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

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SEQ1116 Smith-Lemli-Opitz syndrome
MLP1025 Sotos syndrome
EXN1181 Diaphragmatic hernia
TRP1501 Fragile X syndrome
SEQ1103 Anophthalmia and microphthalmia and anterior segment dysgenesis
SEQ1104 Congenital Cataracts
SEQ1100 Stickler syndrome
SEQ1101 Hermansky-Pudlak syndrome
SEQ9317 Thrombophilia
SEQ9651 Waardenburg syndrome, syndrome
SEQ9655 Weaver syndrome
SEQ9302 Hereditary hemorrhagic telangectasia type 2
SEQ9020 Smith-Kingsmore syndrome / Focal cortical dysplasia, type II
SEQ9051 Sotos syndrome
SEQ8951 Rubinstein-Taybi syndrome
SEQ8960 Rubinstein-Taybi syndrome
SEQ8971 Schaaf-Yang syndrome
SEQ8001 Sick sinus syndrome
SEQ8920 Juvenile retinoschisis
SEQ8921 Rett syndrome
SEQ8923 Hypophosphatemic rickets, X-linked
SEQ8925 Vitamin D-dependent rickets
SEQ8930 Robinow syndrome
SEQ8910 Retinoblastoma (hotspots)
SEQ8915 Caudal regression, syndrome
SEQ8491 Pterygium Syndrome (Lethal Forms)
SEQ8492 Pterygium Syndrome (Lethal Forms)
SEQ8493 Pterygium Syndrome (Lethal Forms)
SEQ8461 Pseudohypoparathyroidism
SEQ8421 Prune Belly Syndrome
SEQ8431 Pseudoachondroplasia
SEQ8401 Proteus syndrome
SEQ8415 Preauricular bulge
SEQ8331 Pitt-Hopkins syndrome
SEQ8291 Pycnodysostosis
SEQ8301 Clubfoot due to PITX1 point mutation
SEQ8311 Piebaldism
SEQ8232 Pelizaeus disease - Merzbacher
SEQ8251 Perlman's syndrome
SEQ8261 Peters, anomaly
SEQ8262 Peters, anomaly
SEQ8271 Peters-plus syndrome
SEQ8222 Parrault syndrome
SEQ7841 Cervical facial syndrome
SEQ7851 Oto-palato-digital syndrome type 2
SEQ7798 Osteogenesis imperfecta, Type IX
SEQ7799 Osteogenesis imperfecta, type XI
SEQ7792 Imperfect osteogenesis
SEQ7793 Imperfect osteogenesis
SEQ7795 Osteogenesis Imperfecta type IIB
SEQ7796 Osteogenesis Imperfecta type VIII
SEQ7797 Osteogenesis Imperfecta type VIII
SEQ7763 Omenn syndrome
SEQ7764 Omenn syndrome
SEQ7771 Opitz syndrome
SEQ7781 Opitz-Kaveggia syndrome
SEQ7791 Imperfect osteogenesis
SEQ7751 Ohdo syndrome type SBBYS
SEQ7762 Omenn syndrome
SEQ7537 Noonan syndrome
SEQ7541 Noonan-like syndrome with deciduous anagen hair
SEQ7542 Noonan-like syndrome with or without juvenile myelomonocytic leukemia
SEQ7532 Noonan syndrome
SEQ7533 Noonan syndrome
SEQ7534 Noonan syndrome
SEQ7535 Noonan syndrome
SEQ7536 Noonan syndrome
SEQ7511 Nijmegen syndrome
SEQ7512 Nijmegen syndrome
SEQ7531 Rasopathies (Noonan Syndrome included)
SEQ7491 Neuropathy, giant axonal
SEQ7501 Niemann-Pick disease
SEQ7502 Niemann-Pick disease (Type A and B)
SEQ7503 Niemann-Pick disease (type C1 and D)
SEQ7504 Niemann-Pick disease (type C2)
SEQ7505 Niemann-Pick disease (types C and D)
SEQ7249 Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)
SEQ7401 Nail Patella Syndrome
SEQ7411 Nasu-Hakola disease
SEQ7412 Nasu-Hakola disease
SEQ7413 Nasu-Hakola disease / Polycystic lipomembranous osteodysplasia with sclerotic leukoencephalopathy
SEQ7243 Mucopolysaccharidosis Type II (Hunter Syndrome)
SEQ7245 Mucopolysaccharidosis Type IIIC (Sanfilippo B Syndrome)
SEQ7246 Mucopolysaccharidosis Type IIIC (Sanfilippo C Syndrome)
SEQ7247 Mucopolysaccharidosis Type IIID
