qGenEx EM. Panel Trastornos Mitocondriales

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

qGenEx EM analiza 304 genes asociados a enfermedades mitocondriales usando secuenciación de exoma completo mediante NGS y cubriendo además el ADN mitocondrial de forma específica.

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
ABAT10310.99GABA-transaminase deficiency,613163
ACAD91540.990.96Mitochondrial complex I deficiency due to ACAD9 deficiency,611126
ACO2138.60.960.92Infantile cerebellar-retinal degeneration,614559
ACO2138.60.960.92?Optic atrophy 9616289
ADCK31460.990.98Coenzyme Q10 deficiency, primary, 4612016
ADCK4106.910.99Nephrotic syndrome, type 9615573
AFG3L2126.40.920.85Ataxia, spastic, 5 autosomal recessive,614487
AFG3L2126.40.920.85Spinocerebellar ataxia 28610246
AGK137.60.990.97Cataract 38 autosomal recessive,614691
AGK137.60.990.97Sengers syndrome,212350
AIFM1133.510.99Combined oxidative phosphorylation deficiency 6300816
AIFM1133.510.99Cowchock syndrome,310490
AIFM1133.510.99Deafness, X-linked 5300614
ALDH1B1224.611No OMIM phenotype300614
ALDH1B1224.611Bladder cancer (Nickerson -2014 Clin Cancer Res 20,4935)300614
ANO10126.60.990.96Spinocerebellar ataxia, autosomal recessive 10613728
APOA1BP95.90.990.99No OMIM phenotype613728
APOA1BP95.90.990.99Leukoencephalopathy, lethal infantile (Spiegel -2016 Neurogenetics epub,epub)613728
APOPT180.90.870.84Mitochondrial complex IV deficiency,220110
APTX136.60.930.9Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia,208920
ATAD3A930.890.85No OMIM phenotype208920
ATAD3B86.30.850.78No OMIM phenotype208920
ATP5A181.90.940.85?Combined oxidative phosphorylation deficiency 22616045
ATP5A181.90.940.85?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4615228
ATP5B142.210.99No OMIM phenotype615228
ATP5C1101.20.970.9No OMIM phenotype615228
ATP5D65.30.960.86No OMIM phenotype615228
ATP5E203.211?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3614053
ATP5F186.10.960.86No OMIM phenotype614053
ATP5G1112.310.97No OMIM phenotype614053
ATP5G284.30.990.97No OMIM phenotype614053
ATP5G3125.711No OMIM phenotype614053
ATP5H1060.880.7No OMIM phenotype614053
ATP5I91.611No OMIM phenotype614053
ATP5J73.30.990.92No OMIM phenotype614053
ATP5J2129.90.990.99No OMIM phenotype614053
ATP5L123.50.990.99No OMIM phenotype614053
ATP5L2172.711No OMIM phenotype614053
ATP5O119.20.980.92No OMIM phenotype614053
ATP5S139.810.99No OMIM phenotype614053
ATPAF196.80.820.71No OMIM phenotype614053
ATPAF2114.310.99Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1604273
ATPIF1197.111No OMIM phenotype604273
BCS1L184.411Bjornstad syndrome,262000
BCS1L184.411GRACILE syndrome,603358
BCS1L184.411Leigh syndrome,256000
BCS1L184.411Mitochondrial complex III deficiency, nuclear type 1124000
BOLA1113.611No OMIM phenotype124000
BOLA2105.910.99No OMIM phenotype124000
BOLA3590.910.82Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia,614299
C10orf2193.611Mitochondrial DNA depletion syndrome 7 (hepatocerebral type),271245
C10orf2193.611Perrault syndrome 5616138
C10orf2193.611Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3609286
C11orf83110.910.98?Mitochondrial complex III deficiency, nuclear type 9616111
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
C19orf7064.20.990.97No OMIM phenotype615043
CARS2128.610.99Combined oxidative phosphorylation deficiency 27616672
CEP89155.70.990.97No OMIM phenotype616672
CEP89155.70.990.97Complex IV deficiency,isolated (van Bon -2013 Hum Mol Genet 22,3138)616672
