qGenEx MI. Panel Miopatías

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

qGenEx MI analiza 146 genes asociados a diferentes miopatías 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 
ACADVL128.30.990.97VLCAD deficiency,201475
ACTA11140.990.98Myopathy, actin, congenital, with cores,161800
ACTA11140.990.98Myopathy, actin, congenital, with excess of thin myofilaments,161800
ACTA11140.990.98Myopathy, congenital, with fiber-type disproportion 1255310
ACTA11140.990.98Nemaline myopathy 3 autosomal dominant or recessive,161800
ACTA11140.990.98?Myopathy, scapulohumeroperoneal,616852
ACVR1180.110.99Fibrodysplasia ossificans progressiva,135100
AGL164.60.990.97Glycogen storage disease IIIa,232400
AGL164.60.990.97Glycogen storage disease IIIb,232400
AGRN124.30.960.91Myasthenic syndrome, congenital, 8 with pre- and postsynaptic defects,615120
ANO5162.30.980.95Gnathodiaphyseal dysplasia,166260
ANO5162.30.980.95Miyoshi muscular dystrophy 3613319
ANO5162.30.980.95Muscular dystrophy, limb-girdle, type 2L,611307
ATP2A1176.210.99Brody myopathy,601003
ATP7A157.30.990.97Menkes disease,309400
ATP7A157.30.990.97Occipital horn syndrome,304150
ATP7A157.30.990.97Spinal muscular atrophy, distal, X-linked 3300489
B3GALNT2134.90.920.9Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11615181
B3GNT112611Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13615287
BAG3131.210.99Cardiomyopathy, dilated, 1HH,613881
BAG3131.210.99Myopathy, myofibrillar, 6612954
BICD2162.110.99Spinal muscular atrophy, lower extremity-predominant, 2 AD,615290
BIN1119.40.990.96Myopathy, centronuclear, autosomal recessive,255200
CACNA1S15510.99Hypokalemic periodic paralysis, type 1170400
CACNA1S15510.99{Malignant hyperthermia susceptibility 5},601887
CACNA1S15510.99{Thyrotoxic periodic paralysis, susceptibility to, 1},188580
CAPN3132.60.990.97Muscular dystrophy, limb-girdle, type 2A,253600
CASQ1135.110.99Myopathy, vacuolar, with CASQ1 aggregates,616231
CAV3297.811Cardiomyopathy, familial hypertrophic,192600
CAV3297.811Creatine phosphokinase, elevated serum,123320
CAV3297.811Long QT syndrome 9611818
CAV3297.811Muscular dystrophy, limb-girdle, type IC,607801
CAV3297.811Myopathy, distal, Tateyama type,614321
CAV3297.811Rippling muscle disease,606072
CCDC78118.410.99Myopathy, centronuclear, 4614807
CFL2135.70.930.85Nemaline myopathy 7 autosomal recessive,610687
CHAT145.10.920.86Myasthenic syndrome, congenital, 6 presynaptic,254210
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
CHRNA1134.410.99Multiple pterygium syndrome, lethal type,253290
CHRNA1134.410.99Myasthenic syndrome, congenital, 1A, slow-channel,601462
CHRNA1134.410.99Myasthenic syndrome, congenital, 1B, fast-channel,608930
CHRNB1159.10.980.96Myasthenic syndrome, congenital, 2A, slow-channel,616313
CHRNB1159.10.980.96?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency,616314
CHRND177.50.990.99Multiple pterygium syndrome, lethal type,253290
CHRND177.50.990.99Myasthenic syndrome, congenital, 3B, fast-channel,616322
CHRND177.50.990.99?Myasthenic syndrome, congenital, 3A, slow-channel,616321
CHRND177.50.990.99?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency,616323
CHRNE146.40.990.96Myasthenic syndrome, congenital, 4A, slow-channel,605809
CHRNE146.40.990.96Myasthenic syndrome, congenital, 4B, fast-channel,616324
CHRNE146.40.990.96Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency,608931
CLCN1161.20.990.99Myotonia congenita, dominant,160800
CLCN1161.20.990.99Myotonia congenita, recessive,255700
CLCN1161.20.990.99Myotonia levior, recessive255700
CNTN1184.90.990.98?Myopathy, congenital, Compton-North,612540
COL12A1154.40.990.97Bethlem myopathy 2616471
COL12A1154.40.990.97?Ullrich congenital muscular dystrophy 2616470
