CARRIER SCREEN - LIST OF DISORDERS

Transcription

1 1 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 2 17-Beta-Hydroxysteroid deyhdrogenase X deficiency 3 2-Methylbutytyrglycinuria 4 21-hydroxylase deficiency 5 3-Methylcrotonyl-CoA carboxylase 1 deficiency 6 3-Methylcrotonyl-CoA carboxylase 2 deficiency 7 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 8 Aaarskog-Scottsyndrome;Mental retardation, X-linked 16 9 ABCC8-Related Hyperinsulinism 10 Abetalipoproteinemia 11 Achondrogenesis, type IB 12 Achromatopsia 3 13 Acyl-CoA dehydrogenase, medium chain deficiency of 14 Acyl-CoA dehydrogenase, short chain deficiency of 15 Adenosine Deaminase Deficiency 16 Adrenal Hyperplasia congenital due to 17-alpha-hydroxylase deficiency 17 Adrenal Hyperplasia congenital due to 21-hydroxylase deficiency 18 Adrenoleukodystrophy : X-linked 19 Alkaptonuria 20 Allan-Herndon-Dudley syndrome 21 Alpha-Mannosidosis 22 Alpha-methylacetoacetic aciduria 23 Alpha-Sarcoglycanopathy(including Limb-Girdle Muscular Dystrophy, Type 2D) 24 Alpha-Thalassemia/mental retardation syndrome 25 Alport syndrome, autosomal recessive COL4A3 related 26 Alport syndrome, autosomal recessive COL4A4 related 27 Alport syndrome, X-linked 28 Alstrom Syndrome 29 AMT-Related Glycine Encephalopathy 30 Andermann syndrome 31 Androgen insensitivity 32 Argininemia 33 Argininosuccinic aciduria 34 Aromatase deficiency 35 ARSACS 36 Arts Syndrome 37 Aspartylglucosaminuria 38 Ataxia with vitamin E deficiency 39 Ataxia-telangiectasia syndrome 40 ATP7A-Related Disordes 41 Auditory Neuropathy, autosomal recessive, 1 42 Autoimmune polyendocrinopathy syndrome, type 1 with or without reversible metaphyseal dysplasia 43 Autosomal Recessive Osteoporosis Type 1 44 Autosomal recessive polycystic kidney disease 45 Bardet-Biedl syndrome 1 46 Bardet-Biedl syndrome Bardet-Biedl syndrome Bardet-Biedl syndrome 14;Joubert syndrome 5; Meckel syndrome 4; Senior-Loken syndrome 6 49 Bardet-Biedl syndrome 2 50 Bare Lymphocyte Syndrome type II Safembryo 1/9

2 51 Bartter syndrome, type 4a 52 Beta-sarcoglycanopathy 53 Biotinidase deficiency 54 Bloom syndrome 55 Calpainopathy 56 Canavan disease, mild 57 Carbamoylphosphate synthetase I deficiency 58 Carnitine palmitoyltransferase I deficiency 59 Carnitine palmitoyltransferase II deficiency 60 Carnitine deficiency, systemic primary 61 Carnitine acylcarnitine translocase deficiency 62 Cartilage- Hair Hypoplasia 63 Cerebrotendinous xanthomatosis 64 Ceroid lipofuscinosis neuronal Ceroid lipofuscinosis neuronal 2 66 Ceroid lipofuscinosis neuronal 3 67 Ceroid lipofuscinosis neuronal 5 68 Ceroid lipofuscinosis neuronal, 6 69 Ceroid lipofuscinosis neuronal, 7 70 Ceroid lipofuscinosis neuronal 8 71 Ceroid lipofuscinosis neuronal, type 1 72 Ceroid lipofuscinosis neuronal, type 2 73 Charcot -Marie Tooth disease with deafness: X linked PRPS1 Related 74 Charcot-Marie Tooth neuropathy, X-linked 75 Charcot-Marie Tooth disease type 4B1 76 Charcot-Marie Tooth disease type 4C 77 Charcot-Marie Tooth disease type 4D 78 Charcot -Marie Tooth Neuropathy Type 4A 79 Cholestasis, benign recurrent intrahepatic, 2 80 Citrullinemia 81 Citrullinemia adult-onset type II;typw II neonatala-onset 82 Coffin-Lowry syndrome 83 Cohen Syndrome 84 Combined malonic and methylmalonic acidemia 85 Cone-rod dystrophy 3 86 Cone-rod dystrophy (Congenital Leber Amaurosis, 4) 87 Cone-rod dystrophy X-linked 88 Congenital Disorder of glycosylation Type 1a 89 Congenital Disorder of glycosylation Type 1b 90 Congenital Disorder of glycosylation Type 1c 91 Congenital Finnish Nephrosis 92 Corneal endothelial dystrophy and sensorineural deafness 93 Costeff-Optic Atrophy Syndrome 94 Crigler-Najjar syndrome, type I 95 Cystathioninouria 96 Cystic fibrosis 97 Cystic Fibrosis; Congenital bilateral absence of vas deferens 98 Cystinosis 99 Cystinosis, atypical nephropathic 100 Cystinuria Safembryo 2/9