SEQ7248 Mucopolysaccharidosis Type IV B
SEQ7241 Mucopolysaccharidosis
SEQ7242 Mucopolysaccharidosis Type 1H, 1S (Hurler Syndrome)
SEQ7211 Mowat-Wilson syndrome
SEQ7221 Muckle-Wells syndrome
SEQ7131 Congenital myasthenia
SEQ7132 Congenital myasthenia
SEQ7138 Primary microcephaly
SEQ7104 Marfan syndrome
SEQ7105 Marshall-Smith syndrome
SEQ7111 McCune-Albright syndrome
SEQ7121 MENKES syndrome
SEQ7125 Meckel syndrome
SEQ6985 Lissencephaly
SEQ6991 Loeys-Dietz syndrome
SEQ6993 Loeys-Dietz syndrome
SEQ6994 Glomuvenous malformations
SEQ7102 Marfan syndrome
SEQ6959 Neuronal ceroid lipofuscinosis
SEQ6960 Neuronal ceroid lipofuscinosis
SEQ6971 Lissencephaly
SEQ6972 Lissencephaly
SEQ6982 X-linked lissencephaly
SEQ6954 Neuronal ceroid lipofuscinosis
SEQ6955 Neuronal ceroid lipofuscinosis
SEQ6956 Neuronal ceroid lipofuscinosis
SEQ6957 Neuronal ceroid lipofuscinosis
SEQ6958 Neuronal ceroid lipofuscinosis
SEQ6952 Neuronal ceroid lipofuscinosis
SEQ6953 Neuronal ceroid lipofuscinosis
SEQ6842 sg Leopard syndrome
SEQ6811 Laron's syndrome
SEQ6821 Larsen syndrome
SEQ6841 Leopard syndrome
SEQ6612 Kallman syndrome type II
SEQ6613 Kallman syndrome type II
SEQ6615 Klippel-Feil syndrome
SEQ6621 Krabbe disease
SEQ6601 Kabuki syndrome
SEQ6602 Kabuki syndrome
SEQ6606 Kabuki syndrome
SEQ6611 Kallman syndrome type I
SEQ6295 Osteogenesis imperfecta type V
SEQ6174 Harlequin fetus congenital ichthyosis
SEQ6162 Autosomal Recessive Congenital Ichthyosis
SEQ6163 Autosomal Recessive Congenital Ichthyosis
SEQ6164 Autosomal Recessive Congenital Ichthyosis
SEQ6165 Autosomal Recessive Congenital Ichthyosis
SEQ6166 Autosomal Recessive Congenital Ichthyosis
SEQ6167 Autosomal Recessive Congenital Ichthyosis
SEQ6132 Homocystinuria due to cystathionine beta-synthase deficiency
SEQ6151 Hutchinson-Gilford Progeria
SEQ6161 Autosomal Recessive Congenital Ichthyosis
SEQ6110 Holoprosencephaly
SEQ6111 Holoprosencephaly
SEQ6113 Holoprosencephaly
SEQ6114 Holoprosencephaly
SEQ6115 Holoprosencephaly
SEQ6121 Holt-Oram syndrome
SEQ6131 Homocystinuria due to cystathionine beta-synthase deficiency
SEQ6103 Holoprosencephaly
SEQ6104 Holoprosencephaly
SEQ6105 Holoprosencephaly
SEQ6106 Holoprosencephaly
SEQ6108 Holoprosencephaly
SEQ6081 Hypophosphatasia
SEQ6091 Dominant hypophosphatemia with nephrolithiasis or osteoporosis
SEQ6095 Focal dermal hypoplasia
SEQ6101 Holoprosencephaly
SEQ6102 Holoprosencephaly
SEQ6072 Hypochondroplasia
SEQ6074 Hypochondroplasia, c.1138G> A / C and c.1620C> A / G FGFR3 gene mutation
SEQ6078 Hypophosphatasia
SEQ6051 Type II hyperprolinemia
SEQ6071 Hypochondroplasia
SEQ6045 Hyperhomocysteinemia
SEQ6012 Hyperekplexia syndrome or Exaggerated Startle syndrome
SEQ6013 Hyperekplexia syndrome or Exaggerated Startle syndrome
SEQ6022 Hyperphenylalaninemia due to BH4 deficiency
SEQ6029 Hyperhomocysteinemia
SEQ5981 Hydroletal Syndrome
SEQ6011 Hyperekplexia syndrome or Exaggerated Startle syndrome
SEQ5951 Periventricular nodular heterotopia
SEQ5961 X-linked periventricular heterotopia
SEQ5968 Hydranencephaly / Microlissencephaly
SEQ5971 X-linked hydrocephalus
SEQ5941 Heterotaxy
SEQ5943 Heterotaxy
SEQ5944 Heterotaxy
SEQ5945 Heterotaxy
