qGenEx TM. Panel Trastornos del Metabolismo

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

qGenEx TM analiza 535 genes asociados a trastornos metabólicos 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 
AASS147.30.990.97Hyperlysinemia,238700
AASS147.30.990.97Saccharopinuria,268700
ABAT10310.99GABA-transaminase deficiency,613163
ABCD1960.770.68Adrenoleukodystrophy,300100
ABCD1960.770.68Adrenomyeloneuropathy, adult,300100
ABCD4155.20.990.98Methylmalonic aciduria and homocystinuria, cblJ type,614857
ABCG5147.90.990.98Sitosterolemia,210250
ABCG8166.10.990.95Sitosterolemia,210250
ABCG8166.10.990.95{Gallbladder disease 4},611465
ABHD12114.90.970.91Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract,612674
ABHD5265.70.990.99Chanarin-Dorfman syndrome,275630
ACACA155.40.980.97Acetyl-CoA carboxylase deficiency,613933
ACAD8149.30.990.99Isobutyryl-CoA dehydrogenase deficiency,611283
ACAD91540.990.96Mitochondrial complex I deficiency due to ACAD9 deficiency,611126
ACADM112.60.980.94Acyl-CoA dehydrogenase, medium chain, deficiency of,201450
ACADS139.90.990.97Acyl-CoA dehydrogenase, short-chain, deficiency of,201470
ACADSB138.40.990.942-methylbutyrylglycinuria,610006
ACADVL128.30.990.97VLCAD deficiency,201475
ACAT1138.10.980.93Alpha-methylacetoacetic aciduria,203750
ACAT2188.511?ACAT2 deficiency,614055
ACO2138.60.960.92Infantile cerebellar-retinal degeneration,614559
ACO2138.60.960.92?Optic atrophy 9616289
ACOX1186.311Peroxisomal acyl-CoA oxidase deficiency,264470
ACSF3146.510.99Combined malonic and methylmalonic aciduria,614265
ACSL4127.60.960.91Mental retardation, X-linked 63300387
ACY1155.90.990.98Aminoacylase 1 deficiency,609924
ADA1180.990.97Adenosine deaminase deficiency, partial,102700
ADA1180.990.97Severe combined immunodeficiency due to ADA deficiency,102700
ADCY5144.80.930.91Dyskinesia, familial, with facial myokymia,606703
ADK106.10.980.93Hypermethioninemia due to adenosine kinase deficiency,614300
ADSL205.910.99Adenylosuccinase deficiency,103050
AGA154.111Aspartylglucosaminuria,208400
AGK137.60.990.97Cataract 38 autosomal recessive,614691
AGK137.60.990.97Sengers syndrome,212350
AGL164.60.990.97Glycogen storage disease IIIa,232400
AGL164.60.990.97Glycogen storage disease IIIb,232400
AGPAT2120.10.980.92Lipodystrophy, congenital generalized, type 1608594
AGPS57.30.930.82Rhizomelic chondrodysplasia punctata, type 3600121
AGXT149.511Hyperoxaluria, primary, type 1259900
AHCY138.610.99Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase,613752
AK1130.70.990.99Hemolytic anemia due to adenylate kinase deficiency,612631
AK21170.980.94Reticular dysgenesis,267500
AKR1D1113.10.970.93Bile acid synthesis defect, congenital, 2235555
ALAD11510.99Porphyria, acute hepatic,612740
ALAD11510.99{Lead poisoning, susceptibility to},612740
ALAS2107.40.990.96Anemia, sideroblastic, 1300751
ALAS2107.40.990.96Protoporphyria, erythropoietic, X-linked,300752
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
ALDH1A3124.90.930.89Microphthalmia, isolated 8615113
ALDH2133.50.990.99Alcohol sensitivity, acute,610251
ALDH2133.50.990.99{Esophageal cancer, alcohol-related, susceptibility to}610251
ALDH2133.50.990.99{Hangover, susceptibility to},610251
ALDH2133.50.990.99{Sublingual nitroglycerin, susceptibility to poor response to}610251
ALDH3A2157.410.99Sjogren-Larsson syndrome,270200
ALDH4A1130.30.990.98Hyperprolinemia, type II,239510
ALDH5A192.30.90.82Succinic semialdehyde dehydrogenase deficiency,271980
ALDH6A1149.310.99Methylmalonate semialdehyde dehydrogenase deficiency,614105
ALDH7A183.10.970.89Epilepsy, pyridoxine-dependent,266100
ALDOA191.80.990.96Glycogen storage disease XII,611881
ALDOB174.30.990.98Fructose intolerance,229600
ALG160.30.530.49Congenital disorder of glycosylation, type Ik,608540
ALG10282.111{Long QT syndrome, acquired, reduced susceptibility to},613688
ALG11182.710.99Congenital disorder of glycosylation, type Ip,613661
ALG12167.311Congenital disorder of glycosylation, type Ig,607143
ALG13107.40.980.94Epileptic encephalopathy, early infantile, 36300884
ALG2119.810.99Myasthenic syndrome, congenital, 14 with tubular aggregates,616228
ALG2119.810.99?Congenital disorder of glycosylation, type Ii,607906
ALG3125.810.99Congenital disorder of glycosylation, type Id,601110
ALG6104.10.950.92Congenital disorder of glycosylation, type Ic,603147
ALG8153.60.960.93Congenital disorder of glycosylation, type Ih,608104
ALG9136.20.990.98Congenital disorder of glycosylation, type Il,608776
ALG9136.20.990.98Gillessen-Kaesbach-Nishimura syndrome,263210
ALOX12B148.40.990.99Ichthyosis, congenital, autosomal recessive 2242100
ALPL163.111Hypophosphatasia, adult,146300
ALPL163.111Hypophosphatasia, childhood,241510
ALPL163.111Hypophosphatasia, infantile,241500
ALPL163.111Odontohypophosphatasia,146300
AMACR161.60.990.98Alpha-methylacyl-CoA racemase deficiency,614307
AMACR161.60.990.98Bile acid synthesis defect, congenital, 4214950
AMN69.20.860.75Megaloblastic anemia-1, Norwegian type,261100
AMPD31460.990.98[AMP deaminase deficiency, erythrocytic],612874
AMT17410.99Glycine encephalopathy,605899
AP1S1121.310.99MEDNIK syndrome,609313
APOC2111.611Hyperlipoproteinemia, type Ib,207750
APRT68.40.990.99Adenine phosphoribosyltransferase deficiency,614723