3 101 D-Bifunctional Protein Deficiency 102 Deafness autosomal recessive Deafness autosomal recessive 18A 104 Deafness, autosomal recessive 1A 105 Deafness, autosomal recessive 1b 106 Deafness autosomal recessive Deafness autosomal recessive 4, with enlarged vestibular aqueduct 108 Delta-Sarcoglycanopathy 109 Dent disease Diabetes mellitus, neonatal, with congenital hypothyroidism 111 Diastrophic dysplasia 112 Dihydrolipoamide dehydrogenase deficiency 113 Duchene muscular dystrophy; Becker muscular dystrophy 114 Dysferlinopathy 115 Dysprothrombinemia 116 Distrophinopathies(including Duchenne/Becker muscular dystrophy) 117 Ehlers-Danlos syndrome type VI 118 Ehlers-Danlos syndrome type VIIC 119 Ellis-van Creveld syndrome 120 Emery-Dreifuss muscular dystrophy 1 X-linked 121 Emphysema due to Alpha1 Anti-Trypsin deficiency 122 Enhanced S-cone syndrome (Retinitis pigmentosa 37) 123 Epidermolysis bullosa, dystrophica, AR 124 Epidermolysis bullosa, junctional, Herlitz type; non Herlitz type 125 Epilepsy X-linked, with variable learning disabilities and behavior disorders 126 Epileptic encephalopathy, early infantile, ERCC6-Related Disorders 128 ERCC8-Related Disorders 129 Ethylmalonic encephalopathy 130 Fabry disease 131 Factor V deficiency 132 Factor V Leiden thrombophilia 133 Factor XI deficiency,autosomal dominant & recessive 134 Familial Mediterranean fever 135 Familial dysautonomia 136 Fanconi anemia 137 Fanconi anemia, complementation group A 138 Fanconi anemia, complementation group C 139 Favism 140 FKRP-Related disorders 141 FKTN-Related disorders (including Walker-Warburg syndrome) 142 Folate malabsorption,hereditary 143 Fragile X syndrome 144 Friedreich ataxia with retained reflexes 145 Fructose intolerance 146 Fumarase deficiency 147 Galactokinase deficiency with cataracts 148 Galactokinase deficiency 149 Galactose epimerase deficiency 150 Galactosemia 151 Gamma-Sarcoglycanopathy Safembryo 3/9

