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CONSULTE AQUI A NOSSA CARTEIRA DE SERVIÇOS DE NGS, PARA O DIAGNÓSTICO GENÉTICO EM Imunologia

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SEQ1101 Hermansky-Pudlak syndrome
SEQ9702 Type 1 autoimmune polyneuropsty, syndrome
SEQ8335 Polyarteritis nodosa / Sneddon syndrome
SEQ7763 Omenn syndrome
SEQ7764 Omenn syndrome
SEQ7762 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
SEQ3531 Purine nucleoside phosphorylase deficiency
SEQ3561 Interleukin 1 receptor antagonist deficiency
SEQ3362 Congenital Glycosylation Defect type 1B
SEQ3363 Congenital Glycosylation Defect type 1C
SEQ3361 Congenital Glycosylation Defect type 1A
SEQ2831 Chediak-Higashi syndrome
SEQ2651 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
SEQ2341 Blau syndrome
SEQ2361 Bloom syndrome
SEQ2381 Branchial-oculo-facial syndrome
SEQ2011 Kidney, interstitial, lung and joint autoimmune disease
SEQ2015 Familial autoinflammatory type Behcer-likem syndrome
SEQ1951 Ataxia Telangiectasia
SEQ1961 Ataxia Telangiectasia like
SEQ1632 Fanconi anemia
SEQ1633 Fanconi anemia
SEQ1634 Fanconi anemia
SEQ1627 Fanconi anemia
SEQ1628 Fanconi anemia
SEQ1629 Fanconi anemia
SEQ1630 Fanconi anemia
SEQ1631 Fanconi anemia
SEQ1621 Fanconi anemia
SEQ1622 Fanconi anemia
SEQ1624 Fanconi anemia
SEQ1625 Fanconi anemia
SEQ1626 Fanconi anemia
SEQ1451 Alpha-1-Antitrypsin, deficiency
SEQ1381 X-linked agammaglobulinemia
SEQ1263 Methylmalonic acidemia, vitamin B12 sensitive, type cbl B
MLP2151 Hyper-IgE syndrome
MLP1950 Mediterranean fever family
MLP2020 Chronic granulomatous disease
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
As referências SEQ correspondem a estudos realizados utilizando o NIMSeq®
As referências EXN correspondem a estudos realizados com ExoNIM®

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