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Desordens Genéticas Detectáveis

  • Aarskog (X-FGD1)
  • Achondroplasia (FGFR3)
  • Actin-Nemalin Myopathy (ACTA1)
  • Adenomatous Polyposis Coli (FAP-APC)
  • Adrenoleukodystrophy (ABCD1)
  • Agammaglobulinemia-Bruton (BTK)
  • Alagille Syndrome (JAG1)
  • Aldolase Adeficiency (ALDOA)
  • Alpha Thalassemia (HBA1)
  • Alpha Thalassemia/Mental Retard (ATRX)
  • Alpha-1-Antitrypsin Deficiency (AAT)Alport Syndrome (COL4A5)
  • ALS: Amyotrophic Lateral Sclerosis 1, (SOD1)
  • Alzheimer Disease 3 (PSEN1)
  • Amegakaryocytic Thrombocytopenia, Congenital (CAMT)
  • Amyloidosis I-Transthyretin (TTR)
  • Angioedema, Hereditary (C1NH)
  • Ankylosing spondylitis (Susceptibility to, HLA-B27)
  • Antithrombin Deficiency (SERPINC1)
  • Apert Syndrome (FGFR2)
  • Ataxia Telangiectasia (ATM)
  • Basal Cell (Gorlin) Synd (PTCH)
  • Beta Thalassemia (HBB)
  • Bloom Syndrome (BLM)
  • Brachydactyly-Type C (GDF5)
  • Breast Cancer (BRCA1 & 2)
  • CACH-Ataxia (EIF2B4)
  • CADASIL(Notch3)
  • Canavan Disease (ASPA)
  • Cardiomyopathy, Barth Type Dilated (TAZ)
  • Cardiomyopathy, Dilated Hypertrophic (MYH7)
  • Dilated Hypertrophic Cardiomyopathy MYH7
  • Carnitine-AcylCarn Translocase (SLC25A20)
  • Ceroid-Lipofuscinoses-Batten Disease (PPT1)
  • Ceroid-Lipofuscinoses-Finish Type (CLN5)
  • Ceroid-Lipofuscinoses-Juvenile Type (CLN3)
  • Charcot Marie Tooth 1A(PMP22)
  • Charcot Marie Tooth Neuropathy – 2E, (NF-L, NEFL)
  • Charcot-Marie-Tooth neuropathy 1B (MPZ)
  • Cherubism (SH3BP2)
  • Choroideremia (CHM)
  • Chronic Granulomatous Disease (CYBB)
  • Citrullinemia (ASS)
  • Cleidocranial Dysplasia (RUNX2)
  • Cockayne syndrome type B (CSB; ERCC6)
  • Colon Cancer (HNPCC; MSH2)
  • Congenital Adrenal Hyperplasia (CYP21A2 )
  • Congenital Disorder Glycosylation, 1a – CDG-1a (PMM2)
  • Congenital Disorder Glycosylation, 1c – CDG-1c (ALG6)
  • Congenital Disorder Glycosylation, 1e – CDG-1e (DPM1)
  • Congenital Disorder Glycosylation, 1g – CDG-1g (ALG12)
  • Congenital Erythropoietic Porphyria (UROS)
  • Cosman-Cyclic Neutropenia (ELA2)
  • Crigler Najjar (UGT1A1)
  • Crouzon Syndrome (FGFR2)
  • Cystic Fibrosis (CFTR)
  • Cystinosis (CTNS)
  • Darier Disease (ATP2A2)
  • Deafness, Recessive – (GJB2 Connexin 26)
  • Deafness, Recessive – (GJB6 Connexin 30)
  • Deafness, Recessive (DFBN1)
  • Denys-Drash Wilms Tumor (Wt1)
  • Desmin Storage Myopathy (DES)
  • Diamond Blackfan (DBA-RPS19)
  • Diamond Blackfan (DBA2) Not RPS19
  • Duchenne muscular dystrophy (DMD)
  • Dystonia (TOR1A)
  • Dystrophia Myotonica-1 (DMPK) CTGrpt
  • Dystrophia Myotonica-2 (DM2; PROMM) CCTGrpt
  • Ectodermal Dysplasia I EDA1
  • Ehlers-Danlos COL3A1
  • Emery-Dreifuss X-Linked Muscular Dystrophy
  • Emery-Dryfuss AutoDom Muscular Dystrophy (LMNA)