CEP89155.70.990.97?Intellectual disability (Vulto-van Silfhout -2013 Hum Mutat 34,1679)616672
CHCHD1025.80.580.38Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911
CHCHD1025.80.580.38Spinal muscular atrophy, Jokela type,615048
CHCHD1025.80.580.38?Myopathy, isolated mitochondrial, autosomal dominant,616209
CHKB101.20.990.96Muscular dystrophy, congenital, megaconial type,602541
CLPB152.70.960.953-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia,616271
CLPP128.50.990.95Perrault syndrome 3614129
COA194.610.99No OMIM phenotype614129
COA3156.211No OMIM phenotype614129
COA3156.211Neuropathy,exercise intolerance,obesity and short stature (Ostergaard -2015 J Med Genet 52,203614129
COA552.20.850.84?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3616500
COA676.60.950.87Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501
COASY16811Neurodegeneration with brain iron accumulation 6615643
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
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
COX10240.210.99Leigh syndrome due to mitochondrial COX4 deficiency,256000
COX10240.210.99Mitochondrial complex IV deficiency,220110
COX14146.510.99?Mitochondrial complex IV deficiency,220110
COX15105.910.99Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119
COX15105.910.99Leigh syndrome due to cytochrome c oxidase deficiency,256000
COX2052.30.90.73Mitochondrial complex IV deficiency,220110
COX4I1160.611No OMIM phenotype220110
COX4I1160.611?Schizophrenia (Fromer -2014 Nature 506,179)220110
COX4I210711Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis,612714
COX5A47.20.870.65No OMIM phenotype612714
COX5B143.810.99No OMIM phenotype612714
COX6A1205.910.99Charcot-Marie-Tooth disease, recessive intermediate D,616039
COX6A251.60.990.96No OMIM phenotype616039
COX6B1174.511Mitochondrial complex IV deficiency,220110
COX6B26110.98No OMIM phenotype220110
COX6C144.30.990.94No OMIM phenotype220110
COX7A1109.60.990.99No OMIM phenotype220110
COX7A2950.980.93No OMIM phenotype220110
COX7A2950.980.93{insulin secretion,association with} (Olsson -2011 Eur J Endocrinol 164,765)220110
COX7B60.70.760.49Linear skin defects with multiple congenital anomalies,300887
COX7B2305.411No OMIM phenotype300887
COX7C65.40.990.95No OMIM phenotype300887
COX8A120.411?Mitochondrial complex IV deficiency,220110
COX8C180.60.990.96No OMIM phenotype220110
CYC1198.40.950.89Mitochondrial complex III deficiency, nuclear type 6615453
CYCS77.90.990.95Thrombocytopenia 4612004
DARS2137.80.990.99Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation,611105
DDHD1166.10.960.94Spastic paraplegia 28 autosomal recessive,609340
DES138.30.990.98Cardiomyopathy, dilated, 1I,604765
DES138.30.990.98Myopathy, myofibrillar, 1601419
DES138.30.990.98Scapuloperoneal syndrome, neurogenic, Kaeser type,181400
DES138.30.990.98?Muscular dystrophy, limb-girdle, type 2R,615325
DGUOK134.60.990.98Mitochondrial DNA depletion syndrome 3 (hepatocerebral type),251880
DHTKD1162.90.990.972-aminoadipic 2-oxoadipic aciduria,204750
DHTKD1162.90.990.97?Charcot-Marie-Tooth disease, axonal, type 2Q,615025
DLAT102.40.990.95Pyruvate dehydrogenase E2 deficiency,245348
DLD1420.990.97Dihydrolipoamide dehydrogenase deficiency,246900
DLST105.10.930.89No OMIM phenotype246900
DLST105.10.930.89?Diaphragmatic hernia,congenital (Yu -2015 Hum Mol Genet 24,4764)246900
DNA2149.30.990.97Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156
DNA2149.30.990.97?Seckel syndrome 8615807