ARG1172.111Argininemia,207800
ARSA111.510.99Metachromatic leukodystrophy,250100
ARSB144.10.980.95Mucopolysaccharidosis type VI (Maroteaux-Lamy),253200
ASAH11410.980.92Farber lipogranulomatosis,228000
ASAH11410.980.92Spinal muscular atrophy with progressive myoclonic epilepsy,159950
ASL118.40.990.98Argininosuccinic aciduria,207900
ASPA151.70.990.92Canavan disease,271900
ASS1106.20.970.92Citrullinemia,215700
ATIC134.70.990.98AICA-ribosiduria due to ATIC deficiency,608688
ATP6V0A2159.810.99Cutis laxa, autosomal recessive, type IIA,219200
ATP6V0A2159.810.99Wrinkly skin syndrome,278250
ATP7A157.30.990.97Menkes disease,309400
ATP7A157.30.990.97Occipital horn syndrome,304150
ATP7A157.30.990.97Spinal muscular atrophy, distal, X-linked 3300489
ATP7B1730.990.99Wilson disease,277900
ATP8B1169.20.950.93Cholestasis, benign recurrent intrahepatic,243300
ATP8B1169.20.950.93Cholestasis, intrahepatic, of pregnancy, 1147480
ATP8B1169.20.950.93Cholestasis, progressive familial intrahepatic 1211600
AUH89.30.980.923-methylglutaconic aciduria, type I,250950
B3GALNT1127.910.98[Blood group, globoside system],615021
B3GALNT1127.910.98[Blood group, P1PK system, P(k) phenotype],111400
B3GALNT2134.90.920.9Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11615181
B3GALTL113.50.960.92Peters-plus syndrome,261540
B3GAT31010.990.95Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart261540
B3GAT31010.990.95defects,245600
B3GNT112611Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13615287
B4GALT1132.40.990.99Congenital disorder of glycosylation, type IId,607091
B4GALT7116.30.960.95Ehlers-Danlos syndrome with short stature and limb anomalies,130070
BAAT140.30.980.95Hypercholanemia, familial,607748
BCKDHA186.90.990.99Maple syrup urine disease, type Ia,248600
BCKDHB124.40.890.81Maple syrup urine disease, type Ib,248600
BCMO1184.811Hypercarotenemia and vitamin A deficiency, autosomal dominant,115300
BLVRA145.30.990.99Hyperbiliverdinemia,614156
BMP2204.40.990.99Brachydactyly, type A2,112600
BMP2204.40.990.99{HFE hemochromatosis, modifier of},235200
BPGM12611Erythrocytosis due to bisphosphoglycerate mutase deficiency,222800
BTD163.810.99Biotinidase deficiency,253260
C1GALT1C1155.50.990.99Tn polyagglutination syndrome, somatic,300622
C7orf10139.20.950.9Glutaric aciduria III,231690
CANT1157.611Desbuquois dysplasia 1251450
CAT18610.99Acatalasemia,614097
CBS127.10.970.92Homocystinuria, B6-responsive and nonresponsive types,236200
CBS127.10.970.92Thrombosis, hyperhomocysteinemic,236200
CEL143.70.850.83Maturity-onset diabetes of the young, type VIII,609812
CERKL108.10.970.92Retinitis pigmentosa 26608380
CERS3139.710.99Ichthyosis, congenital, autosomal recessive 9615023
CFTR1420.980.96Congenital bilateral absence of vas deferens,277180
CFTR1420.980.96Cystic fibrosis,219700
CFTR1420.980.96Sweat chloride elevation without CF219700
CFTR1420.980.96{Bronchiectasis with or without elevated sweat chloride 1 modifier of},211400
CFTR1420.980.96{Hypertrypsinemia, neonatal}211400
CFTR1420.980.96{Pancreatitis, idiopathic},167800
CHIT1125.80.990.96[Chitotriosidase deficiency],614122
CHKB101.20.990.96Muscular dystrophy, congenital, megaconial type,602541
CHST14190.50.960.94Ehlers-Danlos syndrome, musculocontractural type 1601776
CHST3930.990.96Spondyloepiphyseal dysplasia with congenital joint dislocations,143095
CHST6328.311Macular corneal dystrophy,217800
CHSY1148.30.960.94Temtamy preaxial brachydactyly syndrome,605282
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
CLPB152.70.960.953-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia,616271
COG11360.990.99Congenital disorder of glycosylation, type IIg,611209
COG413910.99Congenital disorder of glycosylation, type IIj,613489
COG5117.80.970.93Congenital disorder of glycosylation, type IIi,613612
COG692.40.930.85Congenital disorder of glycosylation, type IIl,614576
COG692.40.930.85Shaheen syndrome,615328
COG7138.911Congenital disorder of glycosylation, type IIe,608779
COG8124.60.990.96Congenital disorder of glycosylation, type IIh,611182
COMT218.210.99{Panic disorder, susceptibility to},167870
COMT218.210.99{Schizophrenia, susceptibility to},181500
CP1410.940.9Cerebellar ataxia,604290
CP1410.940.9Hemosiderosis, systemic, due to aceruloplasminemia,604290
CP1410.940.9[Hypoceruloplasminemia, hereditary],604290
CPOX124.80.910.85Coproporphyria,121300
CPOX124.80.910.85Harderoporphyria,121300
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
CPT1A192.210.98CPT deficiency, hepatic, type IA,255120
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
CTH188.90.990.99Cystathioninuria,219500
CTH188.90.990.99Homocysteine, total plasma, elevated219500
CTNS138.111Cystinosis, atypical nephropathic,219800
CTNS138.111Cystinosis, late-onset juvenile or adolescent nephropathic,219900
CTNS138.111Cystinosis, nephropathic,219800
CTNS138.111Cystinosis, ocular nonnephropathic,219750
CTSA149.80.990.99Galactosialidosis,256540
CTSC148.611Haim-Munk syndrome,245010
CTSC148.611Papillon-Lefevre syndrome,245000
CTSC148.611Periodontitis 1 juvenile,170650
CTSD183.60.990.98Ceroid lipofuscinosis, neuronal, 10610127
CTSK117.210.99Pycnodysostosis,265800
CUBN141.90.990.98Megaloblastic anemia-1, Finnish type,261100
