qGenEx EP. Panel Epilepsias

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

qGenEx EP analiza 260 genes asociados a epilepsia 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 PhenotypeOMIM disease ID
AARS144.70.990.99Charcot-Marie-Tooth disease, axonal, type 2N,613287
AARS144.70.990.99Epileptic encephalopathy, early infantile, 29616339
ABAT10310.99GABA-transaminase deficiency,613163
ABCC816710.99Diabetes mellitus, noninsulin-dependent,125853
ABCC816710.99Diabetes mellitus, permanent neonatal,606176
ABCC816710.99Diabetes mellitus, transient neonatal 2610374
ABCC816710.99Hyperinsulinemic hypoglycemia, familial, 1256450
ABCC816710.99Hypoglycemia of infancy, leucine-sensitive,240800
ACTB134.10.980.93Baraitser-Winter syndrome 1243310
ACTB134.10.980.93?Dystonia, juvenile-onset,607371
ACY1155.90.990.98Aminoacylase 1 deficiency,609924
ADCK31460.990.98Coenzyme Q10 deficiency, primary, 4612016
ADSL205.910.99Adenylosuccinase deficiency,103050
ALDH7A183.10.970.89Epilepsy, pyridoxine-dependent,266100
ALG160.30.530.49Congenital disorder of glycosylation, type Ik,608540
ALG11182.710.99Congenital disorder of glycosylation, type Ip,613661
ALG13107.40.980.94Epileptic encephalopathy, early infantile, 36300884
ALG3125.810.99Congenital disorder of glycosylation, type Id,601110
ALG6104.10.950.92Congenital disorder of glycosylation, type Ic,603147
AMACR161.60.990.98Alpha-methylacyl-CoA racemase deficiency,614307
AMACR161.60.990.98Bile acid synthesis defect, congenital, 4214950
AMT17410.99Glycine encephalopathy,605899
APOPT180.90.870.84Mitochondrial complex IV deficiency,220110
ARHGEF9109.70.990.98Epileptic encephalopathy, early infantile, 8300607
ARX39.10.820.7Epileptic encephalopathy, early infantile, 1308350
ARX39.10.820.7Hydranencephaly with abnormal genitalia,300215
ARX39.10.820.7Lissencephaly, X-linked 2300215
ARX39.10.820.7Mental retardation, X-linked 29 and others,300419
ARX39.10.820.7Partington syndrome,309510
ARX39.10.820.7Proud syndrome,300004
ASAH11410.980.92Farber lipogranulomatosis,228000
ASAH11410.980.92Spinal muscular atrophy with progressive myoclonic epilepsy,159950
ATP1A2209.611Alternating hemiplegia of childhood,104290
ATP1A2209.611Migraine, familial basilar,602481
ATP1A2209.611Migraine, familial hemiplegic, 2602481
ATP1A3205.711Alternating hemiplegia of childhood 2614820
ATP1A3205.711CAPOS syndrome,601338
ATP1A3205.711Dystonia-12,128235
ATP6AP255.40.830.63?Parkinsonism with spasticity, X-linked,300911
ATP6AP255.40.830.63?Mental retardation, X-linked, syndromic, Hedera type,300423
ATP7A157.30.990.97Menkes disease,309400
ATP7A157.30.990.97Occipital horn syndrome,304150
ATP7A157.30.990.97Spinal muscular atrophy, distal, X-linked 3300489
ATRX94.50.970.93Alpha-thalassemia myelodysplasia syndrome, somatic,300448
ATRX94.50.970.93Alpha-thalassemia/mental retardation syndrome,301040
ATRX94.50.970.93Mental retardation-hypotonic facies syndrome, X-linked,309580
AUTS2115.20.960.95Mental retardation, autosomal dominant 26,615834
BOLA3590.910.82Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia,614299
BRAT1112.90.990.96Rigidity and multifocal seizure syndrome, lethal neonatal,614498
BTD163.810.99Biotinidase deficiency,253260
CACNA1A105.60.950.91Episodic ataxia, type 2108500
CACNA1A105.60.950.91Migraine, familial hemiplegic, 1141500
CACNA1A105.60.950.91Migraine, familial hemiplegic, 1 with progressive cerebellar ataxia,141500
CACNA1A105.60.950.91Spinocerebellar ataxia 6183086
CACNA1E158.50.990.99No OMIM phenotype183086