COL13A192.40.990.94Myasthenic syndrome, congenital, 19616720
COL6A1152.60.990.98Bethlem myopathy 1158810
COL6A1152.60.990.98Ullrich congenital muscular dystrophy 1254090
COL6A2166.90.990.99Bethlem myopathy 1158810
COL6A2166.90.990.99Ullrich congenital muscular dystrophy 1254090
COL6A2166.90.990.99?Myosclerosis, congenital,255600
COL6A3190.510.99Bethlem myopathy 1158810
COL6A3190.510.99Dystonia 27616411
COL6A3190.510.99Ullrich congenital muscular dystrophy 1254090
COLQ125.70.990.98Myasthenic syndrome, congenital, 5603034
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
CRYAB131.20.990.97Cardiomyopathy, dilated, 1II,615184
CRYAB131.20.990.97Cataract 16 multiple types,613763
CRYAB131.20.990.97Myopathy, myofibrillar, 2608810
CRYAB131.20.990.97Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related,613869
DAG1221.211Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9616538
DAG1221.211Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9613818
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
DMD147.30.990.97Becker muscular dystrophy,300376
DMD147.30.990.97Cardiomyopathy, dilated, 3B,302045
DMD147.30.990.97Duchenne muscular dystrophy,310200
DNA2149.30.990.97Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156
DNA2149.30.990.97?Seckel syndrome 8615807
DNAJB666.20.90.76Muscular dystrophy, limb-girdle, type 1E,603511
DNM2143.20.980.96Charcot-Marie-Tooth disease, axonal, type 2M,606482
DNM2143.20.980.96Charcot-Marie-Tooth disease, dominant intermediate B,606482
DNM2143.20.980.96Lethal congenital contracture syndrome 5615368
DNM2143.20.980.96Myopathy, centronuclear,160150
DOK788.30.950.91Myasthenic syndrome, congenital, 10254300
DOK788.30.950.91?Fetal akinesia deformation sequence,208150
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
DPM3165.111Congenital disorder of glycosylation, type Io,612937
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
DYSF146.810.99Miyoshi muscular dystrophy 1254130
DYSF146.810.99Muscular dystrophy, limb-girdle, type 2B,253601
DYSF146.810.99Myopathy, distal, with anterior tibial onset,606768
ECEL1102.70.910.83Arthrogryposis, distal, type 5D,615065
EMD113.70.990.96Emery-Dreifuss muscular dystrophy 1 X-linked,310300
ENO320210.99?Glycogen storage disease XIII,612932
ERBB3146.50.990.99Lethal congenital contractural syndrome 2607598
EXOSC893.20.910.79Pontocerebellar hypoplasia, type 1C,616081
FAM111B165.311Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis,616081
FAM111B165.311Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis,615704
FHL1101.90.980.9Emery-Dreifuss muscular dystrophy 6 X-linked,300696
FHL1101.90.980.9Hemophagocytic lymphohistiocytosis, familial, 1300696
FHL1101.90.980.9Myopathy, X-linked, with postural muscle atrophy,300696
FHL1101.90.980.9Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset,300717
FHL1101.90.980.9Reducing body myopathy, X-linked 1b, with late childhood or adult onset,300718
FHL1101.90.980.9Scapuloperoneal myopathy, X-linked dominant,300695
FKBP1481.30.990.98Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss,614557
FKRP930.990.98Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5613153
FKRP930.990.98Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5613153
FKRP930.990.98Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5606612
FKRP930.990.98Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5607155
FKTN157.40.980.93Cardiomyopathy, dilated, 1X,611615
FKTN157.40.980.93Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4253800
FKTN157.40.980.93Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4613152
FKTN157.40.980.93Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4611588
