The DNA that two individuals mix together to make a baby is also unique. Genesis Genetics Institute is known globally for our ability to test for some of the rarest genetic conditions, as well as the more common ones. Couples who are at-risk for essentially any serious inherited disease (we will not test for trivial traits) can reduce this risk to their offspring by working with our team.
Below are some of the genetic disorders for which we have successfully performed PGD. This is in no way a complete list of diseases for which PGD is possible; we add to this list every week. We can test for essentially any genetic disease that has been identified by a mutation report. If the disease of concern in your family is not listed below, contact us to determine if PGD is possible.
Genetic Disorder (Gene)
Aarskog (X-FGD1)
Achondroplasia (FGFR3)
Actin-Nemalin Myopathy (ACTA1)
Adenomatous Polyposis Coli (FAP-APC)
Adrenoleukodystrophy (ABCD1)
Agammaglobulinemia-Bruton (BTK)
Alagille Syndrome (JAG1)
Aldolase A deficiency (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)
Aniridia (PAX6)
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)
Birt-Hogg-Dube (FLCN)
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)
Dyskeratosis Congenita (DKC1)
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
Gerstmann-Straussler Disease (PRNP)
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)
HLA DRBeta1 Class II MHC (HLA DRB1*)
HLA-Histocompatability, Transplantation Matching (HLA)
Holt-Oram (TBX5)
Homocystinuria (CBS)
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 Rickets
Icthyosis, X-Steroid Sulf Def
Icthyosis.Congenital, Harlequin (ABCA12)
Incontinentia Pigmenti (NEMO)
Joubert Syndrome (AHI1)
KELL Antigen (KEL)
Kennedy-Spinal bulbar (AR)
Krabbe (GALC)
Leber Retinal Congenital Amaurosis-I (GUCY2D)
Leber Retinal Congenital Amaurosis-X (CEP290)
Leiomyomatosis-Hereditary (FH)
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)
Limb Girdle MD (FKTN)
Long-Chain-AcylCoA Dehydrogenase (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)
Noonan (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)
Pancreatitis-Hereditary (KEL)
Paraganglioma-Nonchromaffin (SDHB)
Pelizaeus-Merzbacher, X-linked (PLP1)
Periventricular Heteropia (FLNA)
Pendred Syndrome (SLC264A)
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)
Rett Syndrome (MECP2)
Rhesus blood group D (RHD)
Rhizomelic Chondrodysplasia Punctata (RCDP1)
Rothmund-Thompson Syndrome (RECQLA)
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)
Simpson-Golabi-Behmel Syndrome (GPC3)
Sjogren-Larsson (ALDH3A2)
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)
Thrombocytopenia with Beta-Thalassemia (GATA1)
Torsion dystonia (DYT1)
Treacher Collins (TCOF1)
Transplantation-BoneMarrow-StemCell (HLA locus)
Tuberous Sclerosis 1 (TSC1)
Tuberous Sclerosis 2 (TSC2)
Usher Syndrome (MYO7A)
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)
