qGenEx TMV. Panel Trastornos del Movimiento

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

qGenEx TMV analiza 235 genes asociados a trastornos del movimiento 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 
AARS2132.90.990.98Combined oxidative phosphorylation deficiency 8614096
AARS2132.90.990.98Leukoencephalopathy, progressive, with ovarian failure,615889
ABCB71560.990.97Anemia, sideroblastic, with ataxia,301310
ABCD1960.770.68Adrenoleukodystrophy,300100
ABCD1960.770.68Adrenomyeloneuropathy, adult,300100
ABHD12114.90.970.91Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract,612674
ACTB134.10.980.93Baraitser-Winter syndrome 1243310
ACTB134.10.980.93?Dystonia, juvenile-onset,607371
ADAR131.710.99Aicardi-Goutieres syndrome 6615010
ADAR131.710.99Dyschromatosis symmetrica hereditaria,127400
ADCK31460.990.98Coenzyme Q10 deficiency, primary, 4612016
ADCY5144.80.930.91Dyskinesia, familial, with facial myokymia,606703
AFG3L2126.40.920.85Ataxia, spastic, 5 autosomal recessive,614487
AFG3L2126.40.920.85Spinocerebellar ataxia 28610246
ALDH18A114310.99Cutis laxa, autosomal dominant 3616603
ALDH18A114310.99Cutis laxa, autosomal recessive, type IIIA,219150
ALDH18A114310.99Spastic paraplegia 9A, autosomal dominant,601162
ALDH18A114310.99Spastic paraplegia 9B, autosomal recessive,616586
ALDH3A2157.410.99Sjogren-Larsson syndrome,270200
ALS2184.70.990.99Amyotrophic lateral sclerosis 2 juvenile,205100
ALS2184.70.990.99Primary lateral sclerosis, juvenile,606353
ALS2184.70.990.99Spastic paralysis, infantile onset ascending,607225
ANO10126.60.990.96Spinocerebellar ataxia, autosomal recessive 10613728
ANO31750.990.97Dystonia 24615034
AP4B116610.99Spastic paraplegia 47 autosomal recessive,614066
AP4E1117.30.990.96Spastic paraplegia 51 autosomal recessive,613744
AP4E1117.30.990.96Stuttering, familial persistent, 1184450
AP4M1125.90.990.97Spastic paraplegia 50 autosomal recessive,612936
AP4S178.30.740.68Spastic paraplegia 52 autosomal recessive,614067
AP5Z1950.990.98Spastic paraplegia 48 autosomal recessive,613647
APTX136.60.930.9Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia,208920
ARG1172.111Argininemia,207800
ARSA111.510.99Metachromatic leukodystrophy,250100
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
ASPA151.70.990.92Canavan disease,271900
ATCAY166.610.99Ataxia, cerebellar, Cayman type,601238
ATL1195.90.980.95Neuropathy, hereditary sensory, type ID,613708
ATL1195.90.980.95Spastic paraplegia 3A, autosomal dominant,182600
ATM124.30.980.93Ataxia-telangiectasia,208900
ATM124.30.980.93Lymphoma, B-cell non-Hodgkin, somatic208900
ATM124.30.980.93Lymphoma, mantle cell, somatic208900
ATM124.30.980.93T-cell prolymphocytic leukemia, somatic208900
ATM124.30.980.93{Breast cancer, susceptibility to},114480
ATP13A21290.990.98Kufor-Rakeb syndrome,606693
ATP13A21290.990.98?Ceroid lipofuscinosis, neuronal, 12606693
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
ATP2B3161.50.990.98?Spinocerebellar ataxia, X-linked 1302500
ATP7B1730.990.99Wilson disease,277900
B4GALNT1163.90.990.96Spastic paraplegia 26 autosomal recessive,609195
BCAP3174.10.930.81Deafness, dystonia, and cerebral hypomyelination,300475
BCKDHA186.90.990.99Maple syrup urine disease, type Ia,248600
BCKDHB124.40.890.81Maple syrup urine disease, type Ib,248600
BSCL2126.410.99Encephalopathy, progressive, with or without lipodystrophy,615924
BSCL2126.410.99Lipodystrophy, congenital generalized, type 2269700
BSCL2126.410.99Neuropathy, distal hereditary motor, type VA,600794
BSCL2126.410.99Silver spastic paraplegia syndrome,270685
C10orf2193.611Mitochondrial DNA depletion syndrome 7 (hepatocerebral type),271245