FLNC179.210.99Cardiomyopathy, familial hypertrophic, 26611588
FLNC179.210.99Cardiomyopathy, familial restrictive 5617047
FLNC179.210.99Myopathy, distal, 4614065
FLNC179.210.99Myopathy, myofibrillar, 5609524
GAA126.110.99Glycogen storage disease II,232300
GBE1171.80.990.97Glycogen storage disease IV,232500
GBE1171.80.990.97Polyglucosan body disease, adult form,263570
GFPT1160.10.990.97Myasthenia, congenital, 12 with tubular aggregates,610542
GNE176.50.990.99Nonaka myopathy,605820
GNE176.50.990.99Sialuria,269921
GYG1145.70.990.98Polyglucosan body myopathy 2616199
GYG1145.70.990.98?Glycogen storage disease XV,613507
GYS1122.60.990.98Glycogen storage disease 0 muscle,611556
HSPG21320.990.97Dyssegmental dysplasia, Silverman-Handmaker type,224410
HSPG21320.990.97Schwartz-Jampel syndrome, type 1255800
IGHMBP2113.20.990.94Charcot-Marie-Tooth disease, axonal, type 2S,616155
IGHMBP2113.20.990.94Neuronopathy, distal hereditary motor, type VI,604320
ISCU1410.990.99Myopathy with lactic acidosis, hereditary,255125
ISPD1200.950.85Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7614643
ISPD1200.950.85Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7616052
ITGA7140.50.990.96Muscular dystrophy, congenital, due to ITGA7 deficiency,613204
KBTBD13105.40.990.95Nemaline myopathy 6 autosomal dominant,609273
KCNJ2227.711Andersen syndrome,170390
KCNJ2227.711Atrial fibrillation, familial, 9613980
KCNJ2227.711Short QT syndrome 3609622
KLHL40148.811Nemaline myopathy 8 autosomal recessive,615348
KLHL41215.610.99Nemaline myopathy 9615731
KLHL9299.611No OMIM phenotype615731
LAMA2164.80.990.99Muscular dystrophy, congenital merosin-deficient,607855
LAMA2164.80.990.99Muscular dystrophy, congenital, due to partial LAMA2 deficiency,607855
LAMP2134.30.920.91Danon disease,300257
LARGE145.90.990.98Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6613154
LARGE145.90.990.98Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6608840
LDB3134.40.950.92Cardiomyopathy, dilated, 1C, with or without LVNC,601493
LDB3134.40.950.92Cardiomyopathy, hypertrophic, 24601493
LDB3134.40.950.92Left ventricular noncompaction 3601493
LDB3134.40.950.92Myopathy, myofibrillar, 4609452
LDHA60.10.920.86Glycogen storage disease XI,612933
LMNA90.40.960.89Cardiomyopathy, dilated, 1A,115200
LMNA90.40.960.89Charcot-Marie-Tooth disease, type 2B1,605588
LMNA90.40.960.89Emery-Dreifuss muscular dystrophy 2 AD,181350
LMNA90.40.960.89Emery-Dreifuss muscular dystrophy 3 AR,616516
LMNA90.40.960.89Heart-hand syndrome, Slovenian type,610140
LMNA90.40.960.89Hutchinson-Gilford progeria,176670
LMNA90.40.960.89Lipodystrophy, familial partial, 2151660
LMNA90.40.960.89Malouf syndrome,212112
LMNA90.40.960.89Mandibuloacral dysplasia,248370
LMNA90.40.960.89Muscular dystrophy, congenital,613205
LMNA90.40.960.89Muscular dystrophy, limb-girdle, type 1B,159001
LMNA90.40.960.89Restrictive dermopathy, lethal,275210
LMOD3168.50.990.99Nemaline myopathy 10616165
LPIN1144.70.990.94Myoglobinuria, acute recurrent, autosomal recessive,268200
MATR3940.960.89Amyotrophic lateral sclerosis 21606070
MEGF10169.810.99Myopathy, areflexia, respiratory distress, and dysphagia, early-onset,614399
MEGF10169.810.99Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant,614399
MICU11400.950.91Myopathy with extrapyramidal signs,615673
MSTN200.510.99Muscle hypertrophy,614160
MTM1115.40.970.89Myotubular myopathy, X-linked,310400
MUSK183.410.99Fetal akinesia deformation sequence,208150
MUSK183.410.99Myasthenic syndrome, congenital, 9 associated with acetylcholine receptor deficiency,616325
MYF6115.511Myopathy, centronuclear, 3614408
MYH2144.50.990.98Proximal myopathy and ophthalmoplegia,605637
MYH3127.40.990.98Arthrogryposis, distal, type 2A,193700