CACNA1E158.50.990.99?Epileptic encephalopathy with infantile spasms (Helbig -2016 Genet Med Epub,Epub)183086
CACNA1E158.50.990.99?Autism (O'Roak -2012 Nature 485,246)183086
CACNA2D2160.60.940.92No OMIM phenotype183086
CACNA2D2160.60.940.92Epileptic encephalopathy (Pippucci -2013 PLoS One 8,e82154)183086
CACNA2D2160.60.940.92?Schizophrenia (Purcell -2014 Nature 506 185)183086
CASK116.50.980.94FG syndrome 4300422
CASK116.50.980.94Mental retardation and microcephaly with pontine and cerebellar hypoplasia,300749
CASK116.50.980.94Mental retardation, with or without nystagmus,300422
CDKL5140.70.980.96Epileptic encephalopathy, early infantile, 2300672
CHD2148.50.990.98Epileptic encephalopathy, childhood-onset,615369
CHRNA2251.611Epilepsy, nocturnal frontal lobe, type 4610353
CHRNA4168.20.970.95Epilepsy, nocturnal frontal lobe, 1600513
CHRNA4168.20.970.95{Nicotine addiction, susceptibility to},188890
CHRNB2267.90.990.98Epilepsy, nocturnal frontal lobe, 3605375
CLDN16161.410.99Hypomagnesemia 3 renal,248250
CLDN19143.10.980.95Hypomagnesemia 5 renal, with ocular involvement,248190
CLN3125.90.980.94Ceroid lipofuscinosis, neuronal, 3204200
CLN5163.10.980.93Ceroid lipofuscinosis, neuronal, 5256731
CLN6142.30.980.94Ceroid lipofuscinosis, neuronal, 6601780
CLN6142.30.980.94Ceroid lipofuscinosis, neuronal, Kufs type, adult onset,204300
CLN8252.411Ceroid lipofuscinosis, neuronal, 8600143
CLN8252.411Ceroid lipofuscinosis, neuronal, 8 Northern epilepsy variant,610003
CNNM2213.20.990.99Hypomagnesemia 6 renal,613882
CNNM2213.20.990.99Hypomagnesemia, seizures, and mental retardation,616418
CNTN2148.210.99?Epilepsy, myoclonic, familial adult, 5615400
CNTNAP2156.810.99Cortical dysplasia-focal epilepsy syndrome,610042
CNTNAP2156.810.99Pitt-Hopkins like syndrome 1610042
CNTNAP2156.810.99{Autism susceptibility 15},612100
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
COL4A3BP140.60.990.96Mental retardation, autosomal dominant 34616351
COQ284.50.950.92Coenzyme Q10 deficiency, primary, 1607426
COQ284.50.950.92{Multiple system atrophy, susceptibility to},146500
COQ4940.860.82Coenzyme Q10 deficiency, primary, 7616276
CPA6139.50.990.98Epilepsy, familial temporal lobe, 5614417
CPA6139.50.990.98Febrile seizures, familial, 11614418
CPS1169.310.99Carbamoylphosphate synthetase I deficiency,237300
CPS1169.310.99{Pulmonary hypertension, neonatal, susceptibility to},615371
CPS1169.310.99{Venoocclusive disease after bone marrow transplantation}615371
CPT2168.60.980.96CPT deficiency, hepatic, type II,600649
CPT2168.60.980.96CPT II deficiency, lethal neonatal,608836
CPT2168.60.980.96Myopathy due to CPT II deficiency,255110
CPT2168.60.980.96{Encephalopathy, acute, infection-induced, 4 susceptibility to},614212
CSTB120.610.99Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg),254800
CTSD183.60.990.98Ceroid lipofuscinosis, neuronal, 10610127
CTSF117.40.890.82Ceroid lipofuscinosis, neuronal, 13 Kufs type,615362
CUL4B83.80.960.9Mental retardation, X-linked, syndromic 15 (Cabezas type),300354
D2HGDH147.90.970.95D-2-hydroxyglutaric aciduria,600721
DCX137.910.99Lissencephaly, X-linked,300067
DCX137.910.99Subcortical laminal heteropia, X-linked,300067
DEPDC5162.30.990.99Epilepsy, familial focal, with variable foci,604364
DLAT102.40.990.95Pyruvate dehydrogenase E2 deficiency,245348
DNAJC5205.610.99Ceroid lipofuscinosis, neuronal, 4 Parry type,162350
DNM1171.50.940.91Epileptic encephalopathy, early infantile, 31616346
DOCK7128.80.970.94Epileptic encephalopathy, early infantile, 23615859
DPAGT1134.511Congenital disorder of glycosylation, type Ij,608093