C10orf2193.611Perrault syndrome 5616138
C10orf2193.611Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3609286
C12orf6591.30.970.92Combined oxidative phosphorylation deficiency 7613559
C12orf6591.30.970.92Spastic paraplegia 55 autosomal recessive,615035
C19orf12100.810.99Neurodegeneration with brain iron accumulation 4614298
C19orf12100.810.99?Spastic paraplegia 43 autosomal recessive,615043
CA8120.50.950.9Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3613227
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
CACNA1G147.80.990.98Spinocerebellar ataxia 42616795
CACNB4126.80.980.97Episodic ataxia, type 5613855
CACNB4126.80.980.97{Epilepsy, idiopathic generalized, susceptibility to, 9},607682
CACNB4126.80.980.97{Epilepsy, juvenile myoclonic, susceptibility to, 6},607682
CAMTA1193.20.990.99Cerebellar ataxia, nonprogressive, with mental retardation,614756
CAPN1169.411Spastic paraplegia 76 autosomal recessive,616907
CCT516610.99Neuropathy, hereditary sensory, with spastic paraplegia,256840
CIZ1176.80.990.97No OMIM phenotype256840
CIZ1176.80.990.97Cervical dystonia, primary (Xiao -2012 Ann Neurol 71 458)256840
COASY16811Neurodegeneration with brain iron accumulation 6615643
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
COQ284.50.950.92Coenzyme Q10 deficiency, primary, 1607426
COQ284.50.950.92{Multiple system atrophy, susceptibility to},146500
COQ9105.70.990.98Coenzyme Q10 deficiency, primary, 5614654
COX2052.30.90.73Mitochondrial complex IV deficiency,220110
CP1410.940.9Cerebellar ataxia,604290
CP1410.940.9Hemosiderosis, systemic, due to aceruloplasminemia,604290
CP1410.940.9[Hypoceruloplasminemia, hereditary],604290
CSF1R144.40.990.98Leukoencephalopathy, diffuse hereditary, with spheroids,221820
CSTB120.610.99Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg),254800
CYP27A1188.70.970.95Cerebrotendinous xanthomatosis,213700
CYP2U1140.90.950.92Spastic paraplegia 56 autosomal recessive,615030
CYP7B1106.90.950.9Bile acid synthesis defect, congenital, 3613812
CYP7B1106.90.950.9Spastic paraplegia 5A, autosomal recessive,270800
DBT122.50.970.92Maple syrup urine disease, type II,248600
DCAF17110.10.980.92Woodhouse-Sakati syndrome,241080
DCTN1143.10.990.99Neuropathy, distal hereditary motor, type VIIB,607641
DCTN1143.10.990.99Perry syndrome,168605
DCTN1143.10.990.99{Amyotrophic lateral sclerosis, susceptibility to},105400
DDC118.60.990.96Aromatic L-amino acid decarboxylase deficiency,608643
DDHD1166.10.960.94Spastic paraplegia 28 autosomal recessive,609340
DDHD2184.80.990.96Spastic paraplegia 54 autosomal recessive,615033
DLAT102.40.990.95Pyruvate dehydrogenase E2 deficiency,245348
DLD1420.990.97Dihydrolipoamide dehydrogenase deficiency,246900
DNMT11290.990.98Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,604121
DNMT11290.990.98Neuropathy, hereditary sensory, type IE,614116
EIF2B1156.310.99Leukoencephalopathy with vanishing white matter,603896
EIF2B2157.210.99Leukoencephalopathy with vanishing white matter,603896
EIF2B2157.210.99Ovarioleukodystrophy,603896
EIF2B318011Leukoencephalopathy with vanishing white matter,603896
EIF2B4161.80.990.99Leukoencephaly with vanishing white matter,603896
EIF2B4161.80.990.99Ovarioleukodystrophy,603896
EIF2B5133.80.990.98Leukoencephalopathy with vanishing white matter,603896
EIF2B5133.80.990.98Ovarioleukodystrophy,603896
EIF4G1144.40.990.99{Parkinson disease 18},614251
ELOVL5129.510.99Spinocerebellar ataxia 38615957
ERLIN2167.70.990.99Spastic paraplegia 18 autosomal recessive,611225
FA2H108.90.940.88Spastic paraplegia 35 autosomal recessive,612319
FAR191.80.960.91Peroxisomal fatty acyl-CoA reductase 1 disorder,616154