CYB5R3184.90.980.98Methemoglobinemia, type I,250800
CYB5R3184.90.980.98Methemoglobinemia, type II,250800
CYP11A1141.10.990.97Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete,613743
CYP11B1182.20.990.99Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency,202010
CYP11B1182.20.990.99Aldosteronism, glucocorticoid-remediable,103900
CYP11B2185.810.99Aldosterone to renin ratio raised103900
CYP11B2185.810.99Hypoaldosteronism, congenital, due to CMO I deficiency,203400
CYP11B2185.810.99Hypoaldosteronism, congenital, due to CMO II deficiency,610600
CYP11B2185.810.99{Low renin hypertension, susceptibility to}610600
CYP17A1146.210.9917,20-lyase deficiency, isolated,202110
CYP17A1146.210.9917-alpha-hydroxylase/17,20-lyase deficiency,202110
CYP19A1206.611Aromatase deficiency,613546
CYP19A1206.611Aromatase excess syndrome,139300
CYP1B1132.110.99Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset,231300
CYP1B1132.110.99Peters anomaly,604229
CYP21A215.30.560.3Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency,201910
CYP21A215.30.560.3Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency,201910
CYP27A1188.70.970.95Cerebrotendinous xanthomatosis,213700
CYP27B1137.10.990.98Vitamin D-dependent rickets, type I,264700
CYP2R11510.960.91Rickets due to defect in vitamin D 25-hydroxylation,600081
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
D2HGDH147.90.970.95D-2-hydroxyglutaric aciduria,600721
DAO144.911{Schizophrenia},181500
DBH153.510.99Dopamine beta-hydroxylase deficiency,223360
DBH153.510.99[Dopamine-beta-hydroxylase activity levels, plasma]223360
DBT122.50.970.92Maple syrup urine disease, type II,248600
DCXR168.40.990.95[Pentosuria],260800
DDC118.60.990.96Aromatic L-amino acid decarboxylase deficiency,608643
DDHD1166.10.960.94Spastic paraplegia 28 autosomal recessive,609340
DDOST129.10.990.99?Congenital disorder of glycosylation, type Ir,614507
DGAT1168.90.90.87?Diarrhea 7615863
DGKE157.90.980.93Nephrotic syndrome, type 7615008
DGKE157.90.980.93{Hemolytic uremic syndrome, atypical, susceptibility to, 7},615008
DGUOK134.60.990.98Mitochondrial DNA depletion syndrome 3 (hepatocerebral type),251880
DHCR2420310.99Desmosterolosis,602398
DHCR7176.811Smith-Lemli-Opitz syndrome,270400
DHFR550.90.73Megaloblastic anemia due to dihydrofolate reductase deficiency,613839
DHODH111.810.99Miller syndrome,263750
DLD1420.990.97Dihydrolipoamide dehydrogenase deficiency,246900
DMGDH171.20.990.97Dimethylglycine dehydrogenase deficiency,605850
DNAJC19105.30.970.93-methylglutaconic aciduria, type V,610198
DNM1L131.50.990.96Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission,614388
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
DNMT3B14110.99Immunodeficiency-centromeric instability-facial anomalies syndrome 1242860
DOLK201.80.990.99Congenital disorder of glycosylation, type Im,610768
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
DPYD177.90.950.945-fluorouracil toxicity,274270
DPYD177.90.950.94Dihydropyrimidine dehydrogenase deficiency,274270
DPYS144.70.990.98Dihydropyrimidinuria,222748
EBP101.30.990.96Chondrodysplasia punctata, X-linked dominant,302960
EBP101.30.990.96MEND syndrome,300960
ECHS112810.99Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency,616277
ELOVL4104.80.990.97Ichthyosis, spastic quadriplegia, and mental retardation,614457
ELOVL4104.80.990.97Stargardt disease 3600110
ELOVL4104.80.990.97?Spinocerebellar ataxia 34133190
ENO320210.99?Glycogen storage disease XIII,612932
EPHX1138.40.980.96Diphenylhydantoin toxicity612932
EPHX1138.40.980.96Hypercholanemia, familial,607748
EPHX1138.40.980.96?Fetal hydantoin syndrome607748
EPHX1138.40.980.96{Preeclampsia, susceptibility to},189800
EPHX2129.110.99{Hypercholesterolemia, familial, due to LDLR defect, modifier of},143890
ETFA165.210.99Glutaric acidemia IIA,231680
ETFB128.111Glutaric acidemia IIB,231680
ETFDH116.10.990.98Glutaric acidemia IIC,231680
ETHE186.40.990.94Ethylmalonic encephalopathy,602473
EXT1106.10.990.97Chondrosarcoma,215300
EXT1106.10.990.97Exostoses, multiple, type 1133700
EXT2197.40.990.99Exostoses, multiple, type 2133701
EXT2197.40.990.99?Seizures, scoliosis, and macrocephaly syndrome,616682
FA2H108.90.940.88Spastic paraplegia 35 autosomal recessive,612319
FAH173.110.99Tyrosinemia, type I,276700
FBP1128.610.99Fructose-1,6-bisphosphatase deficiency,229700
FECH142.40.990.99Protoporphyria, erythropoietic, autosomal recessive,177000
FH175.40.920.88Fumarase deficiency,606812
FH175.40.920.88Leiomyomatosis and renal cell cancer,150800
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
FMO3177.110.99Trimethylaminuria,602079
FOLR1166.311Neurodegeneration due to cerebral folate transport deficiency,613068
FTCD99.60.940.88Glutamate formiminotransferase deficiency,229100
FUCA1156.20.990.99Fucosidosis,230000
FUT2186.411[Bombay phenotype]230000
FUT2186.411{Norwalk virus infection, resistance to}230000
FUT2186.411{Vitamin B12 plasma level QTL1},612542
FUT6169.510.99Fucosyltransferase 6 deficiency,613852
G6PC219.411Glycogen storage disease Ia,232200
G6PC3138.411Dursun syndrome,612541
G6PC3138.411Neutropenia, severe congenital 4 autosomal recessive,612541
G6PD1380.990.98Favism,134700
