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PGD: List of genetic diseases PDF Print E-mail
Below is a listing of single gene disorders have been seen at my pgd laboratory. 
 
 
Single Gene Disorder Tested Link Set Up PGD Pregnancy Baby
Achondroplasia MD
X
     
Adenosine Aminohydrolase (ADA) Deficiency MD
X
X
   
Adrenoleukodystrophy (X-Linked ALD) MD
X
X
X
X
Alpers Syndrome MD
X
     
Alpha 1 Antitrypsin Deficiency MD
X
X
   
Alport Syndrome MD
X
X
   
Aneuploidies by STR Genotyping MD
X
X
X
X
Angioedema, Hereditary MD
X
X
   
Ataxia-Telangiectasia (AT) MD
X
X
X
X
Basal Cell Nevus Syndrome (Gorlin Syndrome) MD
X
X
X
X
Blepharophimosis, Ptosis, and Epicanthus Inversus (BPES) MD
X
X
X
X
Blood Group - Kell Cellano System MD
X
X
X
X
Brain Tumor, Posterior Fossa of Infancy, Familial MD
X
X
   
Canavan Disease MD
X
X
   
Ceriod Lipofuscinosis, Neuronal 2, LAE Infantile, CLN2 (Batten Disease) MD
X
X
   
Charcot-Marie-Tooth Disease Type 1A (CMT1A) MD
X
X
X
X
Charcot-Marie-Tooth Disease Type 1B (CMT1B) MD
X
X
   
Charcot-Marie-Tooth Disease, Axonal, Type 2E MD
X
X
X
X
Charcot-Marie-Tooth Disease, Type X-Linked, 1 (CMTX1) MD
X
X
   
Choroideremia (CHM) MD
X
X
X
X
Citrullinemia MD
X
X
   
Colon Cancer, Hereditary Nonpolyposis, Type1 MD
X
X
X
X
Congenital Adrenal Hyperplasia (CAH) MD
X
X
X
X
Connexin 26(Neurosensory Deafness) MD
X
X
   
Crouzon Syndrome (Craniofacial Dysostosis) MD
X
X
X
X
Currarino Triad MD
X
X
X
X
Cystic Fibrosis (CF) MD
X
X
X
X
Cystinosin (CTNS) MD
X
X
   
Darier-White Disease (DAR) MD
X
X
X
X
Diamond-Blackfan Anemia (and HLA) MD
X
X
   
Dyskeratosis Congenita, X-Linked MD
X
     
Dystonia Torsion (DYT1) MD
X
X
X
X
Early-Onset Familial Alzheimer Disease MD
X
X
X
X
Ectodermal Dysplasia 1, Anhidrotic (ED1) MD
X
X
   
Ectodermal Dysplasia, Hypohidrotic (EDAR) MD
X
X
X
 
Emery-Dreifuss Muscular Dystropy MD
X
X
X
X
Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive (EDMD3) MD
X
X
X
X
Epidermolysis Bullosa Dystrophica, Pasini MD
X
X
X
 
Epiphyseal Dysplasia, Multiple, 1 (EDM1) MD
X
X
X
 
Exostoses, Multiple, Type 1 MD
X
X
   
Exudative Vitreoretinopathy, Familial, Autosomnal Dominant MD
X
     
Fabry Disease MD
X
X
X
X
Facioscapulohumeral Muscular Dystrophy MD
X
X
X
 
Familial Adenomatosis Polyposis MD
X
X
X
X
Familial Amyloid Polyneuropathy MD
X
X
   
Familial Dysautonomia (Riley-Day Syndrome, DYS) MD
X
X
X
X
Fanconi Anemia A (and HLA) MD
X
X
X
X
Fanconi Anemia C (and HLA) MD
X
X
X
X
Fanconi Anemia F (and HLA) MD
X
X
   
Fanconi Anemia J (and HLA) MD
X
X
   
Fragile-X A Syndromes (FMR1) MD
X
X
X
X
Fragile-X E Syndromes MD
X
     
Friederich Ataxia 1 (FRDA) MD
X
     
Galactosemia MD
X
X
   
Gaucher Disease, Type 1 MD
X
X
X
X
Glycogen Storage Disease, Type VI MD
X
X
   
Hemophilia A MD
X
X
X
X
Hemophilia B MD
X
X
X
X
HLA Matching Genotyping MD
X
X
X
X
Holoprosencephaly MD
X
X
X
X
Hoyeraal-Hreidarsson Syndrome (HHS) MD
X
X
X
X
Hunter Syndrome (Mucopolysaccharidosis II) MD
X
X
X
X
Huntington Chorea MD
X
X
X
X
Hurler Syndrome (Mucopolysaccharidosis IH) MD
X
X
X
X
Hydrocephalus, X-Linked (L1CAM) MD
X
X
   