DPAGT1134.511Myasthenic syndrome, congenital, 13 with tubular aggregates,614750
DPM1136.90.890.84Congenital disorder of glycosylation, type Ie,608799
DPM2115.210.99Congenital disorder of glycosylation, type Iu,615042
DPYD177.90.950.945-fluorouracil toxicity,274270
DPYD177.90.950.94Dihydropyrimidine dehydrogenase deficiency,274270
DYNC1H1196.810.99Charcot-Marie-Tooth disease, axonal, type 20614228
DYNC1H1196.810.99Mental retardation, autosomal dominant 13614563
DYNC1H1196.810.99Spinal muscular atrophy, lower extremity-predominant 1 AD,158600
DYRK1A176.510.99Mental retardation, autosomal dominant 7614104
EEF1A2208.60.990.98Epileptic encephalopathy, early infantile, 33616409
EEF1A2208.60.990.98Mental retardation, autosomal dominant 38616393
EGF157.60.990.99Hypomagnesemia 4 renal,611718
EHMT1161.20.980.96Kleefstra syndrome,610253
EPM2A123.70.850.83Epilepsy, progressive myoclonic 2A (Lafora),254780
FA2H108.90.940.88Spastic paraplegia 35 autosomal recessive,612319
FARS2224.810.99Combined oxidative phosphorylation deficiency 14614946
FARS2224.810.99?Spastic paraplegia 77 autosomal recessive,617046
FASN136.80.990.99No OMIM phenotype617046
FASN136.80.990.99Intellectual disability (Najmabadi -2011 Nature 478 57)617046
FASN136.80.990.99?Epileptic encephalopathy (Appenzeller -2014 Am J Hum Genet 95 360)617046
FASN136.80.990.99?Lennox-Gastaut syndrome (Appenzeller -2014 Am J Hum Genet 95,360)617046
FGD198.10.950.89Aarskog-Scott syndrome,305400
FGD198.10.950.89Mental retardation, X-linked syndromic 16305400
FLNA161.10.990.99Cardiac valvular dysplasia, X-linked,314400
FLNA161.10.990.99Congenital short bowel syndrome,300048
FLNA161.10.990.99FG syndrome 2300321
FLNA161.10.990.99Frontometaphyseal dysplasia,305620
FLNA161.10.990.99Heterotopia, periventricular,300049
FLNA161.10.990.99Heterotopia, periventricular, ED variant,300537
FLNA161.10.990.99Intestinal pseudoobstruction, neuronal,300048
FLNA161.10.990.99Melnick-Needles syndrome,309350
FLNA161.10.990.99Otopalatodigital syndrome, type I,311300
FLNA161.10.990.99Otopalatodigital syndrome, type II,304120
FLNA161.10.990.99Terminal osseous dysplasia,300244
FOLR1166.311Neurodegeneration due to cerebral folate transport deficiency,613068
FOXG1130.80.890.82Rett syndrome, congenital variant,613454
FOXRED1145.110.99Leigh syndrome due to mitochondrial complex I deficiency,256000
FOXRED1145.110.99Mitochondrial complex I deficiency,252010
FXYD2105.510.99Hypomagnesemia 2 renal,154020
GABRA1199.911Epileptic encephalopathy, early infantile, 19615744
GABRA1199.911{Epilepsy, childhood absence, susceptibility to, 4},611136
GABRA1199.911{Epilepsy, juvenile myoclonic, susceptibility to, 5},611136
GABRB3165.30.970.93{Epilepsy, childhood absence, susceptibility to, 5},612269
GABRG21780.930.92Epilepsy, generalized, with febrile seizures plus, type 3611277
GABRG21780.930.92Febrile seizures, familial, 8611277
GABRG21780.930.92{Epilepsy, childhood absence, susceptibility to, 2},607681
GAMT119.10.970.91Cerebral creatine deficiency syndrome 2612736
GCK155.411Diabetes mellitus, noninsulin-dependent, late onset,125853
GCK155.411Diabetes mellitus, permanent neonatal,606176
GCK155.411Hyperinsulinemic hypoglycemia, familial, 3602485
GCK155.411MODY, type II,125851
GCSH38.80.830.62Glycine encephalopathy,605899
GLDC90.10.910.84Glycine encephalopathy,605899
GLRA1136.511Hyperekplexia, hereditary 1 autosomal dominant or recessive,149400
GLRB100.70.960.91Hyperekplexia 2 autosomal recessive,614619
GLUD182.40.940.86Hyperinsulinism-hyperammonemia syndrome,606762