G6PD1380.990.98Hemolytic anemia due to G6PD deficiency,300908
G6PD1380.990.98{Resistance to malaria due to G6PD deficiency},611162
GAA126.110.99Glycogen storage disease II,232300
GAD1132.50.990.97?Cerebral palsy, spastic quadriplegic, 1603513
GALC112.30.970.93Krabbe disease,245200
GALE168.611Galactose epimerase deficiency,230350
GALK1117.50.980.96Galactokinase deficiency with cataracts,230200
GALNS105.40.990.94Mucopolysaccharidosis IVA,253000
GALT16811Galactosemia,230400
GAMT119.10.970.91Cerebral creatine deficiency syndrome 2612736
GATM174.810.99Cerebral creatine deficiency syndrome 3612718
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
GBE1171.80.990.97Glycogen storage disease IV,232500
GBE1171.80.990.97Polyglucosan body disease, adult form,263570
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
GCK155.411Diabetes mellitus, noninsulin-dependent, late onset,125853
GCK155.411Diabetes mellitus, permanent neonatal,606176
GCK155.411Hyperinsulinemic hypoglycemia, familial, 3602485
GCK155.411MODY, type II,125851
GCLC150.40.990.98Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency,230450
GCLC150.40.990.98{Myocardial infarction, susceptibility to},608446
GCLM132.50.980.93{Myocardial infarction, susceptibility to},608446
GCSH38.80.830.62Glycine encephalopathy,605899
GFPT1160.10.990.97Myasthenia, congenital, 12 with tubular aggregates,610542
GK51.70.770.62Glycerol kinase deficiency,307030
GLA87.10.990.97Fabry disease,301500
GLA87.10.990.97Fabry disease, cardiac variant,301500
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
GLDC90.10.910.84Glycine encephalopathy,605899
GLRA1136.511Hyperekplexia, hereditary 1 autosomal dominant or recessive,149400
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
GLUL101.80.990.97Glutamine deficiency, congenital,610015
GLYCTK2390.990.99D-glyceric aciduria,220120
GM2A143.610.99GM2-gangliosidosis, AB variant,272750
GMPPB256.111Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14615350
GMPPB256.111Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14615351
GMPPB256.111Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14615352
GMPS1210.970.92No OMIM phenotype615352
GMPS1210.970.92Leukemia, acute myelogenous,601626
GNE176.50.990.99Nonaka myopathy,605820
GNE176.50.990.99Sialuria,269921
GNMT1800.990.97Glycine N-methyltransferase deficiency,606664
GNPAT159.60.980.95Rhizomelic chondrodysplasia punctata, type 2222765
GNPTAB1920.980.97Mucolipidosis II alpha/beta,252500
GNPTAB1920.980.97Mucolipidosis III alpha/beta,252600
GNPTG156.30.950.89Mucolipidosis III gamma,252605
GNS1230.960.91Mucopolysaccharidosis type IIID,252940
GOT114010.98Aspartate aminotransferase, serum level of, QTL1,614419
GPD1116.20.990.97Hypertriglyceridemia, transient infantile,614480
GPD1L173.410.99Brugada syndrome 2611777
GPHN192.10.980.97Molybdenum cofactor deficiency C,615501
GPI159.410.99Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency,613470
GPX138.20.870.74Hemolytic anemia due to glutathione peroxidase deficiency,614164
GRHPR120.10.840.79Hyperoxaluria, primary, type II,260000
GSS113.110.99Glutathione synthetase deficiency,266130
GSS113.110.99Hemolytic anemia due to glutathione synthetase deficiency,231900
GUSB125.10.90.87Mucopolysaccharidosis VII,253220
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
GYS2183.50.980.94Glycogen storage disease 0 liver,240600
H6PD177.80.990.99Cortisone reductase deficiency 1604931
HADH120.80.970.953-hydroxyacyl-CoA dehydrogenase deficiency,231530
HADH120.80.970.95Hyperinsulinemic hypoglycemia, familial, 4609975
HADHA90.10.950.9Fatty liver, acute, of pregnancy,609016
HADHA90.10.950.9HELLP syndrome, maternal, of pregnancy,609016
HADHA90.10.950.9LCHAD deficiency,609016
HADHA90.10.950.9Trifunctional protein deficiency,609015
HADHB100.90.940.85Trifunctional protein deficiency,609015
HAGH139.30.990.96[Glyoxalase II deficiency],614033
HEXA143.710.99GM2-gangliosidosis, several forms,272800
HEXA143.710.99Tay-Sachs disease,272800
HEXA143.710.99[Hex A pseudodeficiency],272800
HEXB152.60.970.91Sandhoff disease, infantile, juvenile, and adult forms,268800
HFE1550.990.99Hemochromatosis,235200
HFE1550.990.99[Transferrin serum level QTL2],614193
HFE1550.990.99{Alzheimer disease, susceptibility to},104300
HFE1550.990.99{Microvascular complications of diabetes 7},612635
HFE1550.990.99{Porphyria cutanea tarda, susceptibility to},176100
HFE1550.990.99{Porphyria variegata, susceptibility to},176200
HGD143.10.990.98Alkaptonuria,203500
HGSNAT116.90.820.8Mucopolysaccharidosis type IIIC (Sanfilippo C),252930
HGSNAT116.90.820.8Retinitis pigmentosa 73616544
HIBADH108.20.920.9No OMIM phenotype616544
HIBCH76.20.910.723-hydroxyisobutryl-CoA hydrolase deficiency,250620
HK1160.10.990.99Hemolytic anemia due to hexokinase deficiency,235700
HK1160.10.990.99Neuropathy, hereditary motor and sensory, Russe type,605285
HLCS193.111Holocarboxylase synthetase deficiency,253270
HMBS117.710.99Porphyria, acute intermittent,176000
HMBS117.710.99Porphyria, acute intermittent, nonerythroid variant,176000
HMGCL152.40.990.99HMG-CoA lyase deficiency,246450
HMGCS2149.911HMG-CoA synthase-2 deficiency,605911
HMOX1142.10.970.9Heme oxygenase-1 deficiency,614034