SEQ5948 Heterotaxia and situs inversus
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
SEQ5751 Griscelli syndrome type 1
SEQ5911 Alternating hemiplegia of childhood TYPE 1
SEQ5912 Alternating hemiplegia of childhood TYPE 2
SEQ5741 Gorlin syndrome
SEQ5742 Gorlin syndrome
SEQ5671 GAPO syndrome
SEQ5641 Galactosemia
SEQ5651 Galactosialidosis
SEQ5661 GM1 gangliosidosis type 1
SEQ5561 Fibrodysplasia ossificans progressiva
SEQ5511 Factor V (Leiden)
SEQ5521 Fanconi-Bickel syndrome
SEQ5531 Feingold syndrome
SEQ5551 Fibrodysplasia ossificans progressiva
SEQ5427 Floating-Harbor syndrome
SEQ5431 Fructosemia
SEQ5291 Multiple Exostoses
SEQ5292 Multiple Exostoses
SEQ5281 Sclerosteosis
SEQ5201 Familial Benign Neonatal Epilepsy
SEQ5202 Familial Benign Neonatal Epilepsy
SEQ5171 Lateral temporal lobe epilepsy, autosomal dominant
SEQ5181 Juvenile myoclonic epilepsy
SEQ5182 Juvenile myoclonic epilepsy
SEQ5191 Progressive myoclonic epilepsy type 3
SEQ5154 Autosomal Dominant Nocturnal Frontal Epilepsy
SEQ5155 Autosomal Dominant Nocturnal Frontal Epilepsy
SEQ5161 Generalized Epilepsy with Febrile Seizures Plus (GEFS)
SEQ5162 Generalized Epilepsy with Febrile Seizures Plus (GEFS)
SEQ5164 Generalized Epilepsy with Febrile Seizures Plus (GEFS)
SEQ5141 Familial focal epilepsy with variable foci
SEQ5151 Autosomal Dominant Nocturnal Frontal Epilepsy
SEQ5152 Autosomal Dominant Nocturnal Frontal Epilepsy
SEQ5153 Autosomal Dominant Nocturnal Frontal Epilepsy
SEQ5121 Simple Epidermolysis Bullosa with Muscular Dystrophy
SEQ5131 Pyridoxine Dependent Epilepsy
SEQ5132 Pyridoxine Dependent Epilepsy
SEQ5139 Focal epilepsy with language disorder
SEQ5093 Dystrophic Epidermolysis Bullosa
SEQ5041 Muscle-eye-brain disease
SEQ4983 Glycine encephalopathy / Nonketotic hyperglycemia
SEQ4984 Glycine encephalopathy / Nonketotic hyperglycemia
SEQ4981 Glycine encephalopathy / Nonketotic hyperglycemia
SEQ4982 Glycine encephalopathy / Nonketotic hyperglycemia
SEQ4946 Evanescent White Substance Encephalopathy
SEQ4941 Evanescent White Substance Encephalopathy, p.Arg113His mutation by EIF2B5 gene sequencing
SEQ4942 Evanescent White Substance Encephalopathy
SEQ4943 Evanescent White Substance Encephalopathy
SEQ4944 Evanescent White Substance Encephalopathy
SEQ4945 Evanescent White Substance Encephalopathy
SEQ4901 Type 2 primordial osteodysplastic microcephalic dwarfism
SEQ4911 Childhood epileptic encephalopathy type 5
SEQ4913 Early-onset childhood epileptic encephalopathy
SEQ4851 Ectrodactyly, Ectodermal Dysplasia and Palatal Cleft Syndrome type 3 (EEC Type 3)
SEQ4598 Donnai-Barrow syndrome
SEQ4601 Dravet syndrome (Severe myoclonic epilepsy of childhood)
SEQ4611 Radial ray Duane syndrome
SEQ4631 Dyggve-Melchior-Clausen syndrome
SEQ4591 Asphyxiating Thoracic Dystrophy of the Newborn (Jeune Syndrome)
SEQ4592 Asphyxiating Thoracic Dystrophy of the Newborn (Jeune Syndrome)
SEQ4593 Asphyxiating Thoracic Dystrophy of the Newborn (Jeune Syndrome)
SEQ4594 Asphyxiating Thoracic Dystrophy of the Newborn (Jeune Syndrome)
SEQ4571 Rod-cone retinal dystrophy
SEQ4343 Congenital dyskeratosis
SEQ4344 Congenital dyskeratosis
SEQ4345 Congenital dyskeratosis
