qGenEx® NE. Panell de gens causants de Neuropaties

Els panells qGenEx® consisteixen en anàlisis d’exoma dirigides, que permeten restringir l’estudi a un grup de gens concret segons l’especialitat o sospita clínica concreta, al mateix temps que generen dades de la totalitat de l’exoma, per si en primera instància no s’identifica el gen responsable, ja tinguem les dades apunt per a noves anàlisis presents o futures.

El servei qGenEx® NE analitza 69 gens associats a diferents tipus de neuropaties, fent servir la informació de l’exoma complet, obtingut per NGS .

Fes servir el buscador per trobar el gen o grup de gens relacionats amb la patologia que t’interessa i que formen part del panell:
GeneMedian coverage% covered > 10x% covered > 20xAssociated Phenotype description and OMIM disease ID 
AARS144.70.990.99Charcot-Marie-Tooth disease, axonal, type 2N,613287
AARS144.70.990.99Epileptic encephalopathy, early infantile, 29616339
ABHD12114.90.970.91Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract,612674
AIFM1133.510.99Combined oxidative phosphorylation deficiency 6300816
AIFM1133.510.99Cowchock syndrome,310490
AIFM1133.510.99Deafness, X-linked 5300614
ATL1195.90.980.95Neuropathy, hereditary sensory, type ID,613708
ATL1195.90.980.95Spastic paraplegia 3A, autosomal dominant,182600
ATP7A157.30.990.97Menkes disease,309400
ATP7A157.30.990.97Occipital horn syndrome,304150
ATP7A157.30.990.97Spinal muscular atrophy, distal, X-linked 3300489
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
COX6A1205.910.99Charcot-Marie-Tooth disease, recessive intermediate D,616039
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
DHTKD1162.90.990.972-aminoadipic 2-oxoadipic aciduria,204750
DHTKD1162.90.990.97?Charcot-Marie-Tooth disease, axonal, type 2Q,615025
DNAJB2121.711Spinal muscular atrophy, distal, autosomal recessive, 5614881
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
DNMT11290.990.98Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,604121
DNMT11290.990.98Neuropathy, hereditary sensory, type IE,614116
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
EGR2140.310.99Charcot-Marie-Tooth disease, type 1D,607678
EGR2140.310.99Dejerine-Sottas disease,145900
EGR2140.310.99Neuropathy, congenital hypomyelinating, 1605253
EXOSC893.20.910.79Pontocerebellar hypoplasia, type 1C,616081
FAM134B123.80.950.88Neuropathy, hereditary sensory and autonomic, type IIB,613115
FGD4119.40.970.95Charcot-Marie-Tooth disease, type 4H,609311
FIG4187.10.990.98Amyotrophic lateral sclerosis 11612577
FIG4187.10.990.98Charcot-Marie-Tooth disease, type 4J,611228
FIG4187.10.990.98Yunis-Varon syndrome,216340
FIG4187.10.990.98?Polymicrogyria, bilateral temporooccipital,612691
GAN210.80.990.99Giant axonal neuropathy-1,256850
GARS147.80.990.97Charcot-Marie-Tooth disease, type 2D,601472
GARS147.80.990.97Neuropathy, distal hereditary motor, type VA,600794
GDAP1195.10.990.97Charcot-Marie-Tooth disease, axonal, type 2K,607831
GDAP1195.10.990.97Charcot-Marie-Tooth disease, axonal, with vocal cord paresis,607706
GDAP1195.10.990.97Charcot-Marie-Tooth disease, recessive intermediate, A,608340
GDAP1195.10.990.97Charcot-Marie-Tooth disease, type 4A,214400
GJB1237.610.99Charcot-Marie-Tooth neuropathy, X-linked dominant, 1302800