HMOX1142.10.970.9{Pulmonary disease, chronic obstructive, susceptibility to},606963
HOGA1154.210.97Hyperoxaluria, primary, type III,613616
HPD151.210.99Hawkinsinuria,140350
HPD151.210.99Tyrosinemia, type III,276710
HPRT175.30.940.84HPRT-related gout,300323
HPRT175.30.940.84Lesch-Nyhan syndrome,300322
HS6ST168.90.930.84{Hypogonadotropic hypogonadism 15 with or without anosmia},614880
HSD11B1190.211Cortisone reductase deficiency 2614662
HSD11B2166.60.870.84Apparent mineralocorticoid excess,218030
HSD17B10120.310.9817-beta-hydroxysteroid dehydrogenase X deficiency,300438
HSD17B10120.310.98?Mental retardation, X-linked syndromic 10300220
HSD17B317211Pseudohermaphroditism, male, with gynecomastia,264300
HSD17B4110.30.940.91D-bifunctional protein deficiency,261515
HSD17B4110.30.940.91Perrault syndrome 1233400
HSD3B2178.2113-beta-hydroxysteroid dehydrogenase, type II, deficiency,201810
HSD3B7154.30.990.93Bile acid synthesis defect, congenital, 1607765
HYAL112511?Mucopolysaccharidosis type IX,601492
IDH2108.80.990.98D-2-hydroxyglutaric aciduria 2613657
IDH3B186.611Retinitis pigmentosa 46612572
IDS119.10.990.98Mucopolysaccharidosis II,309900
IDUA116.90.910.85Mucopolysaccharidosis Ih,607014
IDUA116.90.910.85Mucopolysaccharidosis Ih/s,607015
IDUA116.90.910.85Mucopolysaccharidosis Is,607016
IMPAD1152.60.990.99Chondrodysplasia with joint dislocations, GPAPP type,614078
IMPDH160.20.920.81Leber congenital amaurosis 11613837
IMPDH160.20.920.81Retinitis pigmentosa 10180105
INPP5E105.10.960.91Joubert syndrome 1213300
INPP5E105.10.960.91Mental retardation, truncal obesity, retinal dystrophy, and micropenis,610156
INPPL1136.50.980.95Opsismodysplasia,258480
ISPD1200.950.85Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7614643
ISPD1200.950.85Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7616052
IVD1260.990.99Isovaleric acidemia,243500
KMT2A173.80.990.98Leukemia, myeloid/lymphoid or mixed-lineage243500
KMT2A173.80.990.98Wiedemann-Steiner syndrome,605130
KMT2D162.10.990.99Kabuki syndrome 1147920
L2HGDH139.80.980.96L-2-hydroxyglutaric aciduria,236792
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
LCAT160.70.990.96Fish-eye disease,136120
LCAT160.70.990.96Norum disease,245900
LCT146.70.990.98Lactase deficiency, congenital,223000
LDHA60.10.920.86Glycogen storage disease XI,612933
LDHB115.90.970.86[Lactate dehydrogenase-B deficiency],614128
LFNG95.60.840.82?Spondylocostal dysostosis 3 autosomal recessive,609813
LIPA129.10.960.94Cholesteryl ester storage disease,278000
LIPA129.10.960.94Wolman disease,278000
LIPC134.60.990.99Hepatic lipase deficiency,614025
LIPC134.60.990.99[High density lipoprotein cholesterol level QTL 12],612797
LIPC134.60.990.99{Diabetes mellitus, noninsulin-dependent},125853
LMBRD181.30.890.81Methylmalonic aciduria and homocystinuria, cblF type,277380
LPIN1144.70.990.94Myoglobinuria, acute recurrent, autosomal recessive,268200
LPIN2129.60.990.99Majeed syndrome,609628
LPL183.310.99Combined hyperlipidemia, familial,144250
LPL183.310.99Lipoprotein lipase deficiency,238600
LPL183.310.99[High density lipoprotein cholesterol level QTL 11]238600
LRAT32410.99Leber congenital amaurosis 14613341
LRAT32410.99Retinal dystrophy, early-onset severe,613341
LRAT32410.99Retinitis pigmentosa, juvenile,613341
LTC4S60.50.790.64Leukotriene C4 synthase deficiency,614037
LYST151.30.970.94Chediak-Higashi syndrome,214500
MAN1B1156.20.990.99Mental retardation, autosomal recessive 15614202
MAN2B1137.20.980.96Mannosidosis, alpha-, types I and II,248500
MANBA144.20.990.95Mannosidosis, beta,248510
MAOA142.810.99Brunner syndrome,300615
MAOA142.810.99{Antisocial behavior},300615
MAT1A196.40.990.96Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III300615
MAT1A196.40.990.96deficiency,250850
MAT1A196.40.990.96Methionine adenosyltransferase deficiency, autosomal recessive,250850
MCCC1169.50.990.993-Methylcrotonyl-CoA carboxylase 1 deficiency,210200
MCCC21420.990.983-Methylcrotonyl-CoA carboxylase 2 deficiency,210210
MCEE110.411Methylmalonyl-CoA epimerase deficiency,251120
MCOLN1166.60.980.96Mucolipidosis IV,252650
MFSD8137.10.990.98Ceroid lipofuscinosis, neuronal, 7610951
MFSD8137.10.990.98Macular dystrophy with central cone involvement,616170
MGAT2168.810.99Congenital disorder of glycosylation, type IIa,212066
MINPP1166.80.980.94Thyroid carcinoma, follicular,188470
MLYCD93.20.940.91Malonyl-CoA decarboxylase deficiency,248360
MMAA201.90.990.99Methylmalonic aciduria, vitamin B12-responsive,251100
MMAB121.20.990.99Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB251100
MMAB121.20.990.99complementation type,251110
MMACHC205.311Methylmalonic aciduria and homocystinuria, cblC type,277400
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
MOCS192.20.980.93Molybdenum cofactor deficiency A,252150
MOCS2156.70.990.98Molybdenum cofactor deficiency B,252160
MOGS121.30.990.98Congenital disorder of glycosylation, type IIb,606056
MPDU1131.910.99Congenital disorder of glycosylation, type If,609180
MPI137.411Congenital disorder of glycosylation, type Ib,602579
MSMO145.60.870.75Microcephaly, congenital cataract, and psoriasiform dermatitis,616834
MTHFD1157.80.990.97{Abruptio placentae, susceptibility to}616834
MTHFD1157.80.990.97{Spina bifida, folate-sensitive, susceptibility to},601634
