Reference |
Disease |
|---|---|
| SEQ1396 | - |
| SEQ1113 | Tay-Sachs disease |
| SEQ9681 | Wilson disease |
| SEQ8921 | Rett syndrome |
| SEQ8923 | Hypophosphatemic rickets, X-linked |
| SEQ8461 | Pseudohypoparathyroidism |
| SEQ8451 | Pseudohypoaldosteronism type 1 |
| SEQ8453 | Pseudohypoaldosteronism type 1 |
| SEQ8411 | Erythropoietic protoporphyria |
| SEQ8412 | Erythropoietic protoporphyria |
| SEQ8341 | Acute Intermittent Porphyria |
| SEQ8351 | Cutaneous Porphyria tardive |
| SEQ8361 | Congenital erythropoietic porphyria |
| SEQ8371 | Porphyria variegata |
| SEQ8291 | Pycnodysostosis |
| SEQ8132 | Familial Hypokalemic Periodic Paralysis |
| SEQ7821 | Autosomal recessive malignant osteopetrosis |
| SEQ7822 | Autosomal recessive malignant osteopetrosis Type 2 |
| SEQ7832 | Osteoporosis, autosomal dominant type 2 |
| SEQ7811 | Osteopetrosis - renal tubular acidosis |
| SEQ7721 | Progressive external ophthalmoplegia |
| SEQ7731 | Autosomal dominant progressive external ophthalmoplegia |
| SEQ7732 | Autosomal dominant progressive external ophthalmoplegia |
| SEQ7503 | Niemann-Pick disease (type C1 and D) |
| SEQ7504 | Niemann-Pick disease (type C2) |
| SEQ7505 | Niemann-Pick disease (types C and D) |
| SEQ7501 | Niemann-Pick disease |
| SEQ7502 | Niemann-Pick disease (Type A and B) |
| SEQ7245 | Mucopolysaccharidosis Type IIIC (Sanfilippo B Syndrome) |
| SEQ7246 | Mucopolysaccharidosis Type IIIC (Sanfilippo C Syndrome) |
| SEQ7247 | Mucopolysaccharidosis Type IIID |
| SEQ7248 | Mucopolysaccharidosis Type IV B |
| SEQ7249 | Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) |
| SEQ7232 | Mucolipidosis |
| SEQ7233 | Mucolipidosis |
| SEQ7241 | Mucopolysaccharidosis |
| SEQ7242 | Mucopolysaccharidosis Type 1H, 1S (Hurler Syndrome) |
| SEQ7243 | Mucopolysaccharidosis Type II (Hunter Syndrome) |
| SEQ7221 | Muckle-Wells syndrome |
| SEQ7230 | Mucolipidosis type 4 |
| SEQ7231 | Mucolipidosis |
| SEQ6959 | Neuronal ceroid lipofuscinosis |
| SEQ6960 | Neuronal ceroid lipofuscinosis |
| SEQ6952 | Neuronal ceroid lipofuscinosis |
| SEQ6953 | Neuronal ceroid lipofuscinosis |
| SEQ6954 | Neuronal ceroid lipofuscinosis |
| SEQ6955 | Neuronal ceroid lipofuscinosis |
| SEQ6956 | Neuronal ceroid lipofuscinosis |
| SEQ6957 | Neuronal ceroid lipofuscinosis |
| SEQ6958 | Neuronal ceroid lipofuscinosis |
| SEQ6936 | Acquired partial lipodystrophy (Barraquer-Simons syndrome) |
| SEQ6931 | Lipodystrophies |
| SEQ6861 | Metachromatic leukodystrophy |
| SEQ6621 | Krabbe disease |
| SEQ6131 | Homocystinuria due to cystathionine beta-synthase deficiency |
| SEQ6132 | Homocystinuria due to cystathionine beta-synthase deficiency |
| SEQ6077 | Hypolipidemias |
| SEQ6078 | Hypophosphatasia |
| SEQ6081 | Hypophosphatasia |
| SEQ6091 | Dominant hypophosphatemia with nephrolithiasis or osteoporosis |
| SEQ6051 | Type II hyperprolinemia |
| SEQ6055 | Familial hypertriglyceridemia |