GNAO1204.811Epileptic encephalopathy, early infantile, 17615473
GOSR2143.10.970.95Epilepsy, progressive myoclonic 6614018
GPC31210.980.94Simpson-Golabi-Behmel syndrome, type 1312870
GPC31210.980.94Wilms tumor, somatic,194070
GPHN192.10.980.97Molybdenum cofactor deficiency C,615501
GRIA3112.80.990.95Mental retardation, X-linked 94300699
GRIN1166.910.99Mental retardation, autosomal dominant 8614254
GRIN2A176.511Epilepsy, focal, with speech disorder and with or without mental retardation,245570
GRIN2B213.20.990.99Epileptic encephalopathy, early infantile, 27616139
GRIN2B213.20.990.99Mental retardation, autosomal dominant 6613970
GRN206.311Aphasia, primary progressive,607485
GRN206.311Ceroid lipofuscinosis, neuronal, 11614706
GRN206.311Frontotemporal lobar degeneration with ubiquitin-positive inclusions,607485
HADH120.80.970.953-hydroxyacyl-CoA dehydrogenase deficiency,231530
HADH120.80.970.95Hyperinsulinemic hypoglycemia, familial, 4609975
HCN1142.60.990.98Epileptic encephalopathy, early infantile, 24615871
HDAC4119.70.990.99No OMIM phenotype615871
HLCS193.111Holocarboxylase synthetase deficiency,253270
HNRNPU136.60.990.97No OMIM phenotype253270
HNRNPU136.60.990.97Lennox-Gastaut syndrome (Allen -2013 Nature 501,217)253270
HNRNPU136.60.990.97Fever-associated epilepsy (Hartmann -2015 Epilepsia 56,e26)253270
HNRNPU136.60.990.97Infantile spasms (Du -2014 BMC Med Genet 15,62)253270
HNRNPU136.60.990.97Speech delay,seizures and CNS anomalies (Caliebe -2010 Eur J Med Genet 53,179)253270
HNRNPU136.60.990.97?Seizures (Ballif -2012 Hum Genet 131,145)253270
HNRNPU136.60.990.97Epileptic encephalopathy (Mefford -2011 Ann Neurol 70,974)253270
HNRNPU136.60.990.97Preaxial polydactyly (Gupta -2014 Am J Med Genet A 164A,186)253270
HNRNPU136.60.990.97Intellectual disability & seizures (Thierry -2012 Am J Med Genet A 158A,1633)253270
HNRNPU136.60.990.97Thin corpus callosum,psychomotor delay & seizures (Selmer -2012 Eur J Med Genet 55,715)253270
HNRNPU136.60.990.97?Developmental delay and intellectual disability (King -2014 Genome Res 24,673)253270
HNRNPU136.60.990.97?Intellectual disability (Hamdan -2014 PLoS Genet 10,e1004772)
HNRNPU136.60.990.97?Intellectual disability,epilepsy,panhypopituitarism,hypertension & other anomalies (Zhu -2015 Genet1004772)
HNRNPU136.60.990.97Med)1004772)
HSD17B10120.310.9817-beta-hydroxysteroid dehydrogenase X deficiency,300438
HSD17B10120.310.98?Mental retardation, X-linked syndromic 10300220
HSD17B4110.30.940.91D-bifunctional protein deficiency,261515
HSD17B4110.30.940.91Perrault syndrome 1233400
IDH2108.80.990.98D-2-hydroxyglutaric aciduria 2613657
IER3IP160.90.860.78Microcephaly, epilepsy, and diabetes syndrome,614231
IFIH11300.980.96Aicardi-Goutieres syndrome 7615846
IFIH11300.980.96Singleton-Merten syndrome 1182250
IQSEC272.20.940.86Mental retardation, X-linked 1/78,309530
JAM3166.60.990.98Hemorrhagic destruction of the brain, subependymal calcification, and cataracts,613730
KANSL194.70.940.89Koolen-De Vries syndrome,610443
KCNA1178.710.99Episodic ataxia/myokymia syndrome,160120
KCNA2180.711Epileptic encephalopathy, early infantile, 32616366
KCNB1149.410.99Epileptic encephalopathy, early infantile, 26616056
KCNC1213.910.99Epilepsy, progressive myoclonic 7616187
KCNH1198.910.99Temple-Baraitser syndrome,611816
KCNH1198.910.99Zimmermann-Laband syndrome 1135500
KCNJ1022910.99Enlarged vestibular aqueduct, digenic,600791
KCNJ1022910.99SESAME syndrome,612780
KCNJ11302.711Diabetes mellitus, permanent neonatal, with neurologic features,606176