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
MTM1115.40.970.89Myotubular myopathy, X-linked,310400
MTMR2130.10.990.98Charcot-Marie-Tooth disease, type 4B1,601382
MTR158.90.990.99Homocystinuria-megaloblastic anemia, cblG complementation type,250940
MTR158.90.990.99{Neural tube defects, folate-sensitive, susceptibility to},601634
MTRR1430.990.98Homocystinuria-megaloblastic anemia, cbl E type,236270
MTRR1430.990.98{Neural tube defects, folate-sensitive, susceptibility to},601634
MUT130.10.990.95Methylmalonic aciduria, mut(0) type,251000
MVK146.110.99Hyper-IgD syndrome,260920
MVK146.110.99Mevalonic aciduria,610377
MVK146.110.99Porokeratosis 3 multiple types,175900
NAGA162.611Kanzaki disease,609242
NAGA162.611Schindler disease, type I,609241
NAGA162.611Schindler disease, type III,609241
NAGLU123.70.930.91Mucopolysaccharidosis type IIIB (Sanfilippo B),252920
NAGLU123.70.930.91?Charcot-Marie-Tooth disease, axonal, type 2V,616491
NAGS80.60.970.91N-acetylglutamate synthase deficiency,237310
NEU119.80.730.44Sialidosis, type I,256550
NEU119.80.730.44Sialidosis, type II,256550
NMNAT1143.80.990.97Leber congenital amaurosis 9608553
NNT1570.990.97Glucocorticoid deficiency 4614736
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
NSD1172.310.99Beckwith-Wiedemann syndrome,130650
NSD1172.310.99Leukemia, acute myeloid,601626
NSD1172.310.99Sotos syndrome 1117550
NSDHL205.20.990.99CHILD syndrome,308050
NSDHL205.20.990.99CK syndrome,300831
NT5C3A66.50.870.74Anemia, hemolytic, due to UMPH1 deficiency,266120
NT5E192.110.99Calcification of joints and arteries,211800
OAT94.10.760.68Gyrate atrophy of choroid and retina with or without ornithinemia,258870
OCRL152.20.990.97Dent disease 2300555
OCRL152.20.990.97Lowe syndrome,309000
OPA31220.990.963-methylglutaconic aciduria, type III,258501
OPA31220.990.96Optic atrophy 3 with cataract,165300
OPLAH114.70.990.985-oxoprolinase deficiency,260005
OTC143.910.99Ornithine transcarbamylase deficiency,311250
OXCT1129.10.990.97Succinyl CoA:3-oxoacid CoA transferase deficiency,245050
PAH191.311Phenylketonuria,261600
PAH191.311[Hyperphenylalaninemia, non-PKU mild],261600
PANK2177.50.990.96HARP syndrome,607236
PANK2177.50.990.96Neurodegeneration with brain iron accumulation 1234200
PC162.80.990.97Pyruvate carboxylase deficiency,266150
PCBD1124.70.990.99Hyperphenylalaninemia, BH4-deficient, D,264070
PCCA116.60.960.91Propionicacidemia,606054
PCCB160.50.970.95Propionicacidemia,606054
PEPD121.40.990.98Prolidase deficiency,170100
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
PEX11B123.30.990.99Peroxisome biogenesis disorder 14B,614920
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
PEX2169.711Peroxisome biogenesis disorder 5A (Zellweger),614866
PEX2169.711Peroxisome biogenesis disorder 5B,614867
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
PEX7138.50.890.85Peroxisome biogenesis disorder 9B,614879
PEX7138.50.890.85Rhizomelic chondrodysplasia punctata, type 1215100
PFKM175.310.99Glycogen storage disease VII,232800
PGAM2168.711Glycogen storage disease X,261670
PGAP2186.111Hyperphosphatasia with mental retardation syndrome 3614207
PGK1600.920.81Phosphoglycerate kinase 1 deficiency,300653
PGM1143.10.990.99Congenital disorder of glycosylation, type It,614921
PHGDH138.610.99Neu-Laxova syndrome 1256520
PHGDH138.610.99Phosphoglycerate dehydrogenase deficiency,601815
PHKA1132.80.980.96Muscle glycogenosis,300559
PHKA2130.110.99Glycogen storage disease, type IXa1,306000
PHKA2130.110.99Glycogen storage disease, type IXa2,306000
PHYH86.50.980.92Refsum disease,266500
PIGA102.10.920.84Multiple congenital anomalies-hypotonia-seizures syndrome 2300868
PIGA102.10.920.84Paroxysmal nocturnal hemoglobinuria, somatic,300818
PIGL136.610.98CHIME syndrome,280000
PIGM160.811Glycosylphosphatidylinositol deficiency,610293
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
PIGV171.111Hyperphosphatasia with mental retardation syndrome 1239300
PIK3CA136.50.990.98Breast cancer, somatic,114480
PIK3CA136.50.990.98CLOVE syndrome, somatic,612918
PIK3CA136.50.990.98Colorectal cancer, somatic,114500
PIK3CA136.50.990.98Cowden syndrome 5615108
PIK3CA136.50.990.98Gastric cancer, somatic,613659
PIK3CA136.50.990.98Hepatocellular carcinoma, somatic,114550
PIK3CA136.50.990.98Keratosis, seborrheic, somatic,182000
PIK3CA136.50.990.98Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic,602501
PIK3CA136.50.990.98Nevus, epidermal, somatic,162900
PIK3CA136.50.990.98Nonsmall cell lung cancer, somatic,211980
PIK3CA136.50.990.98Ovarian cancer, somatic,167000
PIK3R11440.990.96Immunodeficiency 36616005
PIK3R11440.990.96SHORT syndrome,269880
PIK3R11440.990.96?Agammaglobulinemia 7 autosomal recessive,615214
PIK3R296.50.890.86Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387
PIK3R5123.110.99Ataxia-oculomotor apraxia 3615217
PIKFYVE161.30.990.97Corneal fleck dystrophy,121850
PIP5K1C122.30.960.94Lethal congenital contractural syndrome 3611369
PKLR182.710.99Adenosine triphosphate, elevated, of erythrocytes,102900
PKLR182.710.99Pyruvate kinase deficiency,266200
PLA2G5133.811[Fleck retina, familial benign],228980
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