SEQ4346 Congenital dyskeratosis
SEQ4347 Congenital dyskeratosis
SEQ4348 Congenital dyskeratosis
SEQ4327 Septo-optic dysplasia
SEQ4329 Septo-optic dysplasia
SEQ4331 Thanatophoric dysplasia type I and type II
SEQ4341 Congenital dyskeratosis
SEQ4342 Congenital dyskeratosis
SEQ4305 Spondyloepiphyseal dysplasia type Kimberley / Spondylometaphyseal dysplasia type Aggrecan / Familial osteochondritis dissecante
SEQ4307 Spondylometaphyseal dysplasia
SEQ4312 Frontonasal Dysplasia Type 2
SEQ4313 Frontonasal Dysplasia Type 3
SEQ4321 Geleophysical dysplasia
SEQ4293 Multiple Epiphyseal Dysplasia type 1
SEQ4294 Multiple Epiphyseal Dysplasia type 4
SEQ4301 Congenital Spondyloepiphyseal Dysplasia
SEQ4302 X-Linked Spondyloepiphyseal Dysplasia
SEQ4304 Spondylometaphyseal dysplasia with combined immunodeficiency
SEQ4285 Silverman Handmaker Dissegmental Dysplasia / Schwart-Jampel Syndrome
SEQ4291 Multiple Epiphyseal Dysplasia type 1
SEQ4292 Multiple Epiphyseal Dysplasia type 1
SEQ4222 Campomelica Dysplasia
SEQ4251 Craniofrontonasal Dysplasia
SEQ4261 Diastrophic Dysplasia
SEQ4201 Postaxial acrofacial dysostosis-Miller syndrome
SEQ4211 Autosomal dominant spondylocostal dysostosis
SEQ4221 Mandibulofacial dysostosis
SEQ4172 Gonadal Dysgenesis (XY female) (Swyer's Syndrome)
SEQ4173 Gonadal Dysgenesis (XY female) (Swyer's Syndrome)
SEQ4141 Leri-Weill dyschondrosteosis (LWD)
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
SEQ4111 Ovarian digenesis
SEQ4112 Ovarian digenesis
SEQ4051 Neurohypophyseal diabetes insipidus
SEQ4061 Permanent neonatal diabetes mellitus
SEQ4062 Transient neonatal diabetes mellitus
SEQ4063 Transient neonatal diabetes mellitus
SEQ4064 Transient neonatal diabetes mellitus
SEQ4015 Acral skin scaling, syndrome
SEQ3993 Dent disease
SEQ4007 Mitochondrial DNA depletion
SEQ4011 Desbuquois syndrome
SEQ3911 Familial LCAT (lecithin-cholesterol-acyl-transferase) deficiency
SEQ3921 Autosomal dominant nonsyndromic intellectual deficit
SEQ3931 Severe intellectual deficit and progressive spastic paraplegia
SEQ3941 X-linked intellectual deficit - cerebellar hypoplasia
SEQ3951 Partial methylmalonyl-CoA mutase deficiency, mutation c.322C> T gene MUT
SEQ3872 Pulmonary surfactant deficiency
SEQ3873 Pulmonary surfactant deficiency
SEQ3875 Pulmonary surfactant deficiency
SEQ3876 Pulmonary surfactant deficiency
SEQ3881 Zinc deficiency, infantile, transitory
SEQ3841 Mitochondrial trifunctional protein deficiency
SEQ3851 Succinic semialdehyde dehydrogenase deficiency
SEQ3861 Succinyl-CoA acetoacetate transferase deficiency
SEQ3781 Creatinine deficiency
SEQ3683 Carnitine palmitoyltransferase II deficiency
SEQ3711 Bifunctional enzyme deficiency
SEQ3721 Phosphoenolpyruvate Carboxykinase Deficiency
SEQ3641 Short chain acyl-CoA dehydrogenase deficiency
SEQ3680 Carnitine palmitoyltransferase deficiency
SEQ3681 Carnitine palmitoyltransferase deficiency
SEQ3611 Congenital protein C deficiency
SEQ3621 Long-chain fatty acid 3-hydroxyacyl-CoA dehydrogenase deficiency, mutation p.Glu510Gln HADHA gene
SEQ3622 Long-chain fatty acid 3-hydroxyacyl-CoA dehydrogenase deficiency
SEQ3631 Very long chain fatty acid acyl-CoA dehydrogenase deficiency