MYH3127.40.990.98Arthrogryposis, distal, type 2B,601680
MYH3127.40.990.98Arthrogryposis, distal, type 8178110
MYH7128.20.990.96Cardiomyopathy, dilated, 1S,613426
MYH7128.20.990.96Cardiomyopathy, hypertrophic, 1192600
MYH7128.20.990.96Left ventricular noncompaction 5613426
MYH7128.20.990.96Liang distal myopathy,160500
MYH7128.20.990.96Myopathy, myosin storage, autosomal dominant,608358
MYH7128.20.990.96Myopathy, myosin storage, autosomal recessive,255160
MYH7128.20.990.96Scapuloperoneal syndrome, myopathic type,181430
MYOT159.80.990.97Muscular dystrophy, limb-girdle, type 1A,159000
MYOT159.80.990.97Myopathy, myofibrillar, 3609200
MYOT159.80.990.97Myopathy, spheroid body,182920
NEB145.40.830.81Nemaline myopathy 2 autosomal recessive,256030
ORAI1223.90.930.91Immunodeficiency 9612782
ORAI1223.90.930.91Myopathy, tubular aggregate, 2615883
PABPN188.50.650.61Oculopharyngeal muscular dystrophy,164300
PFKM175.310.99Glycogen storage disease VII,232800
PGAM2168.711Glycogen storage disease X,261670
PGK1600.920.81Phosphoglycerate kinase 1 deficiency,300653
PGM1143.10.990.99Congenital disorder of glycosylation, type It,614921
PHKA1132.80.980.96Muscle glycogenosis,300559
PIP5K1C122.30.960.94Lethal congenital contractural syndrome 3611369
PLEC114.20.990.98Epidermolysis bullosa simplex with muscular dystrophy,226670
PLEC114.20.990.98Epidermolysis bullosa simplex with pyloric atresia,612138
PLEC114.20.990.98Epidermolysis bullosa simplex, Ogna type,131950
PLEC114.20.990.98Muscular dystrophy, limb-girdle, type 2Q,613723
PLEC114.20.990.98?Epidermolysis bullosa simplex with nail dystrophy,616487
PNPLA2127.60.990.97Neutral lipid storage disease with myopathy,610717
POMGNT1131.90.990.97Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3253280
POMGNT1131.90.990.97Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3613151
POMGNT1131.90.990.97Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3613157
POMGNT2281.811Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8614830
POMK225.311Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12615249
POMK225.311?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12616094
POMT11810.990.97Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1236670
POMT11810.990.97Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1613155
POMT11810.990.97Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1609308
POMT2120.50.980.96Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2613150
POMT2120.50.980.96Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2613156
POMT2120.50.980.96Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2613158
PRPS1201.511Arts syndrome,301835
PRPS1201.511Charcot-Marie-Tooth disease, X-linked recessive, 5311070
PRPS1201.511Deafness, X-linked 1304500
PRPS1201.511Gout, PRPS-related,300661
PRPS1201.511Phosphoribosylpyrophosphate synthetase superactivity,300661
PTRF142.90.990.98Lipodystrophy, congenital generalized, type 4613327
PYGM160.110.99McArdle disease,232600
RAPSN142.90.980.94Fetal akinesia deformation sequence,208150
RAPSN142.90.980.94Myasthenic syndrome, congenital, 11 associated with acetylcholine receptor deficiency,616326
RBCK1110.10.970.93Polyglucosan body myopathy 1 with or without immunodeficiency,615895
RYR1130.80.970.94Central core disease,117000
RYR1130.80.970.94King-Denborough syndrome,145600
RYR1130.80.970.94Minicore myopathy with external ophthalmoplegia,255320
RYR1130.80.970.94Neuromuscular disease, congenital, with uniform type 1 fiber,117000
RYR1130.80.970.94{Malignant hyperthermia susceptibility 1},145600
SCN4A246.90.990.99Hyperkalemic periodic paralysis, type 2170500
SCN4A246.90.990.99Hypokalemic periodic paralysis, type 2613345
SCN4A246.90.990.99Myasthenic syndrome, congenital, 16614198