4 152 Gaucher disease,perinatal lethal 153 Gaucher disease types I and II 154 GJB2-Related DFNB1 Nonsyndromic hearing loss and deafness 155 GLB1-Related disorders 156 Glutamate formiminotransferase deficiency 157 Glutaric acidemia type Glutaric acidemia IIA 159 Glutaric acidemia IIB 160 Glutaric acidemia IIC 161 Glutaricaciduria, type I 162 Glycine encephalopathy 163 Glycine N-methyltransferase deficiency 164 Glycogen storage disease Ia 165 Glycogen storage disease Ib 166 Glycogen storage disease II/Pompe disease 167 Glycogen storage disease III 168 Glycogen storage disease IIIa 169 Glycogen storage disease IV 170 GM1 gangliosidosis type GM1 gangliosidosis type GM1 gangliosidosis type GNPTAB-Related disorders 174 Goldman-Favre syndrome 175 GRACILE syndrome 176 HADHA-Related disorders(including long chain 3-hydroxyacyl-CoA Deyhdrogenase deficiency) 177 HARP syndrome 178 Hartnup disorder 179 Hb beta chain -Related hemoglobinopathy(including beta thalassemia and sickle cell disease) 180 Heimler syndrome type Hemochromatosis type Hemochromatosis type 2A; HFE2 Related 183 Hemophilia A 184 Hemophilia A, factor VIII deficiency, X-linked 185 Hemophilia B 186 Hemophilia B, factor IX deficiency 187 Hereditary Fructose intolerance 188 Herlitz junctional epidermolysis bullosa LAMA3-Related 189 Herlitz junctional epidermolysis bullosa LAMB3-Related 190 Herlitz junctional epidermolysis bullosa LAMC3-Related 191 Hermansky-Pudlak syndrome Hexosaminidase A deficiency, adult type(including Tay-Sachs disease) 193 Histidinemia 194 HMG-CoA lyase deficiency 195 Holocarboxylase synthetase deficiency 196 Homocystinuria due to MTHFR deficiency 197 Homocystinuria -megaloblastic anemia, cbl E type 198 Homocystinuria B6-responsive and nonresponsive types Homocystinuria cbid type variant 1/Methylmalonic aciduria and homocystinuria, cbid type/ 199 Methylmalonic aciduria cbid type variant Homocystinuria caused by cystathionine beta-synthase deficiency 201 Hydrolethalus syndrome Safembryo 4/9

5 202 Hyper IgD syndrome; Mevalonic aciduria 203 Hypercholesterolemia familial 204 Hypercholesterolemia familial, autosomal recessive 205 Hyperinsulinemic hypoglycemia, familial Type Hypermethioninemia due to adenosine kinase deficiensy 207 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Hypermethioninemia persistent autosomal dominant due to methionine adenosyltransferase I/III 208 deficiency 209 Hyperoxaluria primary type I 210 Hyperoxaluria primary type II 211 Hyperoxaluria primary type III 212 Hyperoxaluria III 213 Hyperphenylalanemia, BH4-deficient A 214 Hyperphenylalanemia, BH4-deficient C 215 Hyperphenylalanemia, BH4-deficient D 216 Hyperprolinemia type II 217 Hypoidrotic Ectodermal dysplasia X-linked 218 Hypogonadotropic hypogonadism 7 without anosmia 219 Hypophospatasia infantile 220 Hypophosphatasia autosomal recessive 221 Hypothyroidism, congenital nongoitrous Hypothyroidism, congenital nongoitrous Icthyosis, congenital autosomal recessive Immunodeficiency, X-linked with hyper-igm 225 Inclusion Body myopathy Isovaleric acidemia 227 Joubert syndrome Joubert syndrome Joubert syndrome Joubert syndrome KCNJ11-Related familial hyperinsulinism 232 Krabbe Disease 233 LAMA2-Related muscular dystrophy 234 LCHAD deficiency 235 Leber congenital amaurosis Leber congenital amaurosis Leber congenital amaurosis Leber congenital amaurosis Leber congenital amaurosis Leigh syndrome due to COX deficiency 241 Leigh syndrome French-Canadian type 242 Limb-girdle muscular dystrophy type 2B 243 Limb-girdle muscular dystrophy type 2I; Muscular dystrophy dystroglycanopathy 244 Lipoamid Dehydrogenase deficiency 245 Lipoid adrenal hyperplasia 246 Lipoid congenital adrenal hyperplasia 247 Lissencephaly, X-linked 248 Lysosomal Acid lipase deficiency 249 Macular corneal dystrophy 250 Malonyl-CoA decarboxylase deficiency 251 Mannosidosis alpha- types I and II Safembryo 5/9