SEQ3581 Glucose transporter type 1 deficiency
SEQ3591 Isolated type IB growth hormone deficiency
SEQ3541 Sulfite oxidase deficiency caused by molybdenum cofactor deficiency
SEQ3551 Xanthine dehydrogenase deficiency
SEQ3561 Interleukin 1 receptor antagonist deficiency
SEQ3511 ACYL-CoA dehydrogenase deficiency
SEQ3412 Congenital lactase deficiency
SEQ3362 Congenital Glycosylation Defect type 1B
SEQ3363 Congenital Glycosylation Defect type 1C
SEQ3371 Congenital Heart Defects
SEQ3401 Congenital deficiency of sacarase-isomaltase
SEQ3411 Congenital lactase deficiency, c.4170T>A (p.Tyr1390Ter) LCT gene
SEQ3131 Crouzon syndrome with Acanthosis Nigricans, mutation p.Ala391Glu FGFR3 gene
SEQ3132 Crouzon Syndrome with Acanthosis Nigricans
SEQ3141 Crouzon syndrome, syndrome
SEQ3351 Darier's disease
SEQ3361 Congenital Glycosylation Defect type 1A
SEQ3101 Craniosynostosis
SEQ3111 Craniosynostosis Type 1
SEQ3112 Craniosynostosis Type 2
SEQ3113 Craniosynostosis Type 3
SEQ3062 Cornelia de Lange syndrome
SEQ3063 Cornelia de Lange syndrome
SEQ3064 Cornelia de Lange syndrome
SEQ3081 Costello syndrome
SEQ3024 Benign familial neonatal-infantile seizures
SEQ3061 Cornelia de Lange syndrome
SEQ3001 Blomstrand-type chondrodysplasia
SEQ3011 Lethal congenital contractures syndrome type 1
SEQ3021 Benign familial neonatal-infantile seizures
SEQ3022 Benign familial neonatal-infantile seizures
SEQ3023 Benign familial neonatal-infantile seizures
SEQ2971 Chondrodysplasia with congenital joint dislocations
SEQ2981 Schmid-type metaphyseal chondrodysplasia
SEQ2991 Recessive X-linked chondrodysplasia punctata
SEQ2992 Chondrodysplasia punctata
SEQ2993 Dominant X-linked chondrodysplasia punctata
SEQ2994 Chondrodysplasia Punctata, Rhizomelic type
SEQ2941 Cohen syndrome, c.3348_3349delCT mutation VPS13B gene
SEQ2942 Cohen syndrome
SEQ2911 Coats disease
SEQ2921 Cockayne syndrome
SEQ2922 Cockayne syndrome
SEQ2923 Cockayne syndrome
SEQ2931 Coffin-Lowry syndrome
SEQ2891 Citrullinemia
SEQ2892 Classic citrullinemia
SEQ2893 Late-onset citrullinemia type II
SEQ2901 CK syndrome
SEQ2851 Chudley-McCullough syndrome
SEQ2861 Cinca Syndrome (Childhood Multisystemic Inflammatory Disease)
SEQ2821 CHARGE syndrome
SEQ2831 Chediak-Higashi syndrome
SEQ2841 CHILD syndrome
SEQ2761 Char syndrome
SEQ2681 Canavan disease
SEQ2691 Cantú syndrome
SEQ2643 Calcinosis, tumor
SEQ2651 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
SEQ2671 Cardiac channelopathies
SEQ2431 Bruck syndrome
SEQ2601 C syndrome
SEQ2402 Brachydactyly type E
SEQ2403 Brachydactyly type E
SEQ2404 Brachydactyly type E
SEQ2405 Brachydactyly mental retardation syndrome
SEQ2411 Brachiolmia type 3
SEQ2421 BRESEK syndrome
SEQ2361 Bloom syndrome
SEQ2371 BNAR syndrome
SEQ2381 Branchial-oculo-facial syndrome
SEQ2391 Branchio-oto-renal syndrome Type 1
SEQ2401 Brachydactyly type B2
SEQ2271 Beals Syndrome (Congenital Contractural Arachnodactyly)
SEQ2281 NIMSeq® sg SC CDKN1C gene. Beckwith-Wiedemann syndrome
SEQ2233 Bardet-Biedl syndrome type 13
SEQ2241 Bardet-Biedl syndrome type 1
SEQ2041 Axenfeld-Riegeer syndrome type 1
SEQ2043 Axenfeld-Riegeer syndrome type 3
SEQ1991 ATR-X syndrome
