Referência |
Doença |
|---|---|
| SEQ1116 | Smith-Lemli-Opitz syndrome |
| MLP1063 | Hirschsprung's disease |
| SEQ1101 | Hermansky-Pudlak syndrome |
| SEQ9703 | Emphysema secondary to AAT (alpha-1-antitrypsin) deficiency, S and Z variants SERPINA1 (PiS (Glu264Val): rs17580 and PiZ (Glu342Lys): rs28929474) |
| SEQ9681 | Wilson disease |
| SEQ9702 | Type 1 autoimmune polyneuropsty, syndrome |
| SEQ8960 | Rubinstein-Taybi syndrome |
| SEQ8453 | Pseudohypoaldosteronism type 1 |
| SEQ8451 | Pseudohypoaldosteronism type 1 |
| SEQ8371 | Porphyria variegata |
| SEQ8411 | Erythropoietic protoporphyria |
| SEQ8412 | Erythropoietic protoporphyria |
| SEQ8341 | Acute Intermittent Porphyria |
| SEQ8351 | Cutaneous Porphyria tardive |
| SEQ8361 | Congenital erythropoietic porphyria |
| SEQ8311 | Piebaldism |
| SEQ8251 | Perlman's syndrome |
| SEQ7862 | Hereditary Pancreatitis |
| SEQ7863 | Hereditary Pancreatitis |
| SEQ7864 | Hereditary Pancreatitis |
| SEQ7866 | Hereditary Pancreatitis |
| SEQ7861 | Hereditary Pancreatitis |
| SEQ7763 | Omenn syndrome |
| SEQ7764 | Omenn syndrome |
| SEQ7771 | Opitz syndrome |
| SEQ7781 | Opitz-Kaveggia syndrome |
| SEQ7762 | Omenn syndrome |
| SEQ7211 | Mowat-Wilson syndrome |
| SEQ7105 | Marshall-Smith syndrome |
| SEQ7125 | Meckel syndrome |
| SEQ6934 | Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 3 |
| SEQ6935 | Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 4 |
| SEQ6932 | Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 1 |
| SEQ6933 | Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 2 |
| SEQ6075 | Hypolactasia |
| SEQ6041 | Type 1 hyperlipoproteinemia |
| SEQ6042 | Type 1 hyperlipoproteinemia |
| SEQ5965 | Hemochromatosis |
| SEQ5926 | Hermansky-Pudlak syndrome |
| SEQ5927 | Hermansky-Pudlak syndrome |
| SEQ5928 | Hermansky-Pudlak syndrome |
| SEQ5929 | Hermansky-Pudlak syndrome |
| SEQ5930 | Hermansky-Pudlak syndrome |
| SEQ5921 | Hermansky-Pudlak syndrome type 2 |
| SEQ5922 | Hermansky-Pudlak syndrome |
| SEQ5924 | Hermansky-Pudlak syndrome |
| SEQ5925 | Hermansky-Pudlak syndrome |
| SEQ5743 | Chronic Granulomatous Disease |
| SEQ5681 | Gilbert syndrome |
| SEQ5691 | Gitelman syndrome |
| SEQ5695 | Gitelman syndrome |
| SEQ5641 | Galactosemia |
| SEQ5661 | GM1 gangliosidosis type 1 |
| SEQ5521 | Fanconi-Bickel syndrome |
| SEQ5531 | Feingold syndrome |
| SEQ5405 | Cystic Fibrosis and Differential Diagnosis |
| SEQ5411 | Familial Hibernian Fever (Periodic fever, autosomal dominant) |
| SEQ5421 | Familial Mediterranean Fever |
| SEQ5425 | Familial Mediterranean Fever |
| SEQ5431 | Fructosemia |
| SEQ5400 | Cystic Fibrosis, 50 most frequent CFTR gene mutations |
| SEQ5401 | Cystic fibrosis |
| SEQ5402 | Cystic fibrosis |
| SEQ5051 | Neutral lipid accumulation disease with myopathy without ichthyosis |
| SEQ4971 | Ethylmalonic encephalopathy |
| SEQ4951 | Encephalopathy due to a deficiency of prosaposin |
| SEQ4921 | Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) |
| SEQ4922 | Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) |
| SEQ4923 | Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) |
| SEQ4621 | Dubin-Johnson syndrome |
| SEQ4161 | Immune Dysfunction - Poliendocrinopathy - X-Linked Enteropathy |
| SEQ4081 | Congenital diarrhea with malabsorption due to insufficiency of enteroendocrine cells |
| SEQ4091 | Congenital Diarrhea with Chlorine Loss |
| SEQ4101 | Familial congenital intractable diarrhea with epithelial abnormalities |
| SEQ4021 | Brain demyelination due to methionine adenosyltransferase deficiency |
| SEQ3951 | Partial methylmalonyl-CoA mutase deficiency, mutation c.322C> T gene MUT |
| SEQ3811 | Pyruvate carboxylase deficiency |
| SEQ3751 | Galactose epimerase deficiency |
| SEQ3683 | Carnitine palmitoyltransferase II deficiency |
| SEQ3691 | CoA-dehydrogenase deficiency (Acidemi isobutyric) |
| SEQ3701 | Pancreatic colipase deficiency |
| SEQ3711 | Bifunctional enzyme deficiency |
| SEQ3721 | Phosphoenolpyruvate Carboxykinase Deficiency |