FBXO7237.50.990.97Parkinson disease 15 autosomal recessive,260300
FGF142190.990.98Spinocerebellar ataxia 27609307
FLVCR1149.30.990.96Ataxia, posterior column, with retinitis pigmentosa,609033
FOLR1166.311Neurodegeneration due to cerebral folate transport deficiency,613068
FRMD7144.20.990.98Nystagmus 1 congenital, X-linked,310700
FRMD7144.20.990.98Nystagmus, infantile periodic alternating, X-linked,310700
FTL131.30.990.92Hyperferritinemia-cataract syndrome,600886
FTL131.30.990.92L-ferritin deficiency, dominant and recessive,615604
FTL131.30.990.92Neurodegeneration with brain iron accumulation 3606159
GALC112.30.970.93Krabbe disease,245200
GAN210.80.990.99Giant axonal neuropathy-1,256850
GBA237.311Gaucher disease, perinatal lethal,608013
GBA237.311Gaucher disease, type I,230800
GBA237.311Gaucher disease, type II,230900
GBA237.311Gaucher disease, type III,231000
GBA237.311Gaucher disease, type IIIC,231005
GBA237.311{Lewy body dementia, susceptibility to},127750
GBA237.311{Parkinson disease, late-onset, susceptibility to},168600
GBA2187.310.99Spastic paraplegia 46 autosomal recessive,614409
GCDH148.60.930.91Glutaricaciduria, type I,231670
GCH191.20.950.86Dystonia, DOPA-responsive, with or without hyperphenylalaninemia,128230
GCH191.20.950.86Hyperphenylalaninemia, BH4-deficient, B,233910
GFAP110.30.990.98Alexander disease,203450
GJC252.20.850.68Leukodystrophy, hypomyelinating, 2608804
GJC252.20.850.68Lymphedema, hereditary, IC,613480
GJC252.20.850.68Spastic paraplegia 44 autosomal recessive,613206
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
GNAL153.70.950.92Dystonia 25615073
GOSR2143.10.970.95Epilepsy, progressive myoclonic 6614018
GPR14377.70.910.85Nystagmus 6 congenital, X-linked,300814
GPR14377.70.910.85Ocular albinism, type I, Nettleship-Falls type,300500
GPR56173.811Polymicrogyria, bilateral frontoparietal,606854
GPR56173.811Polymicrogyria, bilateral perisylvian,615752
GRID2195.310.99Spinocerebellar ataxia, autosomal recessive 18616204
GRM1194.510.99Spinocerebellar ataxia, autosomal recessive 13614831
HEXB152.60.970.91Sandhoff disease, infantile, juvenile, and adult forms,268800
HPRT175.30.940.84HPRT-related gout,300323
HPRT175.30.940.84Lesch-Nyhan syndrome,300322
HSPD192.70.960.89Leukodystrophy, hypomyelinating, 4612233
HSPD192.70.960.89Spastic paraplegia 13 autosomal dominant,605280
ITPR1176.710.99Gillespie syndrome,206700
ITPR1176.710.99Spinocerebellar ataxia 15606658
ITPR1176.710.99Spinocerebellar ataxia 29 congenital nonprogressive,117360
KCNA1178.710.99Episodic ataxia/myokymia syndrome,160120
KCNC1213.910.99Epilepsy, progressive myoclonic 7616187
KCNC3155.30.710.58Spinocerebellar ataxia 13605259
KCND3207.210.98Brugada syndrome 9616399
KCND3207.210.98Spinocerebellar ataxia 19607346
KCNJ1022910.99Enlarged vestibular aqueduct, digenic,600791
KCNJ1022910.99SESAME syndrome,612780
KCNJ6196.910.99Keppen-Lubinsky syndrome,614098
KCNMA1158.710.99Generalized epilepsy and paroxysmal dyskinesia,609446
KCTD7144.90.930.92Epilepsy, progressive myoclonic 3 with or without intracellular inclusions,611726
KIAA0196159.10.980.96Ritscher-Schinzel syndrome 1220210
KIAA0196159.10.980.96Spastic paraplegia 8 autosomal dominant,603563
KIAA0226116.40.980.97?Spinocerebellar ataxia, autosomal recessive 15615705
KIAA202218310.99Mental retardation, X-linked 98300912
KIF1A134.80.990.97Mental retardation, autosomal dominant 9614255
KIF1A134.80.990.97Neuropathy, hereditary sensory, type IIC,614213
KIF1A134.80.990.97Spastic paraplegia 30 autosomal recessive,610357
KIF1C126.40.990.99Spastic ataxia 2 autosomal recessive,611302
KIF5A147.510.99Spastic paraplegia 10 autosomal dominant,604187