DNAJC19105.30.970.93-methylglutaconic aciduria, type V,610198
DNAJC31310.990.98?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus,616192
DNM1L131.50.990.96Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission,614388
EARS2110.10.990.97Combined oxidative phosphorylation deficiency 12614924
ECHS112810.99Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency,616277
ECSIT152.80.990.97No OMIM phenotype616277
ECSIT152.80.990.97?Complex I deficiency (Calvo -2010 Nat Genet 42,851)616277
ELAC213310.99Combined oxidative phosphorylation deficiency 17615440
ELAC213310.99{Prostate cancer, hereditary, 2 susceptibility to},614731
ETHE186.40.990.94Ethylmalonic encephalopathy,602473
FARS2224.810.99Combined oxidative phosphorylation deficiency 14614946
FARS2224.810.99?Spastic paraplegia 77 autosomal recessive,617046
FASTKD2135.50.990.97?Mitochondrial complex IV deficiency,220110
FBXL4227.111Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type),615471
FDX1L116.90.980.96No OMIM phenotype615471
FDX1L116.90.980.96Mitochondrial muscle myopathy (Spiegel -2014 Eur J Hum Genet 22,902)615471
FH175.40.920.88Fumarase deficiency,606812
FH175.40.920.88Leiomyomatosis and renal cell cancer,150800
FOXRED1145.110.99Leigh syndrome due to mitochondrial complex I deficiency,256000
FOXRED1145.110.99Mitochondrial complex I deficiency,252010
FXN86.10.860.76Friedreich ataxia with retained reflexes,229300
FXN86.10.860.76Friedreich ataxia,229300
GARS147.80.990.97Charcot-Marie-Tooth disease, type 2D,601472
GARS147.80.990.97Neuropathy, distal hereditary motor, type VA,600794
GATM174.810.99Cerebral creatine deficiency syndrome 3612718
GFER91.80.970.9Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,612718
GFER91.80.970.9Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076
GFM1108.10.980.94Combined oxidative phosphorylation deficiency 1609060
GFM2138.10.980.94No OMIM phenotype609060
GFM2138.10.980.94Leigh syndrome with arthrogryposis multiplex congenita (Fukumura -2015 J Hum Genet 60,509)609060
GFM2138.10.980.94Wolcott-Rallison syndrome (Dixon-Salazar -2012 Sci Transl Med 4,138ra78)609060
GFM2138.10.980.94{Atorvastatin sensitivity} (Callegari -2012 PLoS Genet 8,e1002755)
GLRX5102.20.930.86Anemia, sideroblastic, 3 pyridoxine-refractory,616860
GLRX5102.20.930.86Spasticity, childhood-onset, with hyperglycinemia,616859
GLUD182.40.940.86Hyperinsulinism-hyperammonemia syndrome,606762
GTPBP3135.80.990.98Combined oxidative phosphorylation deficiency 23616198
HARS2196.90.990.99?Perrault syndrome 2614926
HCCS123.610.98Linear skin defects with multiple congenital anomalies 1309801
HIBCH76.20.910.723-hydroxyisobutryl-CoA hydrolase deficiency,250620
HLCS193.111Holocarboxylase synthetase deficiency,253270
HSD17B10120.310.9817-beta-hydroxysteroid dehydrogenase X deficiency,300438
HSD17B10120.310.98?Mental retardation, X-linked syndromic 10300220
HSPD192.70.960.89Leukodystrophy, hypomyelinating, 4612233
HSPD192.70.960.89Spastic paraplegia 13 autosomal dominant,605280
IARS2147.510.99?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal605280
IARS2147.510.99dysplasia,616007
IBA57114.80.930.9?Multiple mitochondrial dysfunctions syndrome 3615330
IBA57114.80.930.9?Spastic paraplegia 74 autosomal recessive,616451
ISCA289.50.980.94Multiple mitochondrial dysfunctions syndrome 4616370
ISCU1410.990.99Myopathy with lactic acidosis, hereditary,255125
KARS141.210.99Deafness, autosomal recessive 89613916
KARS141.210.99?Charcot-Marie-Tooth disease, recessive intermediate, B,613641