KCNJ11302.711Diabetes mellitus, transient neonatal, 3610582
KCNJ11302.711Diabetes, permanent neonatal,606176
KCNJ11302.711Hyperinsulinemic hypoglycemia, familial, 2601820
KCNJ11302.711Maturity-onset diabetes of the young, type 13616329
KCNJ11302.711{Diabetes mellitus, type 2 susceptibility to},125853
KCNMA1158.710.99Generalized epilepsy and paroxysmal dyskinesia,609446
KCNQ2103.90.980.96Epileptic encephalopathy, early infantile, 7613720
KCNQ2103.90.980.96Myokymia,121200
KCNQ2103.90.980.96Seizures, benign neonatal, 1121200
KCNQ3117.60.990.96Seizures, benign neonatal, type 2121201
KCNT1129.20.950.93Epilepsy, nocturnal frontal lobe, 5615005
KCNT1129.20.950.93Epileptic encephalopathy, early infantile, 14614959
KCTD7144.90.930.92Epilepsy, progressive myoclonic 3 with or without intracellular inclusions,611726
KDM5C128.30.980.95Mental retardation, X-linked, syndromic, Claes-Jensen type,300534
KIAA202218310.99Mental retardation, X-linked 98300912
KPTN118.210.99Mental retardation, autosomal recessive 41615637
LGI1203.40.980.95Epilepsy, familial temporal lobe, 1600512
LIAS159.60.990.95Hyperglycinemia, lactic acidosis, and seizures,614462
MBD5202.710.99Mental retardation, autosomal dominant 1156200
MECP21000.990.94Encephalopathy, neonatal severe,300673
MECP21000.990.94Mental retardation, X-linked syndromic, Lubs type,300260
MECP21000.990.94Mental retardation, X-linked, syndromic 13300055
MECP21000.990.94Rett syndrome,312750
MECP21000.990.94Rett syndrome, atypical,312750
MECP21000.990.94Rett syndrome, preserved speech variant,312750
MECP21000.990.94{Autism susceptibility, X-linked 3},300496
MED12116.50.980.95Lujan-Fryns syndrome,309520
MED12116.50.980.95Ohdo syndrome, X-linked,300895
MED12116.50.980.95Opitz-Kaveggia syndrome,305450
MEF2C142.40.980.93Chromosome 5q14,3 deletion syndrome,613443
MEF2C142.40.980.93Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations,613443
MFSD8137.10.990.98Ceroid lipofuscinosis, neuronal, 7610951
MFSD8137.10.990.98Macular dystrophy with central cone involvement,616170
MOCS192.20.980.93Molybdenum cofactor deficiency A,252150
MOCS2156.70.990.98Molybdenum cofactor deficiency B,252160
MPDU1131.910.99Congenital disorder of glycosylation, type If,609180
MTHFR153.210.99Homocystinuria due to MTHFR deficiency,236250
MTHFR153.210.99{Neural tube defects, susceptibility to},601634
MTHFR153.210.99{Schizophrenia, susceptibility to},181500
MTHFR153.210.99{Thromboembolism, susceptibility to},188050
MTHFR153.210.99{Vascular disease, susceptibility to}188050
MTOR152.810.99Smith-Kingsmore syndrome,616638
NDUFA1236.810.99Mitochondrial complex I deficiency,252010
NDUFA1195.10.990.94Mitochondrial complex I deficiency,252010
NDUFAF1120.710.99Mitochondrial complex I deficiency,252010
NDUFAF259.80.810.67Leigh syndrome,256000
NDUFAF259.80.810.67Mitochondrial complex I deficiency,252010
NDUFAF3122.510.99Mitochondrial complex I deficiency,252010
NDUFAF4103.90.980.91Mitochondrial complex I deficiency,252010
NDUFAF5104.70.970.94Mitochondrial complex 1 deficiency,252010
NDUFB323.30.910.56Mitochondrial complex I deficiency,252010
NDUFB9128.20.990.97?Mitochondrial complex I deficiency,252010
NDUFS1154.70.990.98Mitochondrial complex I deficiency,252010
NDUFS2120.410.99Mitochondrial complex I deficiency,252010
NDUFS3151.10.90.9Leigh syndrome due to mitochondrial complex I deficiency,256000
NDUFS3151.10.90.9Mitochondrial complex I deficiency,252010
NDUFS4175.110.98Leigh syndrome,256000
NDUFS4175.110.98Mitochondrial complex I deficiency,252010
NDUFS6138.10.990.99Mitochondrial complex I deficiency,252010