PLA2G7137.20.990.97Platelet-activating factor acetylhydrolase deficiency,614278
PLA2G7137.20.990.97{Asthma, susceptibility to},600807
PLA2G7137.20.990.97{Atopy, susceptibility to},147050
PLCB1177.30.990.99Epileptic encephalopathy, early infantile, 12613722
PLCB4147.90.990.95Auriculocondylar syndrome 2614669
PLCD1124.10.990.97Nail disorder, nonsyndromic congenital, 3 (leukonychia),151600
PLCE1171.10.990.98Nephrotic syndrome, type 3610725
PLCG2133.610.99Autoinflammation, antibody deficiency, and immune dysregulation syndrome,614878
PLCG2133.610.99Familial cold autoinflammatory syndrome 3614468
PLIN192.40.970.89Lipodystrophy, familial partial, type 4613877
PLOD1149.810.99Ehlers-Danlos syndrome, type VI,225400
PLOD2125.30.940.88Bruck syndrome 2609220
PLOD3125.30.990.98Lysyl hydroxylase 3 deficiency,612394
PMM2178.40.990.99Congenital disorder of glycosylation, type Ia,212065
PNLIP197.810.98Pancreatic lipase deficiency,614338
PNMT96.90.980.96?Hypertension, essential,145500
PNP148.510.99Immunodeficiency due to purine nucleoside phosphorylase deficiency,613179
PNPLA2127.60.990.97Neutral lipid storage disease with myopathy,610717
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
PNPO84.210.99Pyridoxamine 5'-phosphate oxidase deficiency,610090
POLR3A162.210.99Leukodystrophy, hypomyelinating, 7 with or without oligodontia and/or hypogonadotropic610090
POLR3A162.210.99hypogonadism,607694
POLR3B168.90.990.98Leukodystrophy, hypomyelinating, 8 with or without oligodontia and/or hypogonadotropic607694
POLR3B168.90.990.98hypogonadism,614381
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
PPM1K174.30.990.99?Maple syrup urine disease, mild variant,615135
PPOX108.10.990.97Porphyria variegata,176200
PPT1190.411Ceroid lipofuscinosis, neuronal, 1256730
PRODH95.80.880.82Hyperprolinemia, type I,239500
PRODH95.80.880.82{Schizophrenia, susceptibility to, 4},600850
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
PSAP126.70.990.98Combined SAP deficiency,611721
PSAP126.70.990.98Gaucher disease, atypical,610539
PSAP126.70.990.98Krabbe disease, atypical,611722
PSAP126.70.990.98Metachromatic leukodystrophy due to SAP-b deficiency,249900
PSAT149.50.90.74Neu-Laxova syndrome 2616038
PSAT149.50.90.74?Phosphoserine aminotransferase deficiency,610992
PSPH139.80.990.94Phosphoserine phosphatase deficiency,614023
PTEN152.40.990.98Bannayan-Riley-Ruvalcaba syndrome,153480
PTEN152.40.990.98Cowden syndrome 1158350
PTEN152.40.990.98Endometrial carcinoma, somatic,608089
PTEN152.40.990.98Lhermitte-Duclos syndrome,158350
PTEN152.40.990.98Macrocephaly/autism syndrome,605309
PTEN152.40.990.98Malignant melanoma, somatic,155600
PTEN152.40.990.98PTEN hamartoma tumor syndrome155600
PTEN152.40.990.98Squamous cell carcinoma, head and neck, somatic,275355
PTEN152.40.990.98VATER association with macrocephaly and ventriculomegaly,276950
PTEN152.40.990.98{Glioma susceptibility 2},613028
PTEN152.40.990.98{Meningioma},607174
PTEN152.40.990.98{Prostate cancer, somatic},176807
PTGIS140.10.980.95Hypertension, essential,145500
PTPN11101.20.960.9LEOPARD syndrome 1151100
PTPN11101.20.960.9Leukemia, juvenile myelomonocytic, somatic,607785
PTPN11101.20.960.9Metachondromatosis,156250
PTPN11101.20.960.9Noonan syndrome 1163950
PTS128.20.970.89Hyperphenylalaninemia, BH4-deficient, A,261640
PYCR1105.40.990.94Cutis laxa, autosomal recessive, type IIB,612940
PYCR1105.40.990.94Cutis laxa, autosomal recessive, type IIIB,614438
PYGL192.410.99Glycogen storage disease VI,232700
PYGM160.110.99McArdle disease,232600
QDPR88.510.99Hyperphenylalaninemia, BH4-deficient, C,261630
RDH12101.90.980.91Leber congenital amaurosis 13612712
RDH5160.710.99Fundus albipunctatus,136880
RFT1118.80.990.97Congenital disorder of glycosylation, type In,612015
RPE65150.70.990.99Leber congenital amaurosis 2204100
RPE65150.70.990.99Retinitis pigmentosa 20613794
RPIA138.10.940.91?Ribose 5-phosphate isomerase deficiency,608611
SARDH132.50.920.91[Sarcosinemia],268900
SAT1162.60.990.98No OMIM phenotype268900
SAT1162.60.990.98Keratosis follicularis spinulosa decalvans (Gimelli -2002 Hum Genet 111,235)268900
SC5D227.60.990.98Lathosterolosis,607330
SCARB2138.90.990.98Epilepsy, progressive myoclonic 4 with or without renal failure,254900
SCP2124.80.990.96Leukoencephalopathy with dystonia and motor neuropathy,613724
SEPSECS1850.990.99Pontocerebellar hypoplasia type 2D,613811
SERAC1125.50.980.943-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome,614739
SGSH146.80.970.94Mucopolysaccharidisis type IIIA (Sanfilippo A),252900
SI110.40.960.9Sucrase-isomaltase deficiency, congenital,222900
SLC16A1167.20.990.97Erythrocyte lactate transporter defect,245340
SLC16A1167.20.990.97Hyperinsulinemic hypoglycemia, familial, 7610021
SLC16A1167.20.990.97Monocarboxylate transporter 1 deficiency,616095
SLC17A5123.80.970.93Salla disease,604369
SLC17A5123.80.970.93Sialic acid storage disorder, infantile,269920
SLC22A5164.511Carnitine deficiency, systemic primary,212140
SLC25A184.70.970.9Combined D-2- and L-2-hydroxyglutaric aciduria,615182
SLC25A13125.30.980.93Citrullinemia, adult-onset type II,603471
SLC25A13125.30.980.93Citrullinemia, type II, neonatal-onset,605814
SLC25A15228.70.980.95Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome,238970