LACTB140.70.960.85No OMIM phenotype613641
LARS2147.811Perrault syndrome 4615300
LARS2147.811?Hydrops, lactic acidosis, and sideroblastic anemia,617021
LIAS159.60.990.95Hyperglycinemia, lactic acidosis, and seizures,614462
LIPT1234.60.990.99Lipoyltransferase 1 deficiency,616299
LONP1168.10.970.95CODAS syndrome,600373
LRPPRC140.10.980.96Leigh syndrome, French-Canadian type,220111
LYRM4620.640.59?Combined oxidative phosphorylation deficiency 19615595
LYRM753.90.830.65Mitochondrial complex III deficiency, nuclear type 8615838
MARS2168.811Spastic ataxia 3 autosomal recessive,611390
MARS2168.811?Combined oxidative phosphorylation deficiency 25616430
MCUR163.10.770.67No OMIM phenotype616430
MFF107.20.920.88No OMIM phenotype616430
MFF107.20.920.88Mitochondrial ecephalomyopathy (Shamseldin -2012 J Med Genet 49,234)616430
MFF107.20.920.88Leigh-like encephalopathy, optic atrophy and peripheral neuropathy (Koch -2016 J Med Genet 53 270)616430
MFN2159.711Charcot-Marie-Tooth disease, type 2A2,609260
MFN2159.711Hereditary motor and sensory neuropathy VIA,601152
MGME1196.811Mitochondrial DNA depletion syndrome 11615084
MICU11400.950.91Myopathy with extrapyramidal signs,615673
MIEF2120.610.99No OMIM phenotype615673
MPC1131.610.99Mitochondrial pyruvate carrier deficiency,614741
MPV17119.710.99Mitochondrial DNA depletion syndrome 6 (hepatocerebral type),256810
MRP63142.10.990.97No OMIM phenotype256810
MRPL12125.90.990.95No OMIM phenotype256810
MRPL12125.90.990.95Growth retardation and neurological deterioration (Serre -2013 Biochim Biophys Acta 1832)256810
MRPL369.90.890.78Combined oxidative phosphorylation deficiency 9614582
MRPL401180.990.95No OMIM phenotype614582
MRPL44119.90.990.96?Combined oxidative phosphorylation deficiency 16615395
MRPS16154.410.99Combined oxidative phosphorylation deficiency 2610498
MRPS2179.610.99No OMIM phenotype610498
MRPS22150.80.950.91Combined oxidative phosphorylation deficiency 5611719
MRPS7185.811No OMIM phenotype611719
MRPS7185.811Sensorineural deafness,progressive hepatic and renal failure and lactic acidaemia (Menezes -2015 Hum611719
MRPS7185.811Mol Genet 24,2297)611719
MRRF216.410.98No OMIM phenotype611719
MRRF216.410.98?Complex I deficiency (Calvo -2010 Nat Genet 42,851)611719
MTFMT148.40.980.94Combined oxidative phosphorylation deficiency 15614947
MTO1179.80.890.87Combined oxidative phosphorylation deficiency 10614702
MTPAP1330.980.93Ataxia, spastic, 4613672
NARS2155.70.970.97Combined oxidative phosphorylation deficiency 24616239
NDUFA1236.810.99Mitochondrial complex I deficiency,252010
NDUFA10155.60.990.96?Leigh syndrome,256000
NDUFA1195.10.990.94Mitochondrial complex I deficiency,252010
NDUFA1216611Leigh syndrome due to mitochondrial complex 1 deficiency,256000
NDUFA13131.60.950.94{Thyroid carcinoma, Hurthle cell},607464
NDUFA2144.111Leigh syndrome due to mitochondrial complex I deficiency,256000
NDUFA3130.50.910.84No OMIM phenotype256000
NDUFA483.60.970.86No OMIM phenotype256000
NDUFA483.60.970.86Cytochrome c oxidase deficiency (Pitceathly -2013 Cell Rep 3,1795)256000
NDUFA483.60.970.86?Complex I deficiency (Calvo -2010 Nat Genet 42,851)256000
NDUFA583.20.870.66No OMIM phenotype256000
NDUFA6276.911No OMIM phenotype256000
NDUFA6276.911?Complex I deficiency (Calvo -2010 Nat Genet 42,851)256000
NDUFA7117.610.98No OMIM phenotype256000
NDUFA8151.610.99No OMIM phenotype256000
NDUFA8151.610.99Complex I deficiency (Bugiani -2004 Biochim Biophys Acta 1659,136)256000