Hypophosphatasia (Infantile) MD
X
X
X
 
Immunodeficiency with Hyper-IgM, Type 1 MD
X
X
X
X
Incontinentia Pigmenti (IP) MD
X
X
X
X
Krabbe Disease MD
X
X
X
 
Leukoencephalopathy with Vanishing White Matter MD
X
X
   
Li-Fraumeni Syndrome (Mutations in p53 Gene) MD
X
X
X
X
Long-Chain Hydroxyacyl-CoA Dehydrogenase (LCHAD) MD
X
X
X
X
Marfan Syndrome MD
X
X
X
X
Medium-Chain Hydroxylacyl-CoA Dehydrogenase (MCAD) MD
X
X
   
Metachromatic Luekodystropy MD
X
     
5,10-@Methylenetetrahydrofolate Reductase (MTHFR) MD
X
X
   
Microcoria-Congenital Nephrosis Syndrome MD
X
     
Multiple Endocrine Neoplasia, 1(MEN1) MD
X
     
Muscular Dystrophy, Duchenne Type (DMD) MD
X
X
X
X
Muscular Dystrophy, Becker Type (BMD) MD
X
X
X
X
Myotonic Dystrophy (DM1) MD
X
X
X
X
Myotubular Myopathy 1 MD
X
X
X
X
Neurofibromatosis Type 1 MD
X
X
X
X
Neurofibromatosis Type 2 MD
X
X
X
X
Norrie Disease MD
X
X
   
Ocular Albinism, X-Linked MD
X
X
X
 
Oculocutaneous Albinism Type 1 MD
X
X
   
Oculocutaneous Albinism Type 2 MD
X
X
X
X
Omenn Syndrome MD
X
X
X
X
Optic Atrophy MD
X
X
   
Ornithine Carbamoyltransferase (OTC) Deficiency MD
X
X
X
X
Osteogenesis Imperfecta MD
X
X
X
X
Osteopetrosis, Malignant, Autosomal Recessive MD
X
X
   
Pelizaes-Merzbacher Disease MD
X
X
X
X
Phenylketonuria MD
X
X
X
X
Polycystic Kidney Disease Autosomal Dominant Type 1 MD
X
X
X
X
Polycystic Kidney Disease Autosomal Dominant Type 2 MD
X
X
X
X
Polycystic Kidney Disease Autosomal Recessive ARPKD MD
X
X
X
X
Popliteal Pterygium Syndrome MD
X
X
   
Proprionic Acidemia MD
X
     
Retinitis Pigmentosa MD
X
X
   
Retinoblastoma MD
X
X
X
X
Rett Syndrome MD
X
X
   
Rhesus Factor Compatibility (RH Factor) MD
X
     
Sandhoff Disease MD
X
X
X
X
Sickle Cell Anemia MD
X
X
X
X
Smith-Lemli-Opitz Syndrome MD
X
X
   
Spinal Muscular Atrophy (SMA) MD
X
X
X
X
Spinocerebellar Ataxia Type 1 MD
X
X
X
X
Spinocerebellar Ataxia Type 2 MD
X
X
X
X
Spinocerebellar Ataxia Type 3, Machado-Joseph Disease (MJD) MD
X
X
X
X
Spinocerebellar Ataxia Type 6 MD
X
X
   
Spinocerebellar Ataxia Type 7 MD
X
X
   
Stickler Syndrome MD
X
X
X
 
Succinic Semialdehyde Dehydrogenase Deficiency MD
X
X
X
X
Symphalangism MD
X
X
X
X
Tay-Sachs Disease (TSD) MD
X
X
X
X
Thalassemia Alpha MD
X
X
X
X
Thalassemia Beta MD
X
X
X
X
Treacher Collins Syndrome MD
X
X
X
X
Tuberous Sclerosis Type 1 MD
X
X
   
Tuberous Sclerosis Type 2 MD
X
X
   
Von Hippel-Lindau Syndrome (VHL) MD
X
X
X
X
Wiscott Aldrich Syndrome MD
X
X
   
Zellweger Syndrome MD
X
X
X
X
Last Updated ( Tuesday, 04 March 2008 )