| SEQ6061 | Benign familial hypobetalipoproteinemia |
| SEQ6041 | Type 1 hyperlipoproteinemia |
| SEQ6042 | Type 1 hyperlipoproteinemia |
| SEQ6045 | Hyperhomocysteinemia |
| SEQ6022 | Hyperphenylalaninemia due to BH4 deficiency |
| SEQ6029 | Hyperhomocysteinemia |
| SEQ6030 | Congenital hyperinsulism |
| SEQ6031 | Combined familial hyperlipidemia |
| SEQ6037 | Mixed hyperlipidemias |
| SEQ5991 | Familial hypercholesterolemia |
| SEQ5992 | Familial hypercholesterolemia |
| SEQ6001 | Autosomal recessive familial hypercholesterolemia |
| SEQ5965 | Hemochromatosis |
| SEQ5721 | Type X glycogenosis (Glycogenosis due to phosphoglycerate mutase deficiency) |
| SEQ5731 | Renal glucosuria |
| SEQ5716 | Type IX glycogenosis |
| SEQ5717 | Type IXd glycogenosis |
| SEQ5718 | Type V glycogenosis |
| SEQ5719 | Glycogenosis type V |
| SEQ5720 | Glycogenosis type VI (Hers disease) |
| SEQ5701 | Glycogenosis due to liver and muscle phosphorylase kinase deficiency |
| SEQ5711 | Glycogenosis type 0a |
| SEQ5712 | Glycogenosis type Ib, Ic |
| SEQ5713 | Type II glycogenosis |
| SEQ5714 | Type III glycogenosis |
| SEQ5715 | Type IV glycogenosis |
| SEQ5675 | Gaucher disease |
| SEQ5681 | Gilbert syndrome |
| SEQ5610 | Phytosterolemia |
| SEQ5641 | Galactosemia |
| SEQ5651 | Galactosialidosis |
| SEQ5661 | GM1 gangliosidosis type 1 |
| SEQ5431 | Fructosemia |
| SEQ5501 | Fabry disease |
| SEQ5521 | Fanconi-Bickel syndrome |
| SEQ5402 | Cystic fibrosis |
| SEQ5405 | Cystic Fibrosis and Differential Diagnosis |
| SEQ5401 | Cystic fibrosis |
| SEQ5051 | Neutral lipid accumulation disease with myopathy without ichthyosis |
| SEQ4982 | Glycine encephalopathy / Nonketotic hyperglycemia |
| SEQ4983 | Glycine encephalopathy / Nonketotic hyperglycemia |
| SEQ4984 | Glycine encephalopathy / Nonketotic hyperglycemia |
| SEQ4971 | Ethylmalonic encephalopathy |
| SEQ4981 | Glycine encephalopathy / Nonketotic hyperglycemia |
| SEQ4951 | Encephalopathy due to a deficiency of prosaposin |
| SEQ4621 | Dubin-Johnson syndrome |
| SEQ4561 | Childhood Neuroaxonal Dystrophy |
| SEQ4195 | Global dyslipidemia |
| SEQ4074 | MODY5 diabetes |
| SEQ4064 | Transient neonatal diabetes mellitus |
| SEQ4065 | Diabetes mellitus, permanent neonatal (PNDM) |
| SEQ4070 | MODY diabetes |
| SEQ4071 | MODY1 diabetes |
| SEQ4072 | MODY2 diabetes |
| SEQ4073 | MODY3 diabetes |
| SEQ4041 | Autosomal Nephrogenic Diabetes Insipidus |
| SEQ4042 | X-linked Nephrogenic Diabetes Insipidus |
| SEQ4051 | Neurohypophyseal diabetes insipidus |
| SEQ4061 | Permanent neonatal diabetes mellitus |
| SEQ4062 | Transient neonatal diabetes mellitus |
| SEQ4063 | Transient neonatal diabetes mellitus |
| SEQ4015 | Acral skin scaling, syndrome |
| SEQ4035 | Epstein syndrome |
| SEQ3991 | Dent disease |
| SEQ3992 | Dent disease |
| SEQ3976 | Frontotemporal dementias |
| SEQ3911 | Familial LCAT (lecithin-cholesterol-acyl-transferase) deficiency |
