Preimplantation Genetic Diagnosis (PGD) of embryos can avoid serious hereditary diseases
PGD Screening List
The DNA that makes a baby from two individuals is unique. Couples who are at-risk for an inherited disease can reduce the risk to their offspring with PGD testing. Below are some of the genetic disorders for which successfull screening has been performed. Don’t see your genetic disorder of concern listed? We are testing for and preventing more and more genetic based maladies monthly. Please call or email and one of our genetic specialists will be happy to contact you to discuss our latest technologies.
| Disease | Genes Tested |
|---|---|
| A | |
| Aarskog | FGD1 |
| Achondroplasia | FGFR3 |
| Adrenoleukodystrophy | ABCD1 |
| Agammaglobulinemia | BTK |
| Alagille Syndrome | JAG1 |
| Alpha Thalassemia | HBA |
| Alpha-antitrypsin | AAT |
| Alport Syndrome | COL4A5 |
| Amyloidosis | TTR |
| Aniridia | PAX6 |
| Ankylosing spondylitis | HLA-B27 |
| Argininosuccinic Aciduria | ASL |
| Autoimmune Polyendocrine Syndrome | AIRE |
| Apert/Crouzon/Pfeiffer | FGFR2 |
| Top | |
| B | |
| Bardet Biedl Syndrome | BBS1, BBS10 |
| Barth Dilated Cardiomyopathy | TAZ |
| Basal Cell Nevus Syndrome aka gorlin | PTCH |
| Beta Thalassemia | HBB |
| Birt-Hogge-Dube | FLCN |
| Blepharophimosis-ptosis-epicanthus inversus | FOXL2 |
| Brachydactyly | GDF5 |
| Brachydactyly – Hypertension Syndrome | HTNB |
| Hereditary Breast, Ovarian Cancer | BRCA1, BRCA2 |
| Top | |
| C | |
| CADASIL – cerebral arteriopathy, AD, with subcortical infarcts and leukoencephalopathy | Notch3 |
| Canavan | ASPA |
| Carnitine – AcylCarn Translocase | SLC25A20 |
| Cerebral Cavernous Malformation | CCM1 |
| Ceroid-lipofuscinoses-Batton | PPT1 |
| Charcot Marie Tooth | PMP22, NEFL, GJB1, MPZ |
| Cherubism | SH3BP2 |
| Choroideremia | CHM |
| Chronic Granulomatous Disease | CYBB |
| Ciliary Dyskinesia | DNAH5 |
| Citrullinemia | ASS1 |
| 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 |
| Top | |
| D | |
| D-Bifunctional Protein Deficiency | HSD17B4 |
| Darier Disease | ATP2A2 |
| Deafness, Autosomal Recessive | GJB2, GJB6 |
| Denys-Drash Syndrome | WT1 |
| Desmin Storage Myopathy | DES |
| Duchenne/Becker MD | DMD |
| Dyskeratosis Congenita | DKC1 |
| Dystonia | TOR1A |
| Dystrophia Myotonica | DMPK |
| Top | |
| E | |
| Ectodermal Dysplasia | EDA1, GJB6 |
| Ectrodactyly- Clefting Syndrome | TP63 |
| Ehlers Danlos | COL3A1 |
| Emery-Dreifuss Muscular Dystrophy | EMD, LMNA |
| Epidermolysis Bullosa | KRT5, KRT14, LAMB3, ITGB4, COL7A1 |
| Top | |
| F | |
| Fabry Disease | GLA |
| Factor V Leiden | F5 |
| Familial Adenomatous Polyposis | APC |
| Familial Dysautonomia | IKBKAP |
| Familial Exudative Vitreoretinopathy | FZD4 |
| Fanconi Anemia | FANCA, FANCC, FANDC2, FANCF, FANCJ, FANCG |
| Finnish Nephrosis | NPHS1 |
| Fragile X | FMR1 |
| Top | |
| G | |
| Galactosemia | GALT |
| Gaucher Disease | GBA |
| Gerstman-Straussler Disease | PRNP |