SCN4A246.90.990.99Myotonia congenita, atypical, acetazolamide-responsive,608390
SCN4A246.90.990.99Paramyotonia congenita,168300
SEPN1120.90.860.83Muscular dystrophy, rigid spine, 1602771
SEPN1120.90.860.83Myopathy, congenital, with fiber-type disproportion,255310
SGCA158.90.990.99Muscular dystrophy, limb-girdle, type 2D,608099
SGCB180.50.970.96Muscular dystrophy, limb-girdle, type 2E,604286
SGCD104.410.98Cardiomyopathy, dilated, 1L,606685
SGCD104.410.98Muscular dystrophy, limb-girdle, type 2F,601287
SGCG142.911Muscular dystrophy, limb-girdle, type 2C,253700
SLC18A2141.410.99No OMIM phenotype253700
SLC18A2141.410.99Parkinsonian disorder, infantile hypotonic (Jacobsen -2016 J Inherit Metab Dis 39,305)253700
SLC18A2141.410.99?Intellectual disability, microcephaly, cortical atrophy and dementia (Karaca -2015 Neuron 88 499)253700
SLC18A2141.410.99?Schizophrenia (Gulsuner -2013 Cell 154 518)253700
SLC52A2196.411Brown-Vialetto-Van Laere syndrome 2614707
SLC52A3124.510.99Brown-Vialetto-Van Laere syndrome 1211530
SLC52A3124.510.99Fazio-Londe disease,211500
SMCHD1106.60.960.9Fascioscapulohumeral muscular dystrophy 2 digenic,158901
SPEG101.70.950.88Centronuclear myopathy 5615959
STIM1143.10.990.96Immunodeficiency 10612783
STIM1143.10.990.96Myopathy, tubular aggregate, 1160565
STIM1143.10.990.96Stormorken syndrome,185070
TCAP89.211Cardiomyopathy, hypertrophic, 25607487
TCAP89.211Muscular dystrophy, limb-girdle, type 2G,601954
TMEM51400.930.9Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10615041
TNNI2134.10.990.99Arthrogryposis multiplex congenita, distal, type 2B,601680
TNNT1105.30.970.93Nemaline myopathy 5 Amish type,605355
TNPO315810.99Muscular dystrophy, limb-girdle, type 1F,608423
TPM2127.710.99Arthrogryposis multiplex congenita, distal, type 1108120
TPM2127.710.99Arthrogryposis, distal, type 2B,601680
TPM2127.710.99CAP myopathy 2609285
TPM2127.710.99Nemaline myopathy 4 autosomal dominant,609285
TPM399.30.890.88CAP myopathy 1609284
TPM399.30.890.88Myopathy, congenital, with fiber-type disproportion,255310
TPM399.30.890.88Nemaline myopathy 1 autosomal dominant or recessive,609284
TRAPPC11140.70.980.95Muscular dystrophy, limb-girdle, type 2S,615356
TRIM32152.911Muscular dystrophy, limb-girdle, type 2H,254110
TRIM32152.911?Bardet-Biedl syndrome 11615988
TRPV4199.20.990.98Brachyolmia type 3113500
TRPV4199.20.990.98Digital arthropathy-brachydactyly, familial,606835
TRPV4199.20.990.98Hereditary motor and sensory neuropathy, type IIc,606071
TRPV4199.20.990.98Metatropic dysplasia,156530
TRPV4199.20.990.98Parastremmatic dwarfism,168400
TRPV4199.20.990.98Scapuloperoneal spinal muscular atrophy,181405
TRPV4199.20.990.98SED, Maroteaux type,184095
TRPV4199.20.990.98Spinal muscular atrophy, distal, congenital nonprogressive,600175
TRPV4199.20.990.98Spondylometaphyseal dysplasia, Kozlowski type,184252
TRPV4199.20.990.98[Sodium serum level QTL 1],613508
TTC19106.20.90.81Mitochondrial complex III deficiency, nuclear type 2615157
TTN2190.980.97Cardiomyopathy, dilated, 1G,604145
TTN2190.980.97Cardiomyopathy, familial hypertrophic, 9613765
TTN2190.980.97Muscular dystrophy, limb-girdle, type 2J,608807
TTN2190.980.97Myopathy, early-onset, with fatal cardiomyopathy,611705
TTN2190.980.97Myopathy, proximal, with early respiratory muscle involvement,603689
TTN2190.980.97Tibial muscular dystrophy, tardive,600334
UBA1177.60.990.98Spinal muscular atrophy, X-linked 2 infantile,301830
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
VIPAS39163.310.99Arthrogryposis, renal dysfunction, and cholestasis 2613404
VMA2147.20.930.82Myopathy, X-linked, with excessive autophagy,310440
VRK11470.980.95Pontocerebellar hypoplasia type 1A,607596