| SEQ3951 | Partial methylmalonyl-CoA mutase deficiency, mutation c.322C> T gene MUT |
| SEQ3873 | Pulmonary surfactant deficiency |
| SEQ3875 | Pulmonary surfactant deficiency |
| SEQ3876 | Pulmonary surfactant deficiency |
| SEQ3881 | Zinc deficiency, infantile, transitory |
| SEQ3841 | Mitochondrial trifunctional protein deficiency |
| SEQ3851 | Succinic semialdehyde dehydrogenase deficiency |
| SEQ3861 | Succinyl-CoA acetoacetate transferase deficiency |
| SEQ3872 | Pulmonary surfactant deficiency |
| SEQ3801 | Ornithine Carbamyl Transferase Deficiency |
| SEQ3811 | Pyruvate carboxylase deficiency |
| SEQ3821 | Pyruvate dehydrogenase E1-alpha deficiency |
| SEQ3781 | Creatinine deficiency |
| SEQ3721 | Phosphoenolpyruvate Carboxykinase Deficiency |
| SEQ3731 | Fructose-1,6 diphosphatase deficiency |
| SEQ3741 | Galactokinase deficiency |
| SEQ3751 | Galactose epimerase deficiency |
| SEQ3761 | Glucose-6-phosphate dehydrogenase deficiency |
| SEQ3771 | Glutathione synthetase deficiency |
| SEQ3683 | Carnitine palmitoyltransferase II deficiency |
| SEQ3691 | CoA-dehydrogenase deficiency (Acidemi isobutyric) |
| SEQ3711 | Bifunctional enzyme deficiency |
| SEQ3671 | Butyryl cholinesterase deficiency |
| SEQ3680 | Carnitine palmitoyltransferase deficiency |
| SEQ3681 | Carnitine palmitoyltransferase deficiency |
| SEQ3621 | Long-chain fatty acid 3-hydroxyacyl-CoA dehydrogenase deficiency, mutation p.Glu510Gln HADHA gene |
| SEQ3622 | Long-chain fatty acid 3-hydroxyacyl-CoA dehydrogenase deficiency |
| SEQ3631 | Very long chain fatty acid acyl-CoA dehydrogenase deficiency |
| SEQ3641 | Short chain acyl-CoA dehydrogenase deficiency |
| SEQ3571 | Mitochondrial complex IV deficiency |
| SEQ3581 | Glucose transporter type 1 deficiency |
| SEQ3591 | Isolated type IB growth hormone deficiency |
| SEQ3607 | Congenital enterokinase deficiency |
| SEQ3511 | ACYL-CoA dehydrogenase deficiency |
| SEQ3531 | Purine nucleoside phosphorylase deficiency |
| SEQ3541 | Sulfite oxidase deficiency caused by molybdenum cofactor deficiency |
| SEQ3551 | Xanthine dehydrogenase deficiency |
| SEQ3461 | Biotinidase deficiency |
| SEQ3471 | Corticosterone Methyloxidase Deficiency Type I |
| SEQ3481 | CYP1A2 deficiency |
| SEQ3491 | DCK deficiency |
| SEQ3501 | Dihydropyrimidine dehydrogenase deficiency (5-Fluorouracil toxicity) |
| SEQ3412 | Congenital lactase deficiency |
| SEQ3431 | AMACR deficiency |
| SEQ3441 | Apolipoprotein A4 deficiency |
| SEQ3451 | Apolipoprotein C-II deficiency |
| SEQ3363 | Congenital Glycosylation Defect type 1C |
| SEQ3391 | Congenital sucrase-isomaltase deficiency |
| SEQ3401 | Congenital deficiency of sacarase-isomaltase |
| SEQ3411 | Congenital lactase deficiency, c.4170T>A (p.Tyr1390Ter) LCT gene |
| SEQ3361 | Congenital Glycosylation Defect type 1A |
| SEQ3362 | Congenital Glycosylation Defect type 1B |