NDUFV1168.60.990.97Mitochondrial complex I deficiency,252010
NDUFV274.10.840.62Mitochondrial complex I deficiency,252010
NECAP1133.211?Epileptic encephalopathy, early infantile, 21615833
NEDD4L163.60.990.97No OMIM phenotype615833
NEDD4L163.60.990.97{Essential hypertension, association with} (Russo -2005 Hypertension 46,488)615833
NEDD4L163.60.990.97Epilepsy,photosensitive generalised (Dibbens (2007),Genes Brain Behav 6,750)615833
NEDD4L163.60.990.97Infantile spasms (Allen -2013 Nature 501,217)615833
NEDD4L163.60.990.97Impaired ENaC regulation (Fouladkou -2004 Am J Physiol Renal Physiol 287,F550)615833
NGLY1140.80.990.98Congenital disorder of deglycosylation,615273
NHLRC1174.410.99Epilepsy, progressive myoclonic 2B (Lafora),254780
NRXN11820.990.97Pitt-Hopkins-like syndrome 2614325
NRXN11820.990.97{Schizophrenia, susceptibility to, 17},614332
NUBPL101.70.90.85Mitochondrial complex I deficiency,252010
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
OPHN1113.40.990.96Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance,300486
PAK395.90.970.91Mental retardation, X-linked 30/47,300558
PC162.80.990.97Pyruvate carboxylase deficiency,266150
PCDH19226.410.99Epileptic encephalopathy, early infantile, 9300088
PDHA1127.80.970.92Pyruvate dehydrogenase E1-alpha deficiency,312170
PDHB1440.980.95Pyruvate dehydrogenase E1-beta deficiency,614111
PDP1209.611Pyruvate dehydrogenase phosphatase deficiency,608782
PDX135.90.910.71MODY, type IV,606392
PDX135.90.910.71Pancreatic agenesis 1260370
PDX135.90.910.71{Diabetes mellitus, type II, susceptibility to},125853
PET100127.60.950.82Mitochondrial complex IV deficiency,220110
PEX1123.40.970.95Heimler syndrome 1234580
PEX1123.40.970.95Peroxisome biogenesis disorder 1A (Zellweger),214100
PEX1123.40.970.95Peroxisome biogenesis disorder 1B (NALD/IRD),601539
PEX10118.30.970.93Peroxisome biogenesis disorder 6A (Zellweger),614870
PEX10118.30.970.93Peroxisome biogenesis disorder 6B,614871
PEX12165.410.99Peroxisome biogenesis disorder 3A (Zellweger),614859
PEX12165.410.99Peroxisome biogenesis disorder 3B,266510
PEX13212.20.990.98Peroxisome biogenesis disorder 11A (Zellweger),614883
PEX13212.20.990.98Peroxisome biogenesis disorder 11B,614885
PEX14143.60.990.98Peroxisome biogenesis disorder 13A (Zellweger),614887
PEX16138.50.960.92Peroxisome biogenesis disorder 8A, (Zellweger),614876
PEX16138.50.960.92Peroxisome biogenesis disorder 8B,614877
PEX1912110.99Peroxisome biogenesis disorder 12A (Zellweger),614886
PEX2686.50.990.99Peroxisome biogenesis disorder 7A (Zellweger),614872
PEX2686.50.990.99Peroxisome biogenesis disorder 7B,614873
PEX3108.80.980.94Peroxisome biogenesis disorder 10A (Zellweger),614882
PEX5126.70.990.97Peroxisome biogenesis disorder 2A (Zellweger),214110
PEX5126.70.990.97Peroxisome biogenesis disorder 2B,202370
PEX5126.70.990.97Rhizomelic chondrodysplasia punctata, type 5616716
PEX6920.90.84Heimler syndrome 2616617
PEX6920.90.84Peroxisome biogenesis disorder 4A (Zellweger),614862
PEX6920.90.84Peroxisome biogenesis disorder 4B,614863
PGAP3135.70.980.95Hyperphosphatasia with mental retardation syndrome 4615716
PHF677.90.920.83Borjeson-Forssman-Lehmann syndrome,301900
PHGDH138.610.99Neu-Laxova syndrome 1256520
PHGDH138.610.99Phosphoglycerate dehydrogenase deficiency,601815
PIGA102.10.920.84Multiple congenital anomalies-hypotonia-seizures syndrome 2300868
PIGA102.10.920.84Paroxysmal nocturnal hemoglobinuria, somatic,300818
PIGN128.60.950.89Multiple congenital anomalies-hypotonia-seizures syndrome 1614080