SEQ2001 X-linked autism
SEQ2015 Familial autoinflammatory type Behcer-likem syndrome
SEQ1982 Dominant Optic Atrophy Type 1
SEQ1983 Dominant Optic Atrophy Type 3
SEQ1984 Optic Atrophy Type 7
SEQ1929 Spinocerebellar Ataxia Type 28
SEQ1951 Ataxia Telangiectasia
SEQ1961 Ataxia Telangiectasia like
SEQ1842 Distal arthrogryposis type 2B
SEQ1844 Distal arthrogryposis type 7
SEQ1851 Childhood progressive pseudo-rheumatoid arthropathy
SEQ1861 X-linked Asperger syndrome
SEQ1811 Argininemia (Arginase Deficiency)
SEQ1841 Distal arthrogryposis type 2A
SEQ1771 Antley-Bixler syndrome
SEQ1772 Anttley-Bixler-like syndrome, ambiguous genitalia, impaired steroidogenesis
SEQ1781 Apert syndrome, p.Ser252Trp and p.Pro253Arg mutations by FGFR2 gene sequencing
SEQ1791 Fibula aplasia - complex brachydactyly (Du Pan syndrome)
SEQ1801 Isolated breast aplasia
SEQ1741 Anophthalmia - microphthalmia, isolated
SEQ1742 Anophthalmia - microphthalmia, isolated
SEQ1701 Síndrome de Angelman
SEQ1642 Congenital dyserythropoietic anemia type 1
SEQ1643 Congenital dyserythropoietic anemia type 2
SEQ1644 Congenital dyserythropoietic anemia type 3
SEQ1641 Congenital Dyserythropoietic Anemia
SEQ1591 Andermann syndrome, c.2436delC mutation by SLC12A6 gene sequencing
SEQ1601 Andersen syndrome
SEQ1534 Alzheimer's disease
SEQ1501 Universal alopecia
SEQ1511 Alport syndrome
SEQ1513 Alport syndrome
SEQ1514 Alport syndrome
SEQ1471 Alpha-Thalassemia
SEQ1431 Alcardi-Goutieres syndrome
SEQ1432 Alcardi-Goutieres syndrome
SEQ1433 Alcardi-Goutieres syndrome
SEQ1434 Alcardi-Goutieres syndrome
SEQ1435 Alcardi-Goutieres syndrome
SEQ1400 Alagille Syndrome Type 1
SEQ1402 Alagille Syndrome Types 1 and 2
SEQ1412 Albinism isolated and syndromic forms
SEQ1414 Oculocutaneous albinism type 2
SEQ1421 Alkaptonuria
SEQ1389 Lissencephaly
SEQ1390 Early-onset myopia, areflexia, respiratory distress, and dysphagia syndrome (EMARDD)
SEQ1391 Renal agenesis
SEQ1395 Aicardi Goutieres syndrome
SEQ1385 Fatty Acid Oxidation Syndrome
SEQ1386 Tyrosinemia
SEQ1387 Congenital disorders of glycosylation
SEQ1378 Maple syrup urine disease
SEQ1373 Arthrogryposis
SEQ1376 Coenzyme Q10 deficiency
SEQ1361 Primary pigmented nodular adrenocortical disease
SEQ1362 Primary pigmented nodular adrenocortical disease
SEQ1351 Adams-Oliver syndrome
SEQ1352 Adams-Oliver syndrome
SEQ1356 Adams-Oliver syndrome
SEQ1341 Acrodysostosis 1 and 2, with or without hormonal resistance
SEQ1325 Changes in folate and homocysteine metabolism
SEQ1326 Sulfite oxidase, molybdenum and xanthine deficiency
SEQ1331 Achondroplasia, Mutation p.Gly380Arg (c.1138G>A and c.1138G>C) FGFR3 gene
SEQ1332 Achondroplasia, Mutations p.Gly375Cys (c.1123G>T), p.Gly380Arg (c.1138G>A and c.1138G>C) FGFR3 gene
SEQ1302 Fumaric aciduria
SEQ1311 Hereditary orotic aciduria
SEQ1315 Acidemia/Organic Aciduria and Cobalamin deficiency
SEQ1321 Achondrogenesis type 1b
SEQ1322 Achondrogenesis type II
SEQ1283 Recessive Distal Renal Tubular Acidosis
SEQ1291 2-hydroxyglutaric aciduria
SEQ1301 Fumaric aciduria, mutation c1431_1433dupAAA FH gene
SEQ1261 Methylmalonic acidemia with homocystinuria, type cbl F