KMT2B135.20.940.91No OMIM phenotype604187
KMT2B135.20.940.91Kleefstra-like syndrome (Agha -2014 PLoS One 9,e112687)
L1CAM157.70.990.98Corpus callosum, partial agenesis of,304100
L1CAM157.70.990.98CRASH syndrome,303350
L1CAM157.70.990.98Hydrocephalus due to aqueductal stenosis,307000
L1CAM157.70.990.98Hydrocephalus with congenital idiopathic intestinal pseudoobstruction,307000
L1CAM157.70.990.98Hydrocephalus with Hirschsprung disease,307000
L1CAM157.70.990.98MASA syndrome,303350
MARS2168.811Spastic ataxia 3 autosomal recessive,611390
MARS2168.811?Combined oxidative phosphorylation deficiency 25616430
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
MICU11400.950.91Myopathy with extrapyramidal signs,615673
MMADHC82.80.870.74Homocystinuria, cblD type, variant 1277410
MMADHC82.80.870.74Methylmalonic aciduria and homocystinuria, cblD type,277410
MMADHC82.80.870.74Methylmalonic aciduria, cblD type, variant 2277410
MRE11A57.60.950.85Ataxia-telangiectasia-like disorder,604391
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
MTPAP1330.980.93Ataxia, spastic, 4613672
MTTP155.80.990.98Abetalipoproteinemia,200100
MTTP155.80.990.98{Metabolic syndrome, protection against},605552
NIPA1173.40.990.99Spastic paraplegia 6 autosomal dominant,600363
NKX2-155.60.980.93Chorea, hereditary benign,118700
NKX2-155.60.980.93Choreoathetosis, hypothyroidism, and neonatal respiratory distress,610978
NKX2-155.60.980.93{Thyroid cancer, monmedullary, 1},188550
NOL3950.940.87Myoclonus, familial cortical,614937
NPC1162.10.990.98Niemann-Pick disease, type C1,257220
NPC1162.10.990.98Niemann-Pick disease, type D,257220
NPC1162.10.990.98{Nasopharyngeal carcinoma 1}257220
NPC214410.99Niemann-pick disease, type C2,607625
NUP62126.90.990.99Striatonigral degeneration, infantile,271930
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
PANK2177.50.990.96HARP syndrome,607236
PANK2177.50.990.96Neurodegeneration with brain iron accumulation 1234200
PAX6156.110.99Aniridia,106210
PAX6156.110.99Cataract with late-onset corneal dystrophy,106210
PAX6156.110.99Coloboma of optic nerve,120430
PAX6156.110.99Coloboma, ocular,120200
PAX6156.110.99Foveal hypoplasia 1136520
PAX6156.110.99Keratitis,148190
PAX6156.110.99Optic nerve hypoplasia,165550
PAX6156.110.99Peters anomaly,604229
PAX6156.110.99?Morning glory disc anomaly,120430
PDE10A160.60.990.99Dyskinesia,limb and orofacial,infantile-onset,616921
PDE10A160.60.990.99Striatal degeneration,autosomal dominant,616922
PDE8B121.80.990.98Pigmented nodular adrenocortical disease, primary, 3614190
PDE8B121.80.990.98Striatal degeneration, autosomal dominant,609161
PDGFB107.810.99Basal ganglia calcification, idiopathic, 5615483
PDGFB107.810.99Dermatofibrosarcoma protuberans,607907
PDGFB107.810.99Meningioma, SIS-related,607174
PDGFRB166.40.990.97Basal ganglia calcification, idiopathic, 4615007
PDGFRB166.40.990.97Kosaki overgrowth syndrome,616592
PDGFRB166.40.990.97Myeloproliferative disorder with eosinophilia,131440
PDGFRB166.40.990.97Myofibromatosis, infantile, 1228550
PDGFRB166.40.990.97Premature aging syndrome, Penttinen type,601812
PDHA1127.80.970.92Pyruvate dehydrogenase E1-alpha deficiency,312170
PDHX136.10.980.96Lacticacidemia due to PDX1 deficiency,245349
PDSS1134.80.910.85Coenzyme Q10 deficiency, primary, 2614651
PDSS2131.30.970.93Coenzyme Q10 deficiency, primary, 3614652
PDYN121.711Spinocerebellar ataxia 23610245
PEX10118.30.970.93Peroxisome biogenesis disorder 6A (Zellweger),614870
PEX10118.30.970.93Peroxisome biogenesis disorder 6B,614871
PEX7138.50.890.85Peroxisome biogenesis disorder 9B,614879
