Here is a list of diseases and gene mutations that can be tested in preimplantation embryos. Affected embryos that otherwise would be discarded can be donated to MStem Cell and used to produce disease-specific hESCs.
- Aarskog
- Achondroplasia
- Adrenoleukodystrophy
- Agammaglobulinemia
- Alagille Syndrome
- Alpha Thalassemia
- Alpha-antitrypsin
- Alport Syndrome
- Amyloidosis
- Aniridia
- Ankylosing spondylitis
- Argininosuccinic Aciduria
- Autoimmune Polyendocrine Syndrome
- Apert/Crouzon/Pfeiffer
- Bardet Biedl Syndrome
- Barth Dilated Cardiomyopathy
- Basal Cell Nevus Syndrome aka gorlin
- Beta Thalassemia
- Birt-Hogge-Dube
- Blepharophimosis-ptosis-epicanthus inversus
- Brachydactyly
- Brachydactyly – Hypertension Syndrome
- Hereditary Breast and Ovarian Cancer
- CADASIL – cerebral arteriopathy, AD, with subcortical infarcts & leukoencephalopathy
- Canavan
- Carnitine – AcylCarn Translocase
- Cerebral Cavernous Malformation
- Ceroid-lipofuscinoses-Batton
- Charcot Marie Tooth
- Cherubism
- Choroideremia
- Chronic Granulomatous Disease
- Ciliary Dyskinesia
- Citrullinemia
- Cleidocranial Dysplasia RUNX2
- Cockayne Syndrome ERCC6
- Congenital Adrenal Hyperplasia CYP21A2
- Congenital Disorder of Glycosylation CGD1
- Congenital Icthyosis (Harlequin) ABCA12
- Cornelia de Lange Syndrome NIPBL
- Cystic Fibrosis CFTR
- Cysteinyl Leukotriene Receptor 1 Deficiency CYSLTR1
- D-Bifunctional Protein Deficiency HSD17B4
- Darier Disease ATP2A2
- Deafness, Autosomal Recessive GJB2 and GJB6
- Denys-Drash Syndrome WT1
- Desmin Storage Myopathy DES
- Duchenne/Becker MD DMD
- Dyskeratosis Congenita DKC1
- Dystonia TOR1A
- Dystrophia Myotonica DMPK
- Ectodermal Dysplasia EDA1 and GJB6
- Ectrodactyly- Clefting Syndrome TP63
- Ehlers Danlos COL3A1
- Emery-Dreifuss Muscular Dystrophy EMD and LMNA
- Epidermolysis Bullosa KRT5, KRT14, LAMB3, ITGB4 and COL7A1
- Fabry Disease GLA
- Facioscapulohumeral dystrophy FRG1
- Factor V Leiden F5
- Familial Adenomatous Polyposis APC
- Familial Dysautonomia IKBKAP
- Familial Exudative Vitreoretinopathy FZD4
- Fanconi Anemia FANCA, FANCC, FANDC2, FANCF, FANCJ and FANCG
- Finnish Nephrosis NPHS1
- Fragile X FMR1
- Galactosemia GALT
- Gaucher Disease GBA
- Gerstman-Straussler Disease PRNP
- Gluteric Acidemia ETFA and GCDH
- Glycogen Storage Disease G6PC, SLC37A4, and GAA
- gm1 gangliosidosis GLB1
- Greig Cephalopolysyndactyly GLI3
- Huntington Disease – Nondisclosing HD
- Hemophagocytic Lymphohistiocytosis HPLH1 and PRF1
- Hemophilia A F8
- Hemophilia B F9
- Hereditary Angioedema C1NH
- Hereditary Hemmorhagic Telangectasia HHT1
- Hereditary Leiomyomatosis FH
- Hereditary Lymphedema FOXC2
- Hereditary Nonpolyposis Colon Cancer MSH2, MLH1
- Hereditary Pancreatitis PRSS1
- HLA HLA-A
- Holt-Oram TBX5
- Homocystinuria CBS
- Hunter Syndrome IDS
- Huntington Disease HD
- Hurler Syndrome IDUA
- Hydrocephalus, X-linked L1CAM
- Hypertrophic Cardiomyopathy LDB3, MYH7, TNNT2, and MYBPC3