SEQ1267 Mevalonic acidemia syndrome, porokeratosis 3, hyper-IgD syndrome
SEQ1271 Propionic acidemia
SEQ1272 Propionic acidemia
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
SEQ1251 Methylmalonic acidemia, mutation c.322C>T MUT
SEQ1252 Methylmalonic acidemia
SEQ1253 Methylmalonic acidemia
SEQ1254 Methylmalonic acidemia
SEQ1225 Greig Cefalopolisindactilia syndrome, Pallister-Hall syndrome, postaxial polydactyly types A and B and prefacial polydactyly type IV
SEQ1230 Glutaric acidemia type 1, GCDH
SEQ1231 Glutaric acidemia
SEQ1233 Glutaric acidemia type 3
SEQ1234 Glutaric acidemia type 4
SEQ1087 Ambiguous Genitalia
SEQ1088 Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus
SEQ1089 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
SEQ1201 Aarskog syndrome
SEQ1221 Aceruloplasminemia
SEQ1084 Noonan syndrome
SEQ1086 Ataxia - Oculomotor apraxia type 4 / Epileptic encephalopathy of early childhood
SEQ1077 Phenylketonuria
SEQ1073 Cleft Hand / Foot Malformation 1 with Sensorineural Hearing Loss
SEQ1048 Spinocerebral ataxia
SEQ1037 Alternating hemiplegia of childhood
SEQ1025 Congenital myasthenia
SEQ1002 3-M syndrome
SEQ1011 3-M syndrome
SEQ1012 3-M syndrome
SEQ1001 3-M syndrome
PRE6002 Ambiguous genitalia
PRE7001 Rasopathies (Noonan Syndrome included)
PRE7002 Noonan syndrome / Noonan-like syndrome / Costello syndrome / Cardiofaciocutaneous syndrome / Legius syndrome
PRE7003 Prenatal skeletal dysplasias
MLP3625 Wolf-Hirschhorn syndrome
MLP3701 Fragile X syndrome
MLP3550 Waardenburg syndrome
MLP3611 Williams-Beuren syndrome
MLP3421 Treacher Collins 1 syndrome
MLP3431 Tricho-rhino-phalangeal syndrome type 1 / Langer-Giedion syndrome
MLP3311 Simpson-Golabi-Behmel syndrome
MLP3315 Smith-Lemli-Opitz, syndrome of
MLP3321 Smith-Magenis syndrome
MLP3331 Sotos syndrome
MLP3341 Autosomic dominant Stickler syndrome
MLP3131 Idiopathic growth retardation
MLP3141 Rett syndrome
MLP3151 Rubinstein–Taybi syndrome
MLP3301 Segawa disease
MLP3302 Segawa disease / myoclonic dystonia 11 syndrome
MLP3101 Resistance to insulin-like growth factor I
MLP3001 Pompe disease
MLP2931 Pelizaeus-Merzbacher disease/ Spastic paraplegia type 2
MLP2971 Pitt-Hopkins syndrome / Congenital variant of Rett syndrome
MLP2751 Niemann-Pick disease type C
MLP2801 Opitz syndrome
MLP2811 Osteogenesis imperfecta
MLP2812 Osteogenesis imperfecta
MLP2831 Oto-facio-cervical syndrome
MLP2601 Mucopolysaccharidosis type II or Hunter syndrome
MLP2611 Multiple exostoses
MLP2701 Nail Patella syndrome
MLP2561 Menkes syndrome
MLP2571 Syndromic microphthalmia type 3
MLP2541 Marfan syndrome
MLP2542 Marfan syndrome
MLP2421 Heart and limb malformations
MLP2431 X-linked lissencephaly
MLP2441 Loeys-Dietz syndrome
MLP2511 Limb malformations
MLP2311 Kallmann 1 syndrome
MLP2321 Kleefstra syndrome
MLP2341 Krabbe disease
MLP2205 Mediterranean fever family
MLP2250 Hereditary fructose intolerance
MLP2301 Kabuki syndrome
MLP2131 X-linked hypophosphatemia
MLP2001 Gorlin syndrome
MLP1821 Autosomal Dominant Lateral Temporal Lobe Epilepsy
MLP1751 Dravet syndrome
MLP1811 Glycine encephalopathy
MLP1711 Optic atrophy
MLP1651 Mitochondrial DNA depletion Syndrome
MLP1655 Diabetes type MODY.