PEX7138.50.890.85Rhizomelic chondrodysplasia punctata, type 1215100
PHYH86.50.980.92Refsum disease,266500
PIK3R5123.110.99Ataxia-oculomotor apraxia 3615217
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
PLP1162.110.99Pelizaeus-Merzbacher disease,312080
PLP1162.110.99Spastic paraplegia 2 X-linked,312920
PMM2178.40.990.99Congenital disorder of glycosylation, type Ia,212065
PNKD107.70.990.98Paroxysmal nonkinesigenic dyskinesia,118800
PNKP98.40.990.97Ataxia-oculomotor apraxia 4616267
PNKP98.40.990.97Microcephaly, seizures, and developmental delay,613402
PNPLA6140.90.990.98Boucher-Neuhauser syndrome,215470
PNPLA6140.90.990.98Oliver-McFarlane syndrome,275400
PNPLA6140.90.990.98Spastic paraplegia 39 autosomal recessive,612020
PNPLA6140.90.990.98?Laurence-Moon syndrome,245800
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
POLR3A162.210.99Leukodystrophy, hypomyelinating, 7 with or without oligodontia and/or hypogonadotropic258450
POLR3A162.210.99hypogonadism,607694
POLR3B168.90.990.98Leukodystrophy, hypomyelinating, 8 with or without oligodontia and/or hypogonadotropic607694
POLR3B168.90.990.98hypogonadism,614381
PRKCG127.50.970.93Spinocerebellar ataxia 14605361
PRKRA161.30.990.99Dystonia 16612067
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
PYCR2137.60.990.98Leukodystrophy, hypomyelinating, 10616420
REEP1113.80.980.96Spastic paraplegia 31 autosomal dominant,610250
REEP1113.80.980.96?Neuronopathy, distal hereditary motor, type VB,614751
RNASEH2A149.310.99Aicardi-Goutieres syndrome 4610333
RNASEH2B125.10.940.84Aicardi-Goutieres syndrome 2610181
RNASEH2C207.60.990.97Aicardi-Goutieres syndrome 3610329
RNF170149.40.980.93Ataxia, sensory, 1 autosomal dominant,608984
RNF216154.30.990.98Cerebellar ataxia and hypogonadotropic hypogonadism,212840
RTN2113.20.980.95Spastic paraplegia 12 autosomal dominant,604805
SACS170.810.99Spastic ataxia, Charlevoix-Saguenay type,270550
SAMHD1149.90.990.98Aicardi-Goutieres syndrome 5612952
SAMHD1149.90.990.98?Chilblain lupus 2614415
SCN8A224.30.990.99Epileptic encephalopathy, early infantile, 13614558
SCN8A224.30.990.99?Cognitive impairment with or without cerebellar ataxia,614306
SERAC1125.50.980.943-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome,614739
SETX187.10.990.99Amyotrophic lateral sclerosis 4 juvenile,602433
SETX187.10.990.99Spinocerebellar ataxia, autosomal recessive 1606002
SGCE95.40.940.89Dystonia-11, myoclonic,159900
SIL1173.80.990.98Marinesco-Sjogren syndrome,248800
SLC12A6169.610.99Agenesis of the corpus callosum with peripheral neuropathy,218000
SLC16A269.60.960.86Allan-Herndon-Dudley syndrome,300523
SLC19A3191.311Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),300523
SLC19A3191.311Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483
SLC1A3153.611Episodic ataxia, type 6612656
SLC20A2122.20.990.95Basal ganglia calcification, idiopathic, 1213600
SLC25A15228.70.980.95Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome,238970
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
SLC30A10192.10.990.99Hypermanganesemia with dystonia 1613280
SLC33A1148.50.960.89Congenital cataracts, hearing loss, and neurodegeneration,614482
SLC33A1148.50.960.89Spastic paraplegia 42 autosomal dominant,612539
SLC39A14122.30.990.98Hypermanganesemia with dystonia 2617013
SLC52A2196.411Brown-Vialetto-Van Laere syndrome 2614707
SLC52A3124.510.99Brown-Vialetto-Van Laere syndrome 1211530
SLC52A3124.510.99Fazio-Londe disease,211500
SLC6A3153.510.99Parkinsonism-dystonia, infantile,613135
SLC6A3153.510.99{Nicotine dependence, protection against},188890
SLC9A1169.611?Lichtenstein-Knorr syndrome,616291
SMPD1134.30.990.97Niemann-Pick disease, type A,257200