| SEQ3123 | Crigler-Najjar syndrome |
| SEQ3031 | Hereditary coproporphyria |
| SEQ2885 | Cystinuria |
| SEQ2891 | Citrullinemia |
| SEQ2892 | Classic citrullinemia |
| SEQ2893 | Late-onset citrullinemia type II |
| SEQ2871 | Cystinosis |
| SEQ2743 | Multiple Cavernomatosis |
| SEQ2751 | Ketoacidosis due to beta-ketothiolase deficiency |
| SEQ2633 | Bilateral striatum-pale-dentate calcinosis |
| SEQ2634 | Bilateral striatum-pale-dentate calcinosis |
| SEQ2641 | Calcinosis, tumor |
| SEQ2642 | Calcinosis, tumor |
| SEQ2631 | Bilateral striatum-pale-dentate calcinosis |
| SEQ2632 | Bilateral striatum-pale-dentate calcinosis |
| SEQ2295 | Beta-Cystathionine synthetase, mutation ile278Thr and Gly3076Ser CBS gene |
| SEQ2281 | NIMSeq® sg SC CDKN1C gene. Beckwith-Wiedemann syndrome |
| SEQ1811 | Argininemia (Arginase Deficiency) |
| SEQ1655 | Iron refractory iron deficiency anemia (IRIDA) |
| SEQ1481 | Allgrove syndrome |
| SEQ1415 | Oculocutaneous albinism type 2 |
| SEQ1387 | Congenital disorders of glycosylation |
| SEQ1382 | Metabolic myopathies and Rhabdomyolysis |
| SEQ1383 | Neuroacanthocytosis, Wilson's Disease, and Hemochromatosis |
| SEQ1384 | Porphyria |
| SEQ1385 | Fatty Acid Oxidation Syndrome |
| SEQ1386 | Tyrosinemia |
| SEQ1377 | Dystroglycanopathies |
| SEQ1378 | Maple syrup urine disease |
| SEQ1379 | Glycogen metabolism disorder diseases |
| SEQ1380 | Metabolism errors with hyperammonemia |
| SEQ1376 | Coenzyme Q10 deficiency |
| SEQ1302 | Fumaric aciduria |
| SEQ1311 | Hereditary orotic aciduria |
| SEQ1322 | Achondrogenesis type II |
| SEQ1325 | Changes in folate and homocysteine metabolism |
| SEQ1273 | Propionic acidemia |
| SEQ1281 | Dominant Distal Renal Tubular Acidosis |
| SEQ1282 | Dominant Distal Renal Tubular Acidosis |
| SEQ1283 | Recessive Distal Renal Tubular Acidosis |
| SEQ1291 | 2-hydroxyglutaric aciduria |
| SEQ1301 | Fumaric aciduria, mutation c1431_1433dupAAA FH gene |
| SEQ1260 | Methylmalonic acidemia - homocystinuria, type cbl C |
| SEQ1261 | Methylmalonic acidemia with homocystinuria, type cbl F |
| SEQ1263 | Methylmalonic acidemia, vitamin B12 sensitive, type cbl B |
| SEQ1267 | Mevalonic acidemia syndrome, porokeratosis 3, hyper-IgD syndrome |
| SEQ1271 | Propionic acidemia |
| SEQ1272 | Propionic acidemia |
| SEQ1253 | Methylmalonic acidemia |
| SEQ1254 | Methylmalonic acidemia |
| SEQ1255 | Methylmalonic acidemia |
| SEQ1256 | Methylmalonic acidemia |
| SEQ1257 | Methylmalonic acidemia |
| SEQ1259 | Methylmalonic acidemia - homocystinuria, type cbl C, mutation c.271dupA MMACHC gene |
| SEQ1233 | Glutaric acidemia type 3 |
| SEQ1234 | Glutaric acidemia type 4 |
| SEQ1235 | Glutaric acidemia type 5 |
| SEQ1241 | Isovaleric acidemia |
| SEQ1251 | Methylmalonic acidemia, mutation c.322C>T MUT |
| SEQ1252 | Methylmalonic acidemia |
| SEQ1211 | Abetalipoproteinemia |
