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PREIMPLANTATION GENETIC DIAGNOSIS MONOGENIC DISEASE PROGRAM — AUTOSOMAL RECESSIVE DISEASE Spinal muscular atrophy Cystic fibrosis Beta thalassemia Sickle cell anemia Autosomal recessive polycystic kidney disease Congenital disorder of glycosylation type 1A Congenital disorder of glycosylation type 1E Nonsyndromic hearing loss and deafness Metachromatic leukodystrophy Congenital adrenal hyperplasia Gaucher disease Tyrosinemia type I Familial Hemophagocytic Lymphohistiocytosis PCCA-Related Propionic Acidemia PCCB-Related Propionic Acidemia Mucopolysaccharidosis Type I Mucopolysaccharidosis IIIA LCHAD deficiency Autosomal Recessive Osteopetrosis Severe Combined Immune Deficiency Fanconi Anemia, Complementation group A Fanconi Anemia, Complementation group E Dystrophic Epidermolysis Bullosa Junctional Epidermolysis Bullosa Juvenile Hyaline Fibromatosis Spinal Muscular Atrophy with Respiratory Distress 1 Niemann-Pick disease type C Hypomagnesemia, Renal, with Ocular Involvement Pompe disease Zellweger syndrome Phenylketonuria Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter Mevalonicaciduria Pyruvate Kinase Deficiency Lipoprotein Lipase Deficiency Bardet-Biedl syndrome GENE SMN1 CFTR HBB HBB PKDH1 PMM2 DPM1 GJB2 GJB6 ARSA CYP21A2 GBA FAH PRF1 PCCA PCCB IDUA SGSH HADHA TCIRG1 RAG2 FANCA FANCE COL7A1 LAMB3 ITGB4 LAMC2 CMG2 IGHMBP2 NPC1 CLDN19 GAA DBP PAH EIF2B3 MVK PKLR LPL BBS1 — AUTOSOMAL DOMINANT DISEASE Myotonic Dystrophy Type 1 Huntington disease Autosomal dominant Polycystic kidney disease Neurofibromatosis 1 Lynch syndrome Spinocerebellar Ataxia Multiple Endocrine Neoplasia Type 2A Charcot-Marie-Tooth type 1A Hereditary Neuropathy with Liability to Pressure Palsies Charcot-Marie-Tooth type 2A Charcot-Marie-Tooth type J/1B Charcot-Marie-Tooth type 2K Familial adenomatous polyposis Hereditary Multiple Osteochondromatosis, Type I Facioscapulohumeral dystrophy Tuberous Sclerosis 1 Tuberous Sclerosis 2 Von Hippel Lindau disease Marfan Syndrome Hereditary Hemorrhagic Telangiectasia Hyperkalemic Periodic Paralysis RhD isoimmunization Duffy isoimmunization Kell isoimmunization HPA Isoimmunization Spastic Paraplegia 3A Aniridia Blepharophimosis, Ptosis, and Epicanthus Inversus Treacher collins Ehlers-Danlos Syndrome Type I Optic Atrophy Type 1 Osteogenesis imperfecta Familial Amyloid Polyneuropathy Type I Holt-oram Syndrome Blackfan Diamond Anemia Central core disease Myotonia Congenita, Autosomal Dominant (Thomsen) Retinitis Pigmentosa Hidrotic Ectodermal Dysplasia 2 Emery-Dreifuss Muscular Dystrophy GENE DMPK HD PKD1 PKD2 NF1 MLH1 MSH2 SCA1 SCA2 SCA3 SCA6 RET PMP22 MFN2 MPZ GDAP1 APC EXT1 FSHD TSC1 TSC2 VHL FBN1 ENG SCN4A RhD Duffy Kell HPA5 SPG3A PAX6 FOXL2 TCOF1 COL5A1 OPA1 COL1A1 TTR TBX5 RSP19 RYR1 CLCN1 RHO GJB6 LMNA Early-Onset Primary Dystonia Cadasil Supravalvular Aortic Stenosis Papillary Renal Carcinoma Hereditary Hearing Loss and Deafness Saethre-Chotzen Syndrome Epidermolysis Bullosa Simplex Pseudoachondroplasia Familial Cerebral Cavernous Malformation Craneofacial Dysostosis Hereditary Paraganglioma-Pheochromocytoma Syndrome Blau syndrome Best Vitelliform Macular Dystrophy Familial Hypertrophic Cardiomyopathy Familial Hypertrophic Cardiomyopathy Limb-Girdle Muscular Dystrophy Parkinson disease Breast-ovarian cancer, familial Li-Fraumeni syndrome Adult syndrome Caveolinopathy — TOR1A NOTCH3 ELN MET MIR96 TWIST KRT5 COMP KRIT1 FGFR2 SDHD CARD15 VMD2 MYBPC3 TNNT2 LGMD1B SNCA BRCA2 TP53 P63 CAV3 X-LINKED DISEASE Fragile X Syndrome Hemophilia A Hemophilia B Duchenne/Becker Muscular Dystrophy Alport syndrome Adrenoleukodystrophy Incontinentia Pigmenti Hypohidrotic Ectodermal Dysplasia Ornithine Transcarbamylase Deficiency Mucopolysaccharidosis Type II Agammaglobulinemia X-linked X-Linked Mental Retardation Associated with Fragile Site FRAXE Norrie disease Hyper IgM Syndrome X-Linked Juvenile Retinoschisis X-Linked Spinal and bulbar muscular atrophy Myotubular Myopathy X-Linked Charcot Marie tooth X-linked Chronic Granulomatous Disease x-linked Choroideremia Hypophosphatemia x-linked Lesch Nyhan syndrome GENE FMR1 FVIII FIX DMD COL4A5 ABCD1 IKBKG EDA OTC IDS BTK FRAXE NDP CD40L XLRS AR MTM1 GJB1 CYBB CHM PHEX HPRT MECP2 Duplication Syndrome Retinitis pigmentosa Leri-Weill Dyschondrosteosis Lowe Syndrome MECP2 RPGR SHOX OCRL
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