NDUFA9156.50.990.95Leigh syndrome due to mitochondrial complex I deficiency,256000
NDUFAB1129.90.980.94No OMIM phenotype256000
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
NDUFAF689.60.970.93Leigh syndrome due to mitochondrial complex I deficiency,256000
NDUFAF7110.40.990.98No OMIM phenotype256000
NDUFAF7110.40.990.98?Complex I deficiency (Calvo -2010 Nat Genet 42,851)256000
NDUFB133.10.730.53No OMIM phenotype256000
NDUFB133.10.730.53?Complex I deficiency (Calvo -2012 Nat Genet 42,851)256000
NDUFB10146.40.990.97No OMIM phenotype256000
NDUFB11101.40.940.84Linear skin defects with multiple congenital anomalies 3300952
NDUFB2109.810.99No OMIM phenotype300952
NDUFB323.30.910.56Mitochondrial complex I deficiency,252010
NDUFB4107.30.830.79No OMIM phenotype252010
NDUFB5101.511No OMIM phenotype252010
NDUFB641.60.970.87No OMIM phenotype252010
NDUFB759.10.990.97No OMIM phenotype252010
NDUFB811911No OMIM phenotype252010
NDUFB9128.20.990.97?Mitochondrial complex I deficiency,252010
NDUFC1950.990.97No OMIM phenotype252010
NDUFC242.30.960.82No OMIM phenotype252010
NDUFC242.30.960.82{Insulin secrection,association with} (Olsson -2011 Eur J Endocrinol 164,765)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
NDUFS5184.511No OMIM phenotype252010
NDUFS5184.511?Complex I deficiency (Calvo -2010 Nat Genet 42,851)252010
NDUFS6138.10.990.99Mitochondrial complex I deficiency,252010
NDUFS7132.10.990.99Leigh syndrome,256000
NDUFS8145.60.990.99Leigh syndrome due to mitochondrial complex I deficiency,256000
NDUFV1168.60.990.97Mitochondrial complex I deficiency,252010
NDUFV274.10.840.62Mitochondrial complex I deficiency,252010
NDUFV311410.99No OMIM phenotype252010
NDUFV311410.99?Autistic features,motor problems and macrocephaly (Asadollahi -2014 J Med Genet 51,677)252010
NDUFV311410.99?Complex I deficiency (Calvo -2010 Nat Genet 42,851)252010
NFS182.10.870.83No OMIM phenotype252010
NFS182.10.870.83Mitochondrial complex II/III deficienc,infantile (Farhan -2014 Mol Genet Genomic Med 2,73)252010
NFU150.50.930.78Multiple mitochondrial dysfunctions syndrome 1605711
NUBPL101.70.90.85Mitochondrial complex I deficiency,252010
OGDH225.111Alpha-ketoglutarate dehydrogenase deficiency,203740
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
OPA31220.990.963-methylglutaconic aciduria, type III,258501
OPA31220.990.96Optic atrophy 3 with cataract,165300
OXA1L186.811No OMIM phenotype165300
PANK2177.50.990.96HARP syndrome,607236
PANK2177.50.990.96Neurodegeneration with brain iron accumulation 1234200
PARS2241.411No OMIM phenotype234200
PARS2241.411Alpers syndrome (Sofou -2015 Mol Genet Genomic Med 3,59)234200
PC162.80.990.97Pyruvate carboxylase deficiency,266150
PDHA1127.80.970.92Pyruvate dehydrogenase E1-alpha deficiency,312170
PDHB1440.980.95Pyruvate dehydrogenase E1-beta deficiency,614111
PDHX136.10.980.96Lacticacidemia due to PDX1 deficiency,245349
PDK1153.80.960.93No OMIM phenotype245349
PDK2183.511No OMIM phenotype245349
PDK3145.10.950.94?Charcot-Marie-Tooth disease, X-linked dominant, 6300905
PDK4124.10.990.97No OMIM phenotype300905
PDK4124.10.990.97?Autism spectrum disorder (Matsunami -2014 Mol Autism 5,5)300905
PDP1209.611Pyruvate dehydrogenase phosphatase deficiency,608782
PDSS1134.80.910.85Coenzyme Q10 deficiency, primary, 2614651
PDSS2131.30.970.93Coenzyme Q10 deficiency, primary, 3614652
PET100127.60.950.82Mitochondrial complex IV deficiency,220110
PET112110.90.990.98No OMIM phenotype220110