6 252 Maple syrup urine disease type 1A 253 Maple syrup urine disease type 1B 254 Maple syrup urine disease type MASA syndrome/crash syndrome 256 Mc Ardle disease/glycogen Storage Disease type V 257 Meckel Syndrome Medium chain Acyl-CoA dehydrogenase deficiency 259 Megalencephalic leukoencephalopathy with subcortical cysts 260 Mental retardation and microcephaly with pontine and cerebellar hypoplasia 261 Mental retardation syndrome, X-linked, siderius type 262 Mental retardation, X-linked 263 Mental retardation, X-linked 1/ Mental retardation, X-linked 12/ Mental retardation, X-linked 21/ Mental retardation, X-linked 30/ Mental retardation, X-linked Mental retardation, X-linked Mental retardation, X-linked Mental retardation, X-linked Mental retardation, X-linked Mental retardation, X-linked Mental retardation, X-linked Mental retardation, X-linked Mental retardation, X-linked syndromic Mental retardation, X-linked syndromic, Raymond type 277 Mental retardation, X-linked syndromic, Turner type 278 Mental retardation, X-linked Asperger syndrome suceptibility, X-linked 279 Mental retardation, X-linked FRAXE type 280 Mental retardation, X-linked syndromic Mental retardation, X-linked syndromic Mental retardation, X-linked syndromic Mental retardation, X-linked syndromic, Claes-Jensen type 284 Metachromatic leukodystrophy 285 Methylmalonic acidemia cbia type 286 Methylmalonic acidemia cbib type 287 Methylmalonic aciduria and homocystinuria cbic type 288 Methylmalonic aciduria and homocystinuria cbid type 289 Methylmalonic aciduria and homocystinuria cbif type 290 Methylmalonic aciduria and homocystinuria cbij type 291 Methylmalonic aciduria mut (0) type 292 Methylmalonic aciduria vitamin B12 responsive Methylmalonic aciduria vitamin B12 responsive responsive, due to defect in synthesis of 293 adenosylcobalamin, cbib complementation type 294 Methylmalonic -CoA epimerase deficiency 295 Mevalonic aciduria 296 Micropthalmia isolated MKS1-Realted disorders 298 Mucolipidosis III alpha/beta, atypical 299 Mucolipidosis II and III, alpha/beta 300 Mucolipidosis III gamma 301 Mucolipidosis IV Safembryo 6/9

7 302 Mucopolysaccharidosis type IIIA(Sanfilippo A) 303 Mucopolysaccharidosis type I ( including Hurler Syndrome) 304 Mucopolysaccharidosis type II 305 Mucopolysaccharidosis type II/Hunter Syndrome- X-linked 306 Mucopolysaccharidosis, MPS-III-B (Sanfilippo B) 307 Mucopolysaccharidosis type III-C 308 Mucopolysaccharidosis type III-D 309 Mucopolysaccharidosis type VI(Maroteauc-Lamy) 310 Muscle eye brain disease 311 Muscular dystrophy-dystroglycanopathy(congenital with brain and eye anomalies) 312 Muscular dystrophy-dystroglycanopathy(congenital with brain and eye anomalies) type A,1 313 Muscular dystrophy-dystroglycanopathy(congenital with brain and eye anomalies) type A,2 314 Muscular dystrophy-dystroglycanopathy(congenital with brain and eye anomalies) type A,3 315 Muscular dystrophy-dystroglycanopathy(congenital with brain and eye anomalies) type A,5 316 Muscular dystrophy, limb-girdle, type 2A 317 Muscular dystrophy, limb-girdle, type 2D 318 Muscular dystrophy, limb-girdle, type 2E 319 MUT-Related Methylmalonic acidemia 320 MYO7A-Related Disorders 321 Myopathy due to myoadenylate deaminase deficiency 322 Myotubular myopathy X-linked 323 Myotonia congenita,dominant;recessive 324 NEB-Related Nemaline myopathy 325 Nemaline myopathy 2, autosomal recessive 326 Nephrotic syndrome, type Neutropenia, severe congenital 3, autosomal recessive 328 Niemann-Pick disease type C1 329 Niemann-Pick disease type C2 330 Niemann-Pick disease, type A 331 Niemann-Pick Disease, type B 332 Niemann-Pick Disease, SMPD1-Associated 333 Nijmegen Breakage Syndrome( Ataxia telangectasia type 1) 334 Norrie Disease 335 Northen Epilepsy 336 Nystagmus 6, congenital, X-linked 337 Ornithine transcarbamylase deficiency 338 Osteogenesis imperfecta, type VIII 339 OTC deficiency/ Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome 340 PCCA-Related Propionic Acidemia 341 PCCB-Related Propionic Acidemia 342 PCDH15-Related disorders( including Usher Syndrome, Type 1F) 343 Pelizaeus-Merzbacher disease 344 Pendred's syndrome 345 Peroxisomal acyl-coa oxidase deficiency 346 Peroxisome biogenesis disorder 1A (Zellweger) 347 Peroxisome biogenesis disorder Peroxisome biogenesis disorder Peroxisome biogenesis disorder Peroxisome biogenesis disorder Peroxisome biogenesis disorder 6A (Zellweger) 352 Peroxisome biogenesis disorder 9B;Rhizomelic chondroplasia punctata, type I Safembryo 7/9