| SEQ1225 | Greig Cefalopolisindactilia syndrome, Pallister-Hall syndrome, postaxial polydactyly types A and B and prefacial polydactyly type IV |
| SEQ1230 | Glutaric acidemia type 1, GCDH |
| SEQ1231 | Glutaric acidemia |
| SEQ1201 | Aarskog syndrome |
| SEQ1077 | Phenylketonuria |
| SEQ1071 | Familial Hypercholesterolemia |
| SEQ1021 | 6-Mercaptonuria (Thiopurine S-Methyltransferase Deficiency) |
| MLP3621 | Wilson disease |
| MLP3411 | Neurometabolic disorders |
| MLP3301 | Segawa disease |
| MLP3302 | Segawa disease / myoclonic dystonia 11 syndrome |
| MLP3001 | Pompe disease |
| MLP3021 | Porphyrias |
| MLP2751 | Niemann-Pick disease type C |
| MLP2821 | Osteoporosis-Pseudoglioma syndrome / Exudative vitreoretinopathy |
| MLP2731 | Neurodegeneration with brain iron accumulation |
| MLP2601 | Mucopolysaccharidosis type II or Hunter syndrome |
| MLP2531 | Mitochondrial DNA maintenance |
| MLP2341 | Krabbe disease |
| MLP2131 | X-linked hypophosphatemia |
| MLP2111 | Hyperlipoproteinemia type I |
| MLP1870 | Fabry disease |
| MLP1901 | Cystic fibrosis |
| MLP1811 | Glycine encephalopathy |
| MLP1645 | 1p36 deletion syndrome. |
| MLP1511 | Cowden disease |
| MLP1551 | CRI-DU-CHAT syndrome. |
| MLP1601 | Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency |
| MLP1611 | Fumarase deficiency |
| MLP1103 | MODY diabetes |
| MLP1105 | Neurometabolic diseases |
| MIT1301 | Leigh syndrome Mitochondrial Encephalopathy |
| MIT1302 | Common Mitochondrial Encephalopathy: Leigh , MELAS, MERRRF |
| MIT1303 | Mitochondrial Encephalopathy, other |
| MIT1304 | Mitochondrial Encephalopathy, MT-TL1 |
| MIT1305 | Mitochondrial encephalopathies, MT-TK |
| EXN5007 | Epilepsy associated with neurometabolic alterations |
| EXN1165 | Acidemia / Organic Aciduria and Cobalamin deficiency |
| EXN1166 | Alterations in the Metabolism of Purines and Pyrimidines |
| EXN1159 | Maple syrup urine disease |
| EXN1146 | Porphyria |
| EXN1129 | Congenital disorders of glycosylation |
| EXN1134 | Deficiency of sulfite oxidase, molybdenum cofactor and xanthine dehydrogenase |
| EXN1136 | Non-ketotic hyperglycemia - Glycine encephalopathy |
| EXN1125 | Alterations of folate and homocysteine metabolism |
| EXN1113 | Hypercalcaemia |
| EXN1118 | Lipodystrophies |
| EXN1100 | Disorders of glycogen metabolism |
| EXN1089 | Familial hypercholesterolemia |
| EXN1081 | Diabetes |
| EXN1071 | Errors of Metabolism with Hyperammonemia |
| EXN1073 | Neuroacanthocytosis, Wilson's disease and Hemochromatosis |
| EXN1066 | Dystroglycanopathies |
| EXN1058 | Lysosomal and Peroxisomal Diseases |
| EXN1010 | Mitochondrial disorders secondary to mutations in the nuclear DNA |
| SEQ references correspond to studies performed using NIMSeq® | |
| EXN references correspond to studies performed using ExoNIM® | |
To consult the genes associated with each approach and the complete catalog of services, go to our genetics test search tool