PIGA102.10.920.84Multiple congenital anomalies-hypotonia-seizures syndrome 2300868
PIGA102.10.920.84Paroxysmal nocturnal hemoglobinuria, somatic,300818
PITRM1133.20.970.95Brunetti et al, EMBO Mol Med 2015300818
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
PMPCA146.20.980.95Spinocerebellar ataxia, autosomal recessive 2213200
PNPT157.70.920.79Combined oxidative phosphorylation deficiency 13614932
PNPT157.70.920.79Deafness, autosomal recessive 70614934
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
POLG2179.60.980.95Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4610131
PPA286.90.940.86No OMIM phenotype610131
PTRH2315.811Infantile-onset multisystem neurologic, endocrine, and pancreatic disease,616263
PUS1150.80.990.96Myopathy, lactic acidosis, and sideroblastic anemia 1600462
PYCR1105.40.990.94Cutis laxa, autosomal recessive, type IIB,612940
PYCR1105.40.990.94Cutis laxa, autosomal recessive, type IIIB,614438
PYCR2137.60.990.98Leukodystrophy, hypomyelinating, 10616420
RARS2126.30.990.98Pontocerebellar hypoplasia, type 6611523
RMND1142.90.990.96Combined oxidative phosphorylation deficiency 11614922
RNASEH1111.10.970.93Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479
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
SARS2116.30.960.95Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis,613845
SCO1130.60.970.93Mitochondrial complex IV deficiency,220110
SCO2113.310.99Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1604377
SCO2113.310.99Myopia 6608908
SDHA117.40.840.78Cardiomyopathy, dilated, 1GG,613642
SDHA117.40.840.78Leigh syndrome,256000
SDHA117.40.840.78Mitochondrial respiratory chain complex II deficiency,252011
SDHA117.40.840.78Paragangliomas 5614165
SDHAF148.80.990.98Mitochondrial complex II deficiency,252011
SDHB1440.990.99Cowden syndrome 2612359
SDHB1440.990.99Gastrointestinal stromal tumor,606764
SDHB1440.990.99Paraganglioma and gastric stromal sarcoma,606864
SDHB1440.990.99Paragangliomas 4115310
SDHB1440.990.99Pheochromocytoma,171300
SDHD59.90.620.58Carcinoid tumors, intestinal,114900
SDHD59.90.620.58Cowden syndrome 3615106
SDHD59.90.620.58Merkel cell carcinoma, somatic615106
SDHD59.90.620.58Mitochondrial complex II deficiency,252011
SDHD59.90.620.58Paraganglioma and gastric stromal sarcoma,606864
SDHD59.90.620.58Paragangliomas 1 with or without deafness,168000
SDHD59.90.620.58Pheochromocytoma,171300
SERAC1125.50.980.943-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome,614739
SFXN4155.30.990.98Combined oxidative phosphorylation deficiency 18615578
SLC19A2128.50.990.98Thiamine-responsive megaloblastic anemia syndrome,249270
SLC19A3191.311Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),249270
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
SLC25A121650.990.98Epileptic encephalopathy, early infantile, 39612949
SLC25A13125.30.980.93Citrullinemia, adult-onset type II,603471
SLC25A13125.30.980.93Citrullinemia, type II, neonatal-onset,605814
SLC25A1981.40.990.95Microcephaly, Amish type,607196
SLC25A1981.40.990.95Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type),613710
SLC25A22117.10.990.96Epileptic encephalopathy, early infantile, 3609304
SLC25A3157.90.990.95Mitochondrial phosphate carrier deficiency,610773
SLC25A32132.110.99?Exercise intolerance, riboflavin-responsive,616839
SLC25A4152.111Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type),615418
SLC25A4152.111Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2609283