MLP1661 DiGeorge syndrome
MLP1665 Gonadal dysgenesis
MLP1551 CRI-DU-CHAT syndrome.
MLP1611 Fumarase deficiency
MLP1621 Ornithine transcarbamylase deficiency
MLP1631 X-linked creatine transporter deficiency
MLP1471 Cohen syndrome
MLP1481 Cholestasis
MLP1501 Cornelia de Lange syndrome
MLP1511 Cowden disease
MLP1454 X-linked Charcot-Marie-Tooth disease
MLP1401 Gonadal dysgenesis
MLP1211 Beckwith-Wiedemann syndrome / Russell-Silver syndrome
MLP1096 FANCA
MLP1097 Temple syndrome
MLP1071 Angelman syndrome / Prader Willi syndrome
MLP1091 Ataxia-Telangiectasia
MLP1011 Alagille syndrome type 1
MLP1021 Ocular albinism type 1
MLP1031 Oculocutaneous albinism type II
MLP1051 Alport syndrome/ Hereditary nephritis
MLP1001 Aarskog-Scott syndrome
EXN5008 Generalised epilepsy with febrile seizures plus
EXN5010 Focal Epilepsy
EXN5011 Benign familial neonatal-infantile seizures
EXN5003 Frontal Lobe Nocturnal Epilepsy
EXN5005 Progressive Myoclonic Epilepsy
EXN5006 Juvenile Myoclonic Epilepsy
EXN1170 Brachydactyly and Syndactyly
EXN1171 Metaphyseal dysplasia
EXN1160 Klippel-Feil syndrome
EXN1165 Acidemia / Organic Aciduria and Cobalamin deficiency
EXN1166 Alterations in the Metabolism of Purines and Pyrimidines
EXN1159 Maple syrup urine disease
EXN1144 VACTERL/VATER association and syndromes included in the differential diagnosis
EXN1148 Orofaciodigital syndromes
EXN1129 Congenital disorders of glycosylation
EXN1130 Hypogonadotropic hypogonadism
EXN1134 Deficiency of sulfite oxidase, molybdenum cofactor and xanthine dehydrogenase
EXN1135 Pre-auricular lump
EXN1136 Non-ketotic hyperglycemia - Glycine encephalopathy
EXN1121 Jarcho Levin syndrome
EXN1124 Septo-optic dysplasia
EXN1125 Alterations of folate and homocysteine metabolism
EXN1127 Waardenburg syndrome
EXN1113 Hypercalcaemia
EXN1116 Meckel syndrome
EXN1110 Hermansky‐Pudlak syndrome
EXN1103 Alport syndrome
EXN1106 Short stature
EXN1107 Albinism
EXN1097 Congenital cardiopathies
EXN1101 Adams-Oliver syndrome
EXN1092 Alternating hemiplegia of childhood
EXN1093 Angelman syndrome and and syndromes included in the differential diagnosis
EXN1088 Cleft lip and cleft palate
EXN1091 Overgrowth and macrocephaly
EXN1080 Congenital diarrhea or early-onset chronic diarrhea
EXN1082 Limb malformations
EXN1078 Autism
EXN1074 X-linked intellectual disability
EXN1065 Congenital myasthenia
EXN1060 Coffin-Lowry syndrome
EXN1061 Osteogenesis Imperfecta
EXN1062 Robinow syndrome
EXN1064 Facial Dysostosis
EXN1054 Coffin-Siris syndrome
EXN1055 Rubinstein-Taybi syndrome
EXN1058 Lysosomal and Peroxisomal Diseases
EXN1051 Arthrogryposis
EXN1044 Sotos syndrome and related syndromes
EXN1037 Donnai-Barrow syndrome
EXN1038 Microcephaly and pontocerebellar hypoplasia
EXN1034 Bone dysplasias
EXN1022 Kabuki syndrome
EXN1023 Congenital ichthyosis
EXN1016 Congenital Disorders of Brain Morphogenesis
EXN1005 Cornelia de Lange syndrome
EXN1006 Craniosynostosis
EXN1007 Intellectual disability/mental retardation
EXN1012 RASopathies
CGH5001 UPD7 microsatellite analysis for Sd. Silver russell
CGH5015 Analysis of microsatellites for detection of UPD chr15 for Angelman Syndrome
EXN1001 Aicardi-Goutieres syndrome
As referências SEQ correspondem a estudos realizados utilizando o NIMSeq®
As referências EXN correspondem a estudos realizados com ExoNIM®

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