  • Epidermolysis Bullosa (KRT5)
  • Epidermolysis Bullosa Simplex KRT14
  • Epidermolysis Bullosa/Pyloric Atresia – ITGB4
  • Epidermolysis Dystrophic Bullosa-COL7A1
  • Epidermolytic Hyperkeratosis (KRT10)
  • Fabry (GLA)
  • Facioscapulohumeral Dystrophy (FSHD)
  • Factor 13 Deficiency (F13A1)
  • Familial Dysautonomia (IKBKAP)
  • Familial Exudative Vitreoretinopathy FZD4
  • Fanconi Anemia A(FANCA)
  • Fanconi Anemia C (FANCC)
  • Fanconi Anemia F (FANC F)
  • Fanconi Anemia J (FANCJ, BRIP1)
  • Fanconia Anemia G (FANCG)
  • Fragile X (FMR1)
  • Friedreich Ataxia I (FRDA)
  • Galactosemia (GALT)
  • Gastric Cancer, Cadherin-E-1 (CDH1)
  • Gaucher Disease (GBA)
  • Genotyping-Molecular Signature-Fingerprinting
  • Glutaric Acidemia 2A(ETFA)
  • Glycine Encephalopathy GLDC 80% (NKH)
  • Glycogen Storage Disease I, Von Girke – GSD1a (G6PC)
  • Glycogen Storage Disease 2, Pompe – GSD2 (GAA)
  • GM1 Gangliosidosis, Morquio (GLB1)
  • Hallervorden-Spatz-Pantothenate (PANK2)
  • Hemophilia A(Factor 8)
  • Hemophilia B (Factor 9)
  • Hereditary Hemmorrhagic Telangietasia Type 1 (HHT1)
  • Histiocytosis, Hemophagocytic Lympho- (HLH; PRF1)
  • HLADRBeta1 Class II MHC (HLADRB1*)
  • HLA-Histocompatability, Transplantation Matching (HLA)
  • Hunter syndrome (IDS)
  • Huntington Disease (HD)
  • Hurler Syndrome (MPSI-IDUA)
  • Hydrocephalus:X-Linked L1CAM
  • Hyper IgM (CD40-ligand; TNFSF5)
  • Hypokalemic periodic paralysis (SCN4A-HYPP)
  • Hypophosphatasia (ALPL)
  • Hypophosphatemic VitD RicketsIcthyosis, X-Steroid Sulf Def
  • Icthyosis.Congenital, Harlequin (ABCA12)
  • Incontinentia Pigmenti (NEMO)
  • KELLAntigen (KEL)
  • Kennedy-Spinal bulbar (AR)
  • Krabbe (GALC)
  • Leber Retinal Congenital Amaurosis-I (GUCY2D)
  • Leber Retinal Congenital Amaurosis-X (CEP290)
  • Lesch-Nyhan (HPRT1)
  • Leukemia, Acute Lymphocytic, Transplantation (ALL)
  • Leukemia, Acute Myelogenous, Transplantation (AML)
  • Leukemia, Chronic Myelogenous, Transplantation (CML)
  • Leukocyte Adhesion Deficiency (ITGB2)
  • Li-Fraumeni Syndrome (Tp53)
  • Long-Chain-AcylCoADehydrogenase (LCHAD:HADHA)
  • Lymphedema-Hereditary (FOXC2)
  • Lymphoproliferative Disorder, X-linked (SH2D1A)
  • Machado-Joseph Spinocerebellar Ataxia-3 (SCA3)
  • Macular Dystr-Best Vitelliform (VMD2)
  • Maple Syurp Urine Dz E1-Beta (BCKDHB)
  • Marfan Syndrome (FBN1)
  • Meckel-Gruber Syndrome-3 (MKS3)
  • Menkes (ATP7A)
  • Merosin-deficient congenital muscular dystrophy type 1A(MDC1A)
  • Metachromatic Leukodystrophy (ARSA)Methylcobalamin G Deficiency (MTR)
  • Methylmalonic Acidemia (MUT)
  • Mitochondrial Myopathy-Complex I (NDUFS4)
  • Mucolipidosis 2, I Cell (GNPTAB)
  • Multiple Endocrine Neoplasia 1 (MEN1)
  • Multiple Endocrine Neoplasia 2 MEN2 (RET)
  • Multiple Extostoses (EXT1)
  • Multiple Extostoses (EXT2)