SLC25A46191.10.930.87Neuropathy, hereditary motor and sensory, type VIB,616505
SPATA5146.60.990.99Epilepsy, hearing loss, and mental retardation syndrome,616577
SPG20166.40.990.97Troyer syndrome,275900
SPG7127.90.960.92Spastic paraplegia 7 autosomal recessive,607259
STXBP1147.911Epileptic encephalopathy, early infantile, 4612164
SUCLA269.40.920.82Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria),612164
SUCLA269.40.920.82Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria),612073
SUCLG1111.30.990.97Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),612073
SUCLG1111.30.990.97Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400
SUCLG265.90.910.79No OMIM phenotype245400
SURF1970.890.88Charcot-Marie-Tooth disease, type 4K,616684
SURF1970.890.88Leigh syndrome, due to COX IV deficiency,256000
TACO1104.30.960.92Mitochondrial complex IV deficiency,220110
TANGO216110.99Metabolic encephalomyopathic crises,recurrent,with rhabdomyolysis,cardiac arrhythmias and220110
TANGO216110.99neurodegeneration,616878
TARS2103.60.990.96?Combined oxidative phosphorylation deficiency 21615918
TAZ126.310.98Barth syndrome,302060
THG1L158.210.99No OMIM phenotype302060
TIMM44136.30.990.97No OMIM phenotype302060
TIMM44136.30.990.97Oncocytic thyroid carcinoma (Bonora -2006 Br J Cancer 95,1529)302060
TIMM50115.10.990.97No OMIM phenotype302060
TIMM50115.10.990.97?Epileptic encephalopathy with Lennox-Gastaut syndrome (Helbig -2016 Genet Med Epub,epub)302060
TIMM8A45.50.870.7Jensen syndrome,311150
TIMM8A45.50.870.7Mohr-Tranebjaerg syndrome,304700
TIMMDC1167.111No OMIM phenotype304700
TK2109.90.920.87Mitochondrial DNA depletion syndrome 2 (myopathic type),609560
TMEM126A118.90.950.83Optic atrophy 7612989
TMEM126B100.80.990.97Mitochondrial complex I deficiency,252010
TMEM70152.60.950.91Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2614052
TPK1127.30.990.97Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type),614458
TRIT1149.210.99No OMIM phenotype614458
TRMT10C123.50.990.96Combined oxidative phosphorylation deficiency 30616974
TRMT5232.10.980.93Combined oxidative phosphorylation deficiency 26616539
TRMU121.110.99Liver failure, transient infantile,613070
TRMU121.110.99{Deafness, mitochondrial, modifier of},580000
TRNT1111.20.950.9Retinitis pigmentosa and erythrocytic microcytosis,616959
TRNT1111.20.950.9Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay,616084
TSFM148.410.99Combined oxidative phosphorylation deficiency 3610505
TTC19106.20.90.81Mitochondrial complex III deficiency, nuclear type 2615157
TUFM146.110.99Combined oxidative phosphorylation deficiency 4610678
TXN2100.511?Combined oxidative phosphorylation deficiency 29616811
TYMP96.70.960.88Mitochondrial DNA depletion syndrome 1 (MNGIE type),603041
UQCC1114.210.99No OMIM phenotype603041
UQCC2103.810.99?Mitochondrial complex III deficiency, nuclear type 7615824
UQCR10186.811No OMIM phenotype615824
UQCR11199.911No OMIM phenotype615824
UQCRB121.70.980.95Mitochondrial complex III deficiency, nuclear type 3615158
UQCRC1143.60.990.99No OMIM phenotype615158
UQCRC2154.80.990.99Mitochondrial complex III deficiency, nuclear type 5615160
UQCRFS1148.50.880.83No OMIM phenotype615160
UQCRH1300.990.98No OMIM phenotype615160
UQCRQ162.510.99Mitochondrial complex III deficiency, nuclear type 4615159
VARS217.70.620.35Combined oxidative phosphorylation deficiency 20615917
YARS2186.80.990.98Myopathy, lactic acidosis, and sideroblastic anemia 2613561

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