SMPD1134.30.990.97Niemann-Pick disease, type B,607616
SNCA15011Dementia, Lewy body,127750
SNCA15011Parkinson disease 1168601
SNCA15011Parkinson disease 4605543
SNX1476.20.920.82Spinocerebellar ataxia, autosomal recessive 20616354
SPAST71.80.930.82Spastic paraplegia 4 autosomal dominant,182601
SPG11146.90.980.96Amyotrophic lateral sclerosis 5 juvenile,602099
SPG11146.90.980.96Charcot-Marie-Tooth disease, axonal, type 2X,616668
SPG11146.90.980.96Spastic paraplegia 11 autosomal recessive,604360
SPG20166.40.990.97Troyer syndrome,275900
SPG21146.10.990.96Mast syndrome,248900
SPG7127.90.960.92Spastic paraplegia 7 autosomal recessive,607259
SPR183.90.970.89Dystonia, dopa-responsive, due to sepiapterin reductase deficiency,612716
SPTBN2122.10.990.99Spinocerebellar ataxia 5600224
SPTBN2122.10.990.99Spinocerebellar ataxia, autosomal recessive 14615386
STUB11740.990.99Spinocerebellar ataxia, autosomal recessive 16615768
SUOX219.511Sulfite oxidase deficiency,272300
SYNE1156.80.990.99Emery-Dreifuss muscular dystrophy 4 autosomal dominant,612998
SYNE1156.80.990.99Spinocerebellar ataxia, autosomal recessive 8610743
TAF1141.10.990.97Dystonia-Parkinsonism, X-linked,314250
TAF1141.10.990.97Mental retardation, X-linked, syndromic 33300966
TDP11320.980.95Spinocerebellar ataxia, autosomal recessive with axonal neuropathy,607250
TECPR2165.710.99Spastic paraplegia 49 autosomal recessive,615031
TGM6153.70.990.97Spinocerebellar ataxia 35613908
TH83.60.970.92Segawa syndrome, recessive,605407
THAP1152.311Dystonia 6 torsion,602629
TIMM8A45.50.870.7Jensen syndrome,311150
TIMM8A45.50.870.7Mohr-Tranebjaerg syndrome,304700
TMEM240130.510.99Spinocerebellar ataxia 21607454
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
TOR1A233.510.99Dystonia-1, torsion,128100
TOR1A233.510.99{Dystonia-1, modifier of}128100
TPP1158.711Ceroid lipofuscinosis, neuronal, 2204500
TPP1158.711Spinocerebellar ataxia, autosomal recessive 7609270
TREM2134.30.990.98Nasu-Hakola disease,221770
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
TTBK2169.410.99Spinocerebellar ataxia 11604432
TTC19106.20.90.81Mitochondrial complex III deficiency, nuclear type 2615157
TTPA122.70.930.84Ataxia with isolated vitamin E deficiency,277460
TUBB4A1370.960.95Dystonia 4 torsion, autosomal dominant,128101
TUBB4A1370.960.95Leukodystrophy, hypomyelinating, 6612438
TUBG1185.911Cortical dysplasia, complex, with other brain malformations 4615412
TYROBP95.111Nasu-Hakola disease,221770
VAMP1156.311Spastic ataxia 1 autosomal dominant,108600
VCP168.40.990.99Amyotrophic lateral sclerosis 14 with or without frontotemporal dementia,613954
VCP168.40.990.99Charcot-Marie-Tooth disease, type 2Y,616687
VCP168.40.990.99Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1167320
VLDLR244.510.99Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1224050
VPS13A810.930.84Choreoacanthocytosis,200150
VPS37A79.70.860.69Spastic paraplegia 53 autosomal recessive,614898
VRK11470.980.95Pontocerebellar hypoplasia type 1A,607596
WDR4592.90.970.92Neurodegeneration with brain iron accululation 5300894
WDR81171.30.990.99Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185
WWOX14810.99Epileptic encephalopathy, early infantile, 28616211
WWOX14810.99Esophageal squamous cell carcinoma, somatic,133239
WWOX14810.99Spinocrebellar ataxia, autosomal recessive 12614322
XPR1155.90.990.99Basal ganglia calcification, idiopathic, 6616413
ZFYVE26134.10.990.99Spastic paraplegia 15 autosomal recessive,270700
ZFYVE27137.111Spastic paraplegia 33 autosomal dominant,610244
ZNF592140.610.99No OMIM phenotype610244

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