  • Myasthenia Gravis (CHRNE)
  • Myotubular Myopathy X-Linked (MTM)
  • NEMO immunodeficiency (IKBKG)
  • Nephrosis – Finnish (NPHS1)
  • Neurofibromatosis 1 (Nf1)
  • Neurofibromatosis 2 (Nf2)
  • Niemann Pick – Type A(SMPD1)
  • Niemann Pick – Type C (NPC1)
  • NonKetotic Hyperglycinemia (GLDC)N
  • oonan (PTPN11)Norrie (NDP)
  • Occulocutaneous Albinism II- (OCA2)
  • Occulocutaneous Albinism I, OCA1 (TYR)
  • Ocular Albinism-X Linked (GPR143)
  • Oculodentodigital Dysplasia (GJA1)
  • Optic Atrophy 1 (OPA1)
  • Ornithine transcarbamylase deficiency (OTC)
  • Osteogenesis Imper II/IV & Chondrodysplasias(COL1A2)
  • Osteogenesis Imperfecta I (COL1A1)
  • Osteopetrosis (CLCN7)
  • Osteopetrosis (TCIRG1;APT6)
  • Pachyonychia Congenita (KRT6A)
  • Pachyonychia Congenita (KRT16A)
  • Pancreatitis, Chronic Calcific (PRSS1)
  • Paraganglioma-Nonchromaffin (SDHB)
  • Pelizaeus-Merzbacher, X-linked (PLP1)
  • Periventricular Heteropia (FLNA)
  • Persistent Hyperinsulinemic Hypoglycemia of Infancy (ABCC8)
  • Pfeiffer Syndrome (FGFR2)
  • Phenylketonuria PKU (PAH)
  • Pheochromocytoma (SDHB)
  • Polycystic Kidney Disease (PKD1)
  • Polycystic Kidney Disease (PKD2)
  • Polycystic Kidney Disease, Recessive (PKHD1)
  • Pompe, Glycogen Storage Disease 2, GSD2 (GAA)
  • Propionic Acidemia (PCCA)
  • Pseudohypoparathyroidism 1a (GNAS1)
  • Retinitis Pigmentosa (RHO)
  • Retinitis Pigmentosa adRP10 (IMPDH1)
  • Retinitis Pigmentosa X-linked (RPGR)
  • Retinoblastoma 1 (Rb1)
  • Retinoschisis, (Rs1)
  • Rhesus blood group D (RHD)
  • Rhizomelic Chondrodysplasia Punctata (RCDP1)
  • Sacral Agenesis (HLXB9)
  • Sanfilippo A(MPSIIIA)
  • Sanfillipo B (MPSIIIB) (NAGLU)
  • Sathre-Chotzen Craniosynostosis (TWIST)
  • SCIDX1 (IL2RG)
  • Severe Comb Immunodef (SCID)
  • Shwachman-Diamond Syndrome (SBDS)
  • Sickle Cell (HBB)
  • Smith-Lemli-Opitz (SLOS)
  • Sorsby Fundus Dystrophy (TIMP3)
  • Spinal muscular atrophy SMA(SMN1)
  • Spinocerebellar Ataxia-1, SCA1 (ATNX1)
  • Spinocerebellar ataxia-2, SCA2 (ATXN2)
  • Spinocerebellar Ataxia-3, Machado-Joseph (SCA3)
  • Spinocerebellar Ataxia-7 (ATXN7)
  • Spondyloepiphyseal dysplasia, congenital (SEDc)
  • Steroid Sulfatase Deficiency (STS)
  • Stomach-Ovarian-Endometrial Cancer (CDH1)
  • Supravalvular Aortic Stenosis (ELN)
  • Surfactant-Pulmonary B (SFTPB)
  • Tay-Sachs (HEXA)
  • Torsion dystonia (DYT1)
  • Treacher Collins (TCOF1)
  • Transplantation-BoneMarrow-StemCell (HLAlocus)
  • Tuberous Sclerosis 1 (TSC1)
  • Tuberous Sclerosis 2 (TSC2)
  • VanderWoude-Popliteal Pterygium (IRF6)
  • Von Hippel-Lindau Disease (VHL)
  • Waardenburg Syndrome Type II (MITF)
  • Waardenburg Syndrome-I/III (PAX3)
  • West Syndrome (ARX)
  • Wilms Tumor (Wt1)
  • Wiskott-Aldrich Syndrome (WAS)
  • Wolman Lipase A(LIPA)
  • Zellweger Peroxisome Disease (PEX1)