| SEQ3680 | Carnitine palmitoyltransferase deficiency |
| SEQ3681 | Carnitine palmitoyltransferase deficiency |
| SEQ3607 | Congenital enterokinase deficiency |
| SEQ3511 | ACYL-CoA dehydrogenase deficiency |
| SEQ3412 | Congenital lactase deficiency |
| SEQ3431 | AMACR deficiency |
| SEQ3441 | Apolipoprotein A4 deficiency |
| SEQ3451 | Apolipoprotein C-II deficiency |
| SEQ3471 | Corticosterone Methyloxidase Deficiency Type I |
| SEQ3391 | Congenital sucrase-isomaltase deficiency |
| SEQ3401 | Congenital deficiency of sacarase-isomaltase |
| SEQ3411 | Congenital lactase deficiency, c.4170T>A (p.Tyr1390Ter) LCT gene |
| SEQ3123 | Crigler-Najjar syndrome |
| SEQ3081 | Costello syndrome |
| SEQ3031 | Hereditary coproporphyria |
| SEQ2951 | Colestasis intrahepática familiar progresiva |
| SEQ2952 | Progressive familial intrahepatic cholestasis 1 |
| SEQ2953 | Progressive familial intrahepatic cholestasis 3 |
| SEQ2954 | Benign recurrent intrahepatic cholestasis |
| SEQ2371 | BNAR syndrome |
| SEQ2281 | NIMSeq® sg SC CDKN1C gene. Beckwith-Wiedemann syndrome |
| SEQ1831 | Pyogenic arthritis, pyoderma gangrenosum, acne |
| SEQ1772 | Anttley-Bixler-like syndrome, ambiguous genitalia, impaired steroidogenesis |
| SEQ1781 | Apert syndrome, p.Ser252Trp and p.Pro253Arg mutations by FGFR2 gene sequencing |
| SEQ1712 | Hereditary Angioedema |
| SEQ1711 | Hereditary Angioedema |
| SEQ1515 | Alport syndrome (X-linked) |
| SEQ1471 | Alpha-Thalassemia |
| SEQ1441 | Alexander disease |
| SEQ1400 | Alagille Syndrome Type 1 |
| SEQ1402 | Alagille Syndrome Types 1 and 2 |
| SEQ1392 | Hereditary angioedema |
| SEQ1386 | Tyrosinemia |
| SEQ1379 | Glycogen metabolism disorder diseases |
| SEQ1380 | Metabolism errors with hyperammonemia |
| SEQ1381 | X-linked agammaglobulinemia |
| SEQ1374 | Gastrointestinal atresia |
| SEQ1291 | 2-hydroxyglutaric aciduria |
| SEQ1301 | Fumaric aciduria, mutation c1431_1433dupAAA FH gene |
| SEQ1261 | Methylmalonic acidemia with homocystinuria, type cbl F |
| SEQ1263 | Methylmalonic acidemia, vitamin B12 sensitive, type cbl B |
| SEQ1255 | Methylmalonic acidemia |
| SEQ1256 | Methylmalonic acidemia |
| SEQ1257 | Methylmalonic acidemia |
| SEQ1259 | Methylmalonic acidemia - homocystinuria, type cbl C, mutation c.271dupA MMACHC gene |
| SEQ1260 | Methylmalonic acidemia - homocystinuria, type cbl C |
| SEQ1241 | Isovaleric acidemia |
| SEQ1252 | Methylmalonic acidemia |
| SEQ1253 | Methylmalonic acidemia |
| SEQ1254 | Methylmalonic acidemia |
| SEQ1235 | Glutaric acidemia type 5 |
| MLP3621 | Wilson disease |
| MLP3315 | Smith-Lemli-Opitz, syndrome of |
| MLP3101 | Resistance to insulin-like growth factor I |
| MLP3021 | Porphyrias |
| MLP2801 | Opitz syndrome |
| MLP2250 | Hereditary fructose intolerance |
| MLP2111 | Hyperlipoproteinemia type I |
| MLP2141 | Hirschsprung disease |
| MLP1950 | Mediterranean fever family |
| MLP1980 | MLPA:Gitelman syndrome |
| MLP2020 | Chronic granulomatous disease |
| MLP1901 | Cystic fibrosis |
| MLP1651 | Mitochondrial DNA depletion Syndrome |
| MLP1551 | CRI-DU-CHAT syndrome. |
| MLP1461 | Cystinuria |
| MLP1411 | Colorectal cancer |
| MLP1011 | Alagille syndrome type 1 |
| MLP1005 | X-linked Agammaglobulinemia |
| EXN1167 | Lymphatic Malformations and Related Diseases |
| EXN1128 | Inflammatory bowel disease |
| EXN1116 | Meckel syndrome |
| EXN1110 | Hermansky‐Pudlak syndrome |
| EXN1104 | Intrahepatic cholestasis |
| EXN1100 | Disorders of glycogen metabolism |
| EXN1080 | Congenital diarrhea or early-onset chronic diarrhea |
| EXN1071 | Errors of Metabolism with Hyperammonemia |
| EXN1059 | Amyloidosis |
| EXN1046 | Hirschsprung's disease |
| EXN1042 | Chronic pancreatitis |
| EXN1017 | Trichohepatoenteric syndrome |
| As referências SEQ correspondem a estudos realizados utilizando o NIMSeq® | |
| As referências EXN correspondem a estudos realizados com ExoNIM® | |
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