SLC25A1981.40.990.95Microcephaly, Amish type,607196
SLC25A1981.40.990.95Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type),613710
SLC25A20115.110.99Carnitine-acylcarnitine translocase deficiency,212138
SLC25A38117.70.990.96Anemia, sideroblastic, 2 pyridoxine-refractory,205950
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
SLC2A2189.510.99Fanconi-Bickel syndrome,227810
SLC2A2189.510.99{Diabetes mellitus, noninsulin-dependent},125853
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
SLC35A11460.990.97Congenital disorder of glycosylation, type IIf,603585
SLC35C12300.990.97Congenital disorder of glycosylation, type IIc,266265
SLC37A414110.99Glycogen storage disease Ib,232220
SLC37A414110.99Glycogen storage disease Ic,232240
SLC39A488.40.990.96Acrodermatitis enteropathica,201100
SLC3A11920.990.98Cystinuria,220100
SLC46A1105.40.980.94Folate malabsorption, hereditary,229050
SLC52A1222.111Riboflavin deficiency,615026
SLC52A2196.411Brown-Vialetto-Van Laere syndrome 2614707
SLC52A3124.510.99Brown-Vialetto-Van Laere syndrome 1211530
SLC52A3124.510.99Fazio-Londe disease,211500
SLC5A1160.811Glucose/galactose malabsorption,606824
SLC5A2136.310.99Renal glucosuria,233100
SLC6A861.10.920.82Cerebral creatine deficiency syndrome 1300352
SLC7A7127.211Lysinuric protein intolerance,222700
SLC7A9152.610.98Cystinuria,220100
SLCO1B153.40.920.85Hyperbilirubinemia, Rotor type, digenic,237450
SLCO1B356.80.930.78Hyperbilirubinemia, Rotor type, digenic,237450
SMPD1134.30.990.97Niemann-Pick disease, type A,257200
SMPD1134.30.990.97Niemann-Pick disease, type B,607616
SMS70.10.880.76Mental retardation, X-linked, Snyder-Robinson type,309583
SOD1179.710.99Amyotrophic lateral sclerosis 1105400
SPR183.90.970.89Dystonia, dopa-responsive, due to sepiapterin reductase deficiency,612716
SPTLC1132.30.980.95Neuropathy, hereditary sensory and autonomic, type IA,162400
SPTLC217810.99Neuropathy, hereditary sensory and autonomic, type IC,613640
SRD5A291.810.97Pseudovaginal perineoscrotal hypospadias,264600
SRD5A3166.90.990.99Congenital disorder of glycosylation, type Iq,612379
SRD5A3166.90.990.99Kahrizi syndrome,612713
ST3GAL3193.711Epileptic encephalopathy, early infantile, 15615006
ST3GAL3193.711Mental retardation, autosomal recessive 12611090
ST3GAL5138.40.950.94Amish infantile epilepsy syndrome,609056
STAR134.50.990.99Lipoid adrenal hyperplasia,201710
STS111.80.990.96Ichthyosis, X-linked,308100
SUCLA269.40.920.82Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic308100
SUCLA269.40.920.82aciduria),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
SUMF1138.40.970.92Multiple sulfatase deficiency,272200
SUOX219.511Sulfite oxidase deficiency,272300
TALDO1143.210.99Transaldolase deficiency,606003
TANGO216110.99Metabolic encephalomyopathic crises,recurrent,with rhabdomyolysis,cardiac arrhythmias and606003
TANGO216110.99neurodegeneration,616878
TAT141.911Tyrosinemia, type II,276600
TAZ126.310.98Barth syndrome,302060
TBXAS1161.111Ghosal hematodiaphyseal syndrome,231095
TBXAS1161.111?Thromboxane synthase deficiency,614158
TCIRG1125.60.950.88Osteopetrosis, autosomal recessive 1259700
TCN2192.411Transcobalamin II deficiency,275350
TECR96.40.990.97Mental retardation, autosomal recessive 14614020
TH83.60.970.92Segawa syndrome, recessive,605407
TK2109.90.920.87Mitochondrial DNA depletion syndrome 2 (myopathic type),609560
TMEM165122.20.980.96Congenital disorder of glycosylation, type IIk,614727
TMEM51400.930.9Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10615041
TMLHE116.60.990.96{Autism,susceptibility to,X-linked 6},300872
TPI1109.80.980.96Hemolytic anemia due to triosephosphate isomerase deficiency,615512
TPMT49.30.920.8{Thiopurines,poor metabolism of,1},610460
TPP1158.711Ceroid lipofuscinosis, neuronal, 2204500
TPP1158.711Spinocerebellar ataxia, autosomal recessive 7609270
TREH153.50.990.95Trehalase deficiency,612119
TUSC3153.50.990.98Mental retardation, autosomal recessive 7611093
TYMP96.70.960.88Mitochondrial DNA depletion syndrome 1 (MNGIE type),603041
TYR205.610.99Albinism, oculocutaneous, type IA,203100
TYR205.610.99Albinism, oculocutaneous, type IB,606952
TYR205.610.99Waardenburg syndrome/albinism, digenic,103470
TYR205.610.99[Skin/hair/eye pigmentation 3 blue/green eyes],601800
TYR205.610.99[Skin/hair/eye pigmentation 3 light/dark/freckling skin],601800
TYR205.610.99{Melanoma, cutaneous malignant, susceptibility to, 8},601800
TYRP1209.711Albinism, oculocutaneous, type III,203290
TYRP1209.711[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)],612271
UGT1A1244.710.99Crigler-Najjar syndrome, type I,218800
UGT1A1244.710.99Crigler-Najjar syndrome, type II,606785
UGT1A1244.710.99Hyperbilirubinemia, familial transient neonatal,237900
UGT1A1244.710.99[Bilirubin, serum level of, QTL1],601816
UGT1A1244.710.99[Gilbert syndrome],143500
UMPS196.510.99Orotic aciduria,258900
UPB1177.211Beta-ureidopropionase deficiency,613161
UROC115010.99?Urocanase deficiency,276880
UROD178.210.99Porphyria cutanea tarda,176100
UROD178.210.99Porphyria, hepatoerythropoietic,176100
UROS119.911Porphyria, congenital erythropoietic,263700
XDH119.910.99Xanthinuria, type I,278300

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