GNB4165.410.99Charcot-Marie-Tooth disease, dominant intermediate F,615185
HINT158.10.980.88Neuromyotonia and axonal neuropathy, autosomal recessive,137200
HSPB140.90.950.82Charcot-Marie-Tooth disease, axonal, type 2F,606595
HSPB140.90.950.82Neuropathy, distal hereditary motor, type IIB,608634
HSPB3329.811?Neuronopathy, distal hereditary motor, type IIC,613376
HSPB815911Charcot-Marie-Tooth disease, axonal, type 2L,608673
HSPB815911Neuropathy, distal hereditary motor, type IIA,158590
IGHMBP2113.20.990.94Charcot-Marie-Tooth disease, axonal, type 2S,616155
IGHMBP2113.20.990.94Neuronopathy, distal hereditary motor, type VI,604320
IKBKAP159.40.990.98Dysautonomia, familial,223900
INF297.90.930.9Charcot-Marie-Tooth disease, dominant intermediate E,614455
INF297.90.930.9Glomerulosclerosis, focal segmental, 5613237
KARS141.210.99Deafness, autosomal recessive 89613916
KARS141.210.99?Charcot-Marie-Tooth disease, recessive intermediate, B,613641
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
KIF1B1770.990.99?Charcot-Marie-Tooth disease, type 2A1,118210
KIF1B1770.990.99{Neuroblastoma, susceptibility to, 1},256700
KIF5A147.510.99Spastic paraplegia 10 autosomal dominant,604187
LITAF127.70.970.92Charcot-Marie-Tooth disease, type 1C,601098
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
LRSAM1148.710.99Charcot-Marie-Toothe disease, axonal, type 2P,614436
MED25114.40.980.93Basel-Vanagait-Smirin-Yosef syndrome,616449
MED25114.40.980.93?Charcot-Marie-Tooth disease, type 2B2,605589
MFN2159.711Charcot-Marie-Tooth disease, type 2A2,609260
MFN2159.711Hereditary motor and sensory neuropathy VIA,601152
MPZ1160.990.98Charcot-Marie-Tooth disease, dominant intermediate D,607791
MPZ1160.990.98Charcot-Marie-Tooth disease, type 1B,118200
MPZ1160.990.98Charcot-Marie-Tooth disease, type 2I,607677
MPZ1160.990.98Charcot-Marie-Tooth disease, type 2J,607736
MPZ1160.990.98Dejerine-Sottas disease,145900
MPZ1160.990.98Neuropathy, congenital hypomyelinating,605253
MPZ1160.990.98Roussy-Levy syndrome,180800
MTMR2130.10.990.98Charcot-Marie-Tooth disease, type 4B1,601382
NDRG1150.810.99Charcot-Marie-Tooth disease, type 4D,601455
NEFL1600.990.97Charcot-Marie-Tooth disease, type 1F,607734
NEFL1600.990.97Charcot-Marie-Tooth disease, type 2E,607684
NGF286.711Neuropathy, hereditary sensory and autonomic, type V,608654
NTRK1142.60.990.97Insensitivity to pain, congenital, with anhidrosis,256800
NTRK1142.60.990.97Medullary thyroid carcinoma, familial,155240
PLEKHG598.60.960.91Charcot-Marie-Tooth disease, recessive intermediate C,615376
PLEKHG598.60.960.91Spinal muscular atrophy, distal, autosomal recessive, 4611067
PMP22120.60.940.89Charcot-Marie-Tooth disease, type 1A,118220
PMP22120.60.940.89Charcot-Marie-Tooth disease, type 1E,118300
PMP22120.60.940.89Dejerine-Sottas disease,145900
PMP22120.60.940.89Neuropathy, inflammatory demyelinating,139393
PMP22120.60.940.89Neuropathy, recurrent, with pressure palsies,162500
PMP22120.60.940.89Roussy-Levy syndrome,180800
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
PRX1150.990.98Charcot-Marie-Tooth disease, type 4F,614895
PRX1150.990.98Dejerine-Sottas disease,145900
RAB7A171.311Charcot-Marie-Tooth disease,type 2B,600882
SBF2139.20.990.96Charcot-Marie-Tooth disease, type 4B2,604563
SCN10A194.20.990.99Episodic pain syndrome, familial, 2615551