Un análisis para cada médico especialista… y para todos.

Descarga el consentimiento informado AQUÍ

Accede a la plataforma de pedidos Pedido sin plataforma
¿Cómo solicitar un test?
1) Preparar la hoja de solicitud del test

Cumplimentar toda la información disponible, especialmente fecha de nacimiento y sexo. Puede ser desde la plataforma (intranet) de pedidos, o bien mediante el documento en PDF.

2) Imprimir la hoja de solicitud.

Una vez debidamente cumplimentada, imprimir y firmar.

3) Recoger la muestra correspondiente.

Destacar la importancia de identificar correctamente la muestra con el nombre o identificador indicado en la solicitud.

4) Preparar adecuadamente para el envío.

Proteger la muestra biológica y adjuntar la hoja de solicitud y el consentimiento informado.

5) Solicitar la recogida de la muestra al 932 301 270
Requisitos de las muestras biológicas
  • Sangre EDTA: 1 tubo de 3-5mL (niños 1mL mínimo).
  • Alternativamente se puede solicitar kit de recogida de saliva o células bucales.
  • Sangre en papel: un mínimo de 10 spots en tarjeta Guthrie o papel de filtro.
Preparación para el envío
Llámenos al 932 301 270 cuando tenga todo preparado y pasaremos a recoger sus muestras.

Las muestras de sangre en EDTA, ADN purificado, saliva y sangre en papel son estables a temperatura ambiente durante 3 o 4 días. Las muestras pueden mandarse, convenientemente protegidas, por correo ordinario o mensajería.