Reference |
Disease |
|---|---|
| SEQ1101 | Hermansky-Pudlak syndrome |
| SEQ9702 | Type 1 autoimmune polyneuropsty, syndrome |
| SEQ8335 | Polyarteritis nodosa / Sneddon syndrome |
| SEQ7762 | Omenn syndrome |
| SEQ7763 | Omenn syndrome |
| SEQ7764 | Omenn syndrome |
| SEQ7511 | Nijmegen syndrome |
| SEQ7512 | Nijmegen syndrome |
| SEQ7221 | Muckle-Wells syndrome |
| SEQ6936 | Acquired partial lipodystrophy (Barraquer-Simons syndrome) |
| SEQ5982 | Hyper IgE |
| 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 |
| SEQ5411 | Familial Hibernian Fever (Periodic fever, autosomal dominant) |
| SEQ5421 | Familial Mediterranean Fever |
| SEQ5425 | Familial Mediterranean Fever |
| SEQ5082 | Epidermodysplasia verruciformis |
| SEQ5083 | Epidermodysplasia verruciformis |
| SEQ4931 | Acute familial necrotizing encephalopathy |
| SEQ4304 | Spondylometaphyseal dysplasia with combined immunodeficiency |
| SEQ4161 | Immune Dysfunction - Poliendocrinopathy - X-Linked Enteropathy |
| SEQ4181 | Reticular dysgenesis |
| SEQ3831 | Properdin deficiency |
| SEQ3651 | Type 1 leukocyte adhesion deficit |
| SEQ3561 | Interleukin 1 receptor antagonist deficiency |
| SEQ3531 | Purine nucleoside phosphorylase deficiency |
| SEQ3363 | Congenital Glycosylation Defect type 1C |
| SEQ3361 | Congenital Glycosylation Defect type 1A |
| SEQ3362 | Congenital Glycosylation Defect type 1B |
| SEQ2831 | Chediak-Higashi syndrome |
| SEQ2651 | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| SEQ2361 | Bloom syndrome |
| SEQ2381 | Branchial-oculo-facial syndrome |
| SEQ2341 | Blau syndrome |
| SEQ2011 | Kidney, interstitial, lung and joint autoimmune disease |
| SEQ2015 | Familial autoinflammatory type Behcer-likem syndrome |
| SEQ1951 | Ataxia Telangiectasia |
| SEQ1961 | Ataxia Telangiectasia like |
| SEQ1633 | Fanconi anemia |
| SEQ1634 | Fanconi anemia |
| SEQ1628 | Fanconi anemia |
| SEQ1629 | Fanconi anemia |
| SEQ1630 | Fanconi anemia |
| SEQ1631 | Fanconi anemia |
| SEQ1632 | Fanconi anemia |
| SEQ1622 | Fanconi anemia |
| SEQ1624 | Fanconi anemia |
| SEQ1625 | Fanconi anemia |
| SEQ1626 | Fanconi anemia |
| SEQ1627 | Fanconi anemia |
| SEQ1621 | Fanconi anemia |
| SEQ1451 | Alpha-1-Antitrypsin, deficiency |
| SEQ1381 | X-linked agammaglobulinemia |
| SEQ1263 | Methylmalonic acidemia, vitamin B12 sensitive, type cbl B |
| MLP2151 | Hyper-IgE syndrome |
| MLP2020 | Chronic granulomatous disease |
| MLP1950 | Mediterranean fever family |
| MLP1651 | Mitochondrial DNA depletion Syndrome |
| MLP1091 | Ataxia-Telangiectasia |
| MLP1005 | X-linked Agammaglobulinemia |
| EXN1167 | Lymphatic Malformations and Related Diseases |
| EXN1115 | Autoinflammatory syndromes |
| EXN1110 | Hermansky‐Pudlak syndrome |
| EXN1075 | Recurrent fever |
| EXN1063 | Ectodermal dysplasias |
| EXN1047 | Hyperimmunoglobulin E syndrome |
| EXN1017 | Trichohepatoenteric syndrome |
| 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