PIGO140.610.99Hyperphosphatasia with mental retardation syndrome 2614749
PIGT174.60.990.99Multiple congenital anomalies-hypotonia-seizures syndrome 3615398
PIGT174.60.990.99?Paroxysmal nocturnal hemoglobinuria 2615399
PLA2G6132.40.990.98Infantile neuroaxonal dystrophy 1256600
PLA2G6132.40.990.98Neurodegeneration with brain iron accumulation 2B,610217
PLA2G6132.40.990.98Parkinson disease 14 autosomal recessive,612953
PLCB1177.30.990.99Epileptic encephalopathy, early infantile, 12613722
PLP1162.110.99Pelizaeus-Merzbacher disease,312080
PLP1162.110.99Spastic paraplegia 2 X-linked,312920
PMM2178.40.990.99Congenital disorder of glycosylation, type Ia,212065
PNKP98.40.990.97Ataxia-oculomotor apraxia 4616267
PNKP98.40.990.97Microcephaly, seizures, and developmental delay,613402
PNPO84.210.99Pyridoxamine 5'-phosphate oxidase deficiency,610090
POLG126.20.990.99Mitochondrial DNA depletion syndrome 4A (Alpers type),203700
POLG126.20.990.99Mitochondrial DNA depletion syndrome 4B (MNGIE type),613662
POLG126.20.990.99Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE),607459
POLG126.20.990.99Progressive external ophthalmoplegia, autosomal dominant 1157640
POLG126.20.990.99Progressive external ophthalmoplegia, autosomal recessive 1258450
PPP2R1A151.60.930.92Mental retardation, autosomal dominant 36616362
PPT1190.411Ceroid lipofuscinosis, neuronal, 1256730
PQBP1174.30.970.96Renpenning syndrome,309500
PRICKLE1137.211Epilepsy, progressive myoclonic 1B,612437
PRICKLE2143.310.99No OMIM phenotype612437
PRICKLE2143.310.99?Autism spectrum disorder (Sowers -2013 Mol Psychiatry 18 1077)612437
PRICKLE2143.310.99?Myoclonus epilepsy (Tao -2011 Am J Hum Genet 88,138)612437
PRRT280.70.990.98Convulsions, familial infantile, with paroxysmal choreoathetosis,602066
PRRT280.70.990.98Episodic kinesigenic dyskinesia 1128200
PRRT280.70.990.98Seizures, benign familial infantile, 2605751
PURA125.20.980.95Mental retardation, autosomal dominant 31616158
PYCR2137.60.990.98Leukodystrophy, hypomyelinating, 10616420
QARS167.310.99Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy,615760
RAB39B139.410.99Mental retardation, X-linked 72300271
RAB39B139.410.99?Waisman syndrome,311510
RARS2126.30.990.98Pontocerebellar hypoplasia, type 6611523
RNASEH2A149.310.99Aicardi-Goutieres syndrome 4610333
RNASEH2B125.10.940.84Aicardi-Goutieres syndrome 2610181
RNASEH2C207.60.990.97Aicardi-Goutieres syndrome 3610329
ROGDI1340.970.95Kohlschutter-Tonz syndrome,226750
RPS6KA399.50.940.87Coffin-Lowry syndrome,303600
RPS6KA399.50.940.87Mental retardation, X-linked 19300844
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 5612075
RRM2B148.40.990.97Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5613077
SAMHD1149.90.990.98Aicardi-Goutieres syndrome 5612952
SAMHD1149.90.990.98?Chilblain lupus 2614415
SCARB2138.90.990.98Epilepsy, progressive myoclonic 4 with or without renal failure,254900
SCN1A157.30.990.98Dravet syndrome,607208
SCN1A157.30.990.98Epilepsy, generalized, with febrile seizures plus, type 2604403
SCN1A157.30.990.98Febrile seizures, familial, 3A,604403
SCN1A157.30.990.98Migraine, familial hemiplegic, 3609634
SCN1B180.20.970.96Atrial fibrillation, familial, 13615377
SCN1B180.20.970.96Brugada syndrome 5612838
SCN1B180.20.970.96Cardiac conduction defect, nonspecific,612838
SCN1B180.20.970.96Epilepsy, generalized, with febrile seizures plus, type 1604233
SCN2A170.40.990.97Epileptic encephalopathy, early infantile, 11613721
SCN2A170.40.990.97Seizures, benign familial infantile, 3607745
SCN8A224.30.990.99Epileptic encephalopathy, early infantile, 13614558