SCN11A1550.990.97Episodic pain syndrome, familial, 3615552
SCN11A1550.990.97Neuropathy, hereditary sensory and autonomic, type VII,615548
SCN9A160.50.980.96Epilepsy, generalized, with febrile seizures plus, type 7613863
SCN9A160.50.980.96Erythermalgia, primary,133020
SCN9A160.50.980.96Febrile seizures, familial, 3B,613863
SCN9A160.50.980.96HSAN2D, autosomal recessive,243000
SCN9A160.50.980.96Insensitivity to pain, congenital,243000
SCN9A160.50.980.96Paroxysmal extreme pain disorder,167400
SCN9A160.50.980.96Small fiber neuropathy,133020
SCN9A160.50.980.96{Dravet syndrome, modifier of},607208
SH3TC2122.40.990.99Charcot-Marie-Tooth disease, type 4C,601596
SH3TC2122.40.990.99Mononeuropathy of the median nerve, mild,613353
SLC12A6169.610.99Agenesis of the corpus callosum with peripheral neuropathy,218000
SLC52A3124.510.99Brown-Vialetto-Van Laere syndrome 1211530
SLC52A3124.510.99Fazio-Londe disease,211500
SLC5A7135.710.99Neuronopathy, distal hereditary motor, type VIIA,158580
SMN1101.60.990.95Spinal muscular atrophy-1,253300
SMN1101.60.990.95Spinal muscular atrophy-2,253550
SMN1101.60.990.95Spinal muscular atrophy-3,253400
SMN1101.60.990.95Spinal muscular atrophy-4,271150
SPTLC1132.30.980.95Neuropathy, hereditary sensory and autonomic, type IA,162400
SPTLC217810.99Neuropathy, hereditary sensory and autonomic, type IC,613640
SYT2115.810.99Myasthenic syndrome, congenital, 7 presynaptic,616040
TFG123.80.950.92Hereditary motor and sensory neuropathy, Okinawa type,604484
TFG123.80.950.92?Spastic paraplegia 57 autosomal recessive,615658
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
TTR180.311Amyloidosis, hereditary, transthyretin-related,105210
TTR180.311Carpal tunnel syndrome, familial,115430
TTR180.311[Dystransthyretinemic hyperthyroxinemia],145680
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
WNK1182.10.990.98Neuropathy, hereditary sensory and autonomic, type II,201300
WNK1182.10.990.98Pseudohypoaldosteronism, type IIC,614492
YARS138.710.99Charcot-Marie-Tooth disease, dominant intermediate C,608323

Una anàlisi per a cada metge especialista i, al mateix temps, per a tots!

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1) Emplenar la sol·licitud del test.

Necessitem la informació del metge sol·licitant, les dades del pacient (especialment l’identificador de la mostra, la data de naixement i el sexe), i per descomptat seleccionar el test que se sol·licita.

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Embalar la mostra biològica de manera adequada i adjuntar el Full de Sol·licitud.

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Quantitative Genomic Medicine Laboratories (qGenomics)
c/Joan XXIII, 10
08950 – Esplugues del Llobregat

Requisits de les mostres biològiques
  • DNA: >5ug, a una concentració mínima de 50ng/uL, i de bona qualitat (ratio 260/280 >1.8).
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La sang recollida en un tub d’EDTA, l’ADN, la saliva recollida en els contenidors especials que proporcionem, i la sang en paper, són estables a temperatura ambient durant 3 o 4 dies. Les mostres poden enviar-se, convenientment protegides, per correu ordinari o missatger.

Truca’ns al 932 301 270 quan ho tinguis tot preparat i passarem a recollir les teves mostres.