Bardet-Biedl syndrome 14 modifier of},615991
TNXB17.80.590.32Ehlers-Danlos syndrome due to tenascin X deficiency,606408
TNXB17.80.590.32Vesicoureteral reflux 8615963
TRIM32152.911Muscular dystrophy, limb-girdle, type 2H,254110
TRIM32152.911?Bardet-Biedl syndrome 11615988
TRPC6131.90.970.94Glomerulosclerosis, focal segmental, 2603965
TRPM6172.40.990.98Hypomagnesemia 1 intestinal,602014
TSC1149.60.990.98Lymphangioleiomyomatosis,606690
TSC1149.60.990.98Tuberous sclerosis-1,191100
TSC2144.50.990.98Lymphangioleiomyomatosis, somatic,606690
TSC2144.50.990.98Tuberous sclerosis-2,613254
TTC21B111.60.990.96Nephronophthisis 12613820
TTC21B111.60.990.96Short-rib thoracic dysplasia 4 with or without polydactyly,613819
TTC8109.10.980.93Bardet-Biedl syndrome 8615985
TTC8109.10.980.93?Retinitis pigmentosa 51613464
UMOD130.60.970.96Glomerulocystic kidney disease with hyperuricemia and isosthenuria,609886
UMOD130.60.970.96Hyperuricemic nephropathy, familial juvenile 1162000
UMOD130.60.970.96Medullary cystic kidney disease 2603860
UPK3A129.20.990.97No OMIM phenotype603860
VDR134.40.990.96Rickets, vitamin D-resistant, type IIA,277440
VDR134.40.990.96?Osteoporosis, involutional,166710
VIPAS39163.310.99Arthrogryposis, renal dysfunction, and cholestasis 2613404
VPS33B15411Arthrogryposis, renal dysfunction, and cholestasis 1208085
WDR19153.50.990.97Nephronophthisis 13614377
WDR19153.50.990.97Senior-Loken syndrome 8616307
WDR19153.50.990.97?Cranioectodermal dysplasia 4614378
WDR19153.50.990.97?Short-rib thoracic dysplasia 5 with or without polydactyly,614376
WDR35167.20.980.96Cranioectodermal dysplasia 2613610
WDR35167.20.980.96Short-rib thoracic dysplasia 7 with or without polydactyly,614091
WDR60120.80.980.95Short-rib thoracic dysplasia 8 with or without polydactyly,615503
WNK1182.10.990.98Neuropathy, hereditary sensory and autonomic, type II,201300
WNK1182.10.990.98Pseudohypoaldosteronism, type IIC,614492
WNK4135.70.990.97Pseudohypoaldosteronism, type IIB,614491
WNT4274.40.930.92Mullerian aplasia and hyperandrogenism,158330
WNT4274.40.930.92SERKAL syndrome,611812
WT11000.950.89Denys-Drash syndrome,194080
WT11000.950.89Frasier syndrome,136680
WT11000.950.89Meacham syndrome,608978
WT11000.950.89Mesothelioma, somatic,156240
WT11000.950.89Nephrotic syndrome, type 4256370
WT11000.950.89Wilms tumor, type 1194070
XDH119.910.99Xanthinuria, type I,278300
XPNPEP3148.80.980.97Nephronophthisis-like nephropathy 1613159
ZNF423279.511Joubert syndrome 19614844
ZNF423279.511Nephronophthisis 14614844

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