SCN8A224.30.990.99?Cognitive impairment with or without cerebellar ataxia,614306
SIK199.20.980.94Epileptic encephalopathy, early infantile, 30616341
SLC13A5176.911Epileptic encephalopathy, early infantile, 25615905
SLC16A1167.20.990.97Erythrocyte lactate transporter defect,245340
SLC16A1167.20.990.97Hyperinsulinemic hypoglycemia, familial, 7610021
SLC16A1167.20.990.97Monocarboxylate transporter 1 deficiency,616095
SLC19A3191.311Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),616095
SLC19A3191.311Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483
SLC25A184.70.970.9Combined D-2- and L-2-hydroxyglutaric aciduria,615182
SLC25A15228.70.980.95Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome,238970
SLC25A22117.10.990.96Epileptic encephalopathy, early infantile, 3609304
SLC2A1183.511Dystonia 9601042
SLC2A1183.511GLUT1 deficiency syndrome 1 infantile onset, severe,606777
SLC2A1183.511GLUT1 deficiency syndrome 2 childhood onset,612126
SLC2A1183.511Stomatin-deficient cryohydrocytosis with neurologic defects,608885
SLC2A1183.511{Epilepsy, idiopathic generalized, susceptibility to, 12},614847
SLC35A2118.70.990.96Congenital disorder of glycosylation, type IIm,300896
SLC6A1166.110.99Myoclonic-atonic epilepsy,616421
SLC6A861.10.920.82Cerebral creatine deficiency syndrome 1300352
SLC9A6126.90.970.9Mental retardation, X-linked syndromic, Christianson type,300243
SMARCA2131.10.960.94Nicolaides-Baraitser syndrome,601358
SMC1A12010.99Cornelia de Lange syndrome 2,30059601358
SMS70.10.880.76Mental retardation, X-linked, Snyder-Robinson type,309583
SPTAN1139.40.990.98Epileptic encephalopathy, early infantile, 5613477
ST3GAL3193.711Epileptic encephalopathy, early infantile, 15615006
ST3GAL3193.711Mental retardation, autosomal recessive 12611090
ST3GAL5138.40.950.94Amish infantile epilepsy syndrome,609056
STXBP1147.911Epileptic encephalopathy, early infantile, 4612164
SUOX219.511Sulfite oxidase deficiency,272300
SYN179.60.830.7Epilepsy, X-linked, with variable learning disabilities and behavior disorders,300491
SYNGAP1750.950.86Mental retardation, autosomal dominant 5612621
SYP77.80.990.95Mental retardation, X-linked 96300802
SZT2157.50.990.99Epileptic encephalopathy, early infantile, 18615476
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
TBCE151.60.990.98Hypoparathyroidism-retardation-dysmorphism syndrome,241410
TBCE151.60.990.98Kenny-Caffey syndrome, type 1244460
TCF4160.10.990.99Corneal dystrophy, Fuchs endothelial, 3613267
TCF4160.10.990.99Pitt-Hopkins syndrome,610954
TDP2177.70.990.97Spinocerebellar ataxia, autosomal recessive,616949
TPP1158.711Ceroid lipofuscinosis, neuronal, 2204500
TPP1158.711Spinocerebellar ataxia, autosomal recessive 7609270
TREX1272.211Aicardi-Goutieres syndrome 1 dominant and recessive,225750
TREX1272.211Chilblain lupus,610448
TREX1272.211Vasculopathy, retinal, with cerebral leukodystrophy,192315
TREX1272.211{Systemic lupus erythematosus, susceptibility to},152700
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
TUBB2A119.20.990.97Cortical dysplasia, complex, with other brain malformations 5615763
TUBG1185.911Cortical dysplasia, complex, with other brain malformations 4615412
UBE3A103.90.980.93Angelman syndrome,105830
WWOX14810.99Epileptic encephalopathy, early infantile, 28616211
WWOX14810.99Esophageal squamous cell carcinoma, somatic,133239
WWOX14810.99Spinocrebellar ataxia, autosomal recessive 12614322
ZEB2181.510.99Mowat-Wilson syndrome,235730

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