- Hypokalemic periodic paralysis SCN4A
- Hypophosphatasia ALPL
- Inclusion Body Myopathy with Early-Onset Paget Disease & Frontotemporal Dementia VCP
- Incontinentia Pigmenti NEMO
- IPEX- immunodysregulation, polyendocrinopathy, and enteropathy, x-linked FOXP3
- Joubert Syndrome INPP5E
- Kallmann Syndrome FGFR1
- KELL Antigen KEL
- Kennedy-Spinal bulbar SMAX1
- Krabbe Disease GALC
- Leber Retinal Congenital Amaurosis -X GUCY2D and CEP290
- Leigh Complex 1 Deficiency c20ORF7
- Leigh Syndrome LRPPRC
- Leukocyte Adhesion Deficiency ITGB2
- Li Fraumeni Syndrome p53
- Limb Girdle MD POMT1 and LMNA
- Long QT Syndrome KCNQ1, SCN5A and KCNE2
- Macular Dystrophy VMD2
- Maple Syrup Urine Disease BCKDHB
- Marfan Syndrome FBN1
- Meckel Gruber MKS1 and MKS3
- MCADD MCADH
- Menkes ATP7A
- Merosin-deficient congenital muscular dystrophy 1A MCD1A
- Metachromatic Leukodystrophy ARSA
- Methylmalonic Acidemia MUT and MMACHC
- Microphthalmia CHX
- Mucolipidosis 2 I-Cell GNPTAB
- Multiple Endocrine Neoplasia MEN1, MEN2A, MEN2B
- Multiple Exostoses EXT1 and EXT2
- Myasthenia Gravis CHRNE
- Myotubular Myopathy MTM
- NEMO immunodeficiency NEMO
- Neurofibromatosis 1 NF1
- Neurofibromatosis 2 NF2
- Niemann-Pick SMPD1 and NPC1
- Nonketotic Hyperglycinemia AMT and GLDC
- Noonan Syndrome KRAS, PTPN11 and SOS1
- Norrie Disease NDP
- Ocular Albinism GPR143
- Oculocutaneous Albinism TYR and OCA2
- Oculodentaldigital Dysplasia GJA1
- Optic Atrophy OPA1
- Ornithine Transcarbamylase Deficiency OTC
- Osteogenesis Imperfecta COL1A2 and COL1A1
- Osteopetrosis OSTM1, CLCN7 and TCIRG1
- OTOF related deafness OTOF
- Pachyonychia Congenita KRT16, KRT6A
- Peutz-Jeghers Syndrome STK11
- Phenylketonuria PAH
- Pheochromocytoma SDHB
- Polycystic Kidney Disease PKD1 and PKD2
- Polycystic Kidney Disease, AR PKHD1
- Pompe Disease GAA
- Pseudohypoparathyroidism GNAS1
- Retinitis Pigmentosa
- Retinoblastoma RB1
- Retinoschesis RS1
- Rett MeCP2
- RhD RHD
- Rothmund-Thomson RECQL4
- Sanfillipo SGSH
- Sathre-Chozen Craniosynostosis TWIST
- Shwachman-Diamond syndrome SBDS
- SCID ADA and IL2RG
- Senior-Loken Syndrome IQCB1
- Sexing X and Y
- Short Rib Polydactyly Syndrome DYNC2H1
- Sickle Cell Anemia HBB
- Simpson-Golabi-Behmel GPC3
- Sjogren-Larsson ALDH3A2
- Smith Lemli Opitz SLOS
- Sorsby Fundus Dystrophy TIMP3
- Spinal Muscular Atrophy SMN1
- Spinocerebellar Ataxia 1 ATNX1
- Spinocerebellar Ataxia 2 ATXN2
- Spinocerebellar Ataxia 3 SCA3
- Spinocerebellar Ataxia 7 ATXN7
- Spondyloepiphyseal Dysplasia COL2A1
- Stickler syndrome COL2A1
- Surfactant Pulmonary B SFTPB
- Tay-Sachs Disease HEXA
- Thrombocytopenia with Beta Thalassemia GATA1
- Torsion dystonia DYT1
- Treacher Collins TCOF1
- Tuberous Sclerosis TSC1 and TSC2
- Ullrich Congenital Muscular Dystrophy COL6A2 and COL6A3
- Usher Syndrome MYO7A
- von Hippel-Lindau VHL
- Waardenburg MITF and PAX3
- Walker-Warburg Syndrome FKTN
- Wiskott-Aldrich WAS
- Wolman Lipase A LIPA
- Zellweger