Inicio » tabla-genes » Cartera de servicios digestive

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

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®

PESQUISADOR DE ESTUDOS GENÉTICOS

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

Ir al motor de pesquisa