Referência |
Doença |
|---|---|
| SEQ1116 | Smith-Lemli-Opitz syndrome |
| EXN1181 | Diaphragmatic hernia |
| SEQ1097 | Joubert syndrome |
| 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) |
| SEQ8331 | Pitt-Hopkins syndrome |
| SEQ8281 | Peutz-Jeghers syndrome |
| SEQ7771 | Opitz syndrome |
| SEQ7511 | Nijmegen syndrome |
| SEQ7512 | Nijmegen syndrome |
| SEQ7104 | Marfan syndrome |
| SEQ7105 | Marshall-Smith syndrome |
| SEQ7102 | Marfan syndrome |
| SEQ6508 | Joubert syndrome type 8 |
| SEQ6509 | Joubert syndrome type 9 |
| SEQ6303 | Joubert syndrome type 1 |
| SEQ6502 | Joubert syndrome type 2 |
| SEQ6504 | Joubert syndrome type 4 |
| SEQ6505 | Joubert syndrome type 5 |
| SEQ6506 | Joubert syndrome type 6 |
| SEQ6301 | Joubert syndrome type 10 |
| SEQ6302 | Joubert Syndrome Type 12 |
| SEQ5981 | Hydroletal Syndrome |
| SEQ5982 | Hyper IgE |
| 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 |
| SEQ5741 | Gorlin syndrome |
| SEQ5742 | Gorlin syndrome |
| SEQ5743 | Chronic Granulomatous Disease |
| SEQ5671 | GAPO syndrome |
| SEQ5405 | Cystic Fibrosis and Differential Diagnosis |
| SEQ5400 | Cystic Fibrosis, 50 most frequent CFTR gene mutations |
| SEQ5401 | Cystic fibrosis |
| SEQ5402 | Cystic fibrosis |
| SEQ5265 | Tuberous sclerosis |
| SEQ5266 | Tuberous sclerosis |
| SEQ5267 | Tuberous sclerosis |
| SEQ5071 | Pulmonary veno-occlusive disease |
| SEQ5072 | Pulmonary veno-occlusive disease |
| SEQ4851 | Ectrodactyly, Ectodermal Dysplasia and Palatal Cleft Syndrome type 3 (EEC Type 3) |
| SEQ4021 | Brain demyelination due to methionine adenosyltransferase deficiency |
| SEQ3872 | Pulmonary surfactant deficiency |
| SEQ3873 | Pulmonary surfactant deficiency |
| SEQ3875 | Pulmonary surfactant deficiency |
| SEQ3876 | Pulmonary surfactant deficiency |
| SEQ3841 | Mitochondrial trifunctional protein deficiency |
| SEQ3731 | Fructose-1,6 diphosphatase deficiency |
| SEQ3081 | Costello syndrome |
| SEQ2841 | CHILD syndrome |
| SEQ2361 | Bloom syndrome |
| SEQ2311 | Síndrome de Birt-Hogg-Dube, mutaciones c.1285delC y c.1285dupC gen FLCN Birt-Hogg-Dube syndrome, c.1285delC and c.1285dupC mutations FLCN gene |
| SEQ2312 | Birt-Hogg-Dube syndrome |
| SEQ2011 | Kidney, interstitial, lung and joint autoimmune disease |
| SEQ1973 | Spinal muscular atrophy with respiratory failure |
| SEQ1771 | Antley-Bixler syndrome |
| SEQ1781 | Apert syndrome, p.Ser252Trp and p.Pro253Arg mutations by FGFR2 gene sequencing |
| SEQ1441 | Alexander disease |
| SEQ1381 | X-linked agammaglobulinemia |
| SEQ1291 | 2-hydroxyglutaric aciduria |
| SEQ1301 | Fumaric aciduria, mutation c1431_1433dupAAA FH gene |
| SEQ1261 | Methylmalonic acidemia with homocystinuria, type cbl F |
| SEQ1255 | Methylmalonic acidemia |
| SEQ1256 | Methylmalonic acidemia |
| SEQ1252 | Methylmalonic acidemia |
| SEQ1253 | Methylmalonic acidemia |
| SEQ1254 | Methylmalonic acidemia |
| SEQ1072 | DICER1 Syndrome |
| SEQ1074 | Glow Syndrome (Tissue Mosaicism) |
| SEQ1038 | Congenital Central Hypoventilation Syndrome |
| MLP3401 | Hereditary hemorrhagic telangiectasia, Primary pulmonary hypertension |
| MLP3315 | Smith-Lemli-Opitz, syndrome of |
| MLP2961 | Peutz-Jeghers syndrome |
| MLP2801 | Opitz syndrome |
| MLP2541 | Marfan syndrome |
| MLP2542 | Marfan syndrome |
| MLP2151 | Hyper-IgE syndrome |
| MLP2001 | Gorlin syndrome |
| MLP2020 | Chronic granulomatous disease |
| MLP1831 | Tuberous sclerosis 1 |
| MLP1832 | Tuberous sclerosis 2 |
| MLP1901 | Cystic fibrosis |
| MLP1551 | CRI-DU-CHAT syndrome. |
| MLP1231 | Birt-Hogg-Dube syndrome |
| MLP1005 | X-linked Agammaglobulinemia |
| EXN1167 | Lymphatic Malformations and Related Diseases |
| EXN1110 | Hermansky‐Pudlak syndrome |
| EXN1111 | Pulmonary hypertension |
| EXN1105 | Congenital central hypoventilation syndrome |
| EXN1047 | Hyperimmunoglobulin E syndrome |
| As referências SEQ correspondem a estudos realizados utilizando o NIMSeq® | |
| As referências EXN correspondem a estudos realizados com ExoNIM® | |
Para a consulta dos genes associados a cada abordagem e do catálogo completo de serviços, dirija-se ao nosso motor de busca de estudos genéticos