8 353 PEX1-Related Zellweger syndrome spectrum 354 Phenylalanine Hydroxylase deficiency 355 Phenylketonuria 356 PKHD1-Related Autosomal recessive polycystic kidney disease 357 Polyglandular autoimmune syndrome, type PPT1-Realted Neuronal ceroid lipofuscinosis 359 Primary carnitine deficiency 360 Primary hyperoxaluria, type I 361 Primary hyperoxaluria, type Primary hyperoxaluria, type PROP1-Related combined pituitary hormone deficiency 364 Propionic acidemia 365 Pycnodysostosis 366 Pyruvate carboxylase deficiency 367 Pyruvate dehydrogenase E1-alpha deficiency: X-linked 368 Pyruvate dehydrogenase E1-beta deficiency 369 Renpenning syndrome 370 Retinitis pigmentosa Retinitis pigmentosa Retinitis pigmentosa Retinitis pigmentosa Retinitis pigmentosa Retinitis pigmentosa Retinitis pigmentosa Retinitis pigmentosa Retinitis pigmentosa Retinoschisis, X-linked 380 Rhizomelic chondrodysplasia punctata type Rhizomelic chondrodysplasia punctata type RTEL1-Related disorders 383 Salla disease 384 Sandhoff disease, infantile,juvenile, and adult forms 385 SCID, autosomal recessive, T-negative/B-positive type 386 Segawa syndrome, autosomal recessive 387 Segawa syndrome, recessive (tyrosine hydroxylase deficiency) 388 Severe combined immunodeficiency due to ADA deficiency 389 Severe combined immunodeficiency, X-;linked 390 Short chain Acyl-CoA deyhdrogenase deficiency 391 Sjogren-Larsson syndrome 392 Smith-Lemli-Opitz syndrome 393 Spastic ataxia Charlevoix-Saguenay type 394 Spastic paraplegia 11, autosomal recessive 395 Spastic paraplegia 7, autosomal recessive 396 Spastic paraplegia 15, autosomal recessive 397 Spinal muscle atrophy (several types) 398 Spinal muscular atrophy 399 Spondylothoracic dysostosis 400 Steroid-Resistant nephrotic syndrome 401 Sulfate transporter-related osteochondrodysplasia 402 Tay-Sachs disease; GM2-gangliosidosis, several forms 403 TGM1-Related autosomal recessive congenital icthyosis Safembryo 8/9

9 404 Thalassemias, alpha- 405 Thalassemias, beta- 406 Thrombocytopenia, congenital amegakaryocytic 407 Thyroid dyshormonogenesis Thyroid dyshormonogenesis Thyroid dyshormonogenesis 2A 410 Thyroid dyshormonogenesis Thyroid dyshormonogenesis Thyroid dyshormonogenesis Thyroid hormone resistance 414 Treacher Collins syndrome Trifunctional protein deficiency 416 TPP1-Related neuronal ceroid lipofuscinosis 417 Tyrosinemia type I 418 Tyrosinemia type II 419 Usher syndrome, type 1B; Deafness, autosomal dominant Usher syndrome, type 1G 421 Usher syndrome, type 2D/Deafness, autosomal recessive Usher syndrome, type 3A 423 USH1C-Related disorders 424 USH2A-Related disorders 425 Ventricular tachycardia,catecholaminergic polymorphic, Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness 427 Very long chain acyl-coa dehydrogenase deficiency 428 VLCAD deficiency Walker-Warburg syndrome, Muscular dystrophy-dystroglycanopathy(congenital with brain and eye 429 anomalies), type A,4 430 Wilson disease 431 Wolman disease (lysosomal acid lipase deficiency) 432 Zellweger syndrome 433 Xeroderma pigmentosum, Group A 434 Xeroderma pigmentosum, Group C 435 X-linkedmental retardation (XLMR) associated with macrocephaly Safembryo 9/9