| Gluteric Acidemia | ETFA, GCDH |
| Glycogen Storage Disease | G6PC, SLC37A4, GAA |
| gm1 gangliosidosis | GLB1 |
| Greig Cephalopolysyndactyly | GLI3 |
| Top | |
| H | |
| Huntington Disease – Nondisclosing | HD |
| Hemophagocytic Lymphohistiocytosis | HPLH1, 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, MYBPC3 |
| Hypokalemic periodic paralysis | SCN4A |
| Hypophosphatasia | ALPL |
| Top | |
| I | |
| Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia | VCP |
| Incontinentia Pigmenti | NEMO |
| IPEX- immunodysregulation, polyendocrinopathy, enteropathy, x-linked | FOXP3 |
| Top | |
| J | |
| Joubert Syndrome | INPP5E |
| Top | |
| K | |
| Kallmann Syndrome | FGFR1 |
| KELL Antigen | KEL |
| Kennedy-Spinal bulbar | SMAX1 |
| Krabbe Disease | GALC |
| Top | |
| L | |
| Leber Retinal Congenital Amaurosis -X | GUCY2D, CEP290 |
| Leigh Complex 1 Deficiency | c20ORF7 |
| Leigh Syndrome | LRPPRC |
| Leukocyte Adhesion Deficiency | ITGB2 |
| Li Fraumeni Syndrome | p53 |
| Limb Girdle MD | POMT1, LMNA |
| Long QT Syndrome | KCNQ1, SCN5A, KCNE2 |
| Top | |
| M | |
| Macular Dystrophy | VMD2 |
| Maple Syrup Urine Disease | BCKDHB |
| Marfan Syndrome | FBN1 |
| Meckel Gruber | MKS1, MKS3 |
| MCADD | MCADH |
| Menkes | ATP7A |
| Merosin-deficient congenital muscular dystrophy 1A | MCD1A |
| Metachromatic Leukodystrophy | ARSA |
| Methylmalonic Acidemia | MUT, MMACHC |
| Microphthalmia | CHX |
| Mucolipidosis 2 I-Cell | GNPTAB |
| Multiple Endocrine Neoplasia | MEN1, MEN2A, MEN2B |
| Multiple Exostoses | EXT1, EXT2 |
| Myasthenia Gravis | CHRNE |
| Myotubular Myopathy | MTM |
| Top | |
| N | |
| NEMO immunodeficiency | NEMO |
| Neurofibromatosis 1 | NF1 |
| Neurofibromatosis 2 | NF2 |
| Niemann-Pick | SMPD1, NPC1 |
| Nonketotic Hyperglycinemia | AMT, GLDC |
| Noonan Syndrome | KRAS, PTPN11, SOS1 |
| Norrie Disease | NDP |
| Top | |
| O | |
| Ocular Albinism | GPR143 |
| Oculocutaneous Albinism | TYR, OCA2 |
| Oculodentaldigital Dysplasia | GJA1 |
| Optic Atrophy | OPA1 |
| Ornithine Transcarbamylase Deficiency | OTC |
| Osteogenesis Imperfecta | COL1A2, COL1A1 |
| Osteopetrosis | OSTM1, CLCN7, TCIRG1 |
| OTOF related deafness | OTOF |
| Top | |
| P | |
| Pachyonychia Congenita | KRT16, KRT6AKRT16, KRT6A |
| Peutz-Jeghers Syndrome | STK11 |
| Phenylketonuria | PAH |
| Pheochromocytoma | SDHB |
| Polycystic Kidney Disease | PKD1, PKD2 |
| Polycystic Kidney Disease, AR | PKHD1 |
| Pompe Disease | GAA |
| Pseudohypoparathyroidism | GNAS1 |
| Top | |
| R | |
| Retinitis Pigmentosa | RHO |
| Retinoblastoma | RB1 |
| Retinoschesis | RS1 |
| Rett | MeCP2 |
| RhD | RHD |
| Rothmund-Thomson | RECQL4 |
| Top | |
| S | |
| Sanfillipo | SGSH |
| Sathre-Chozen Craniosynostosis | TWIST |
| Shwachman-Diamond syndrome | SBDS |
| SCID | ADA, IL2RG |
| Senior-Loken Syndrome | IQCB1 |
| Sexing | X, 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 |
| Top | |
| T | |
| Tay-Sachs Disease | HEXA |
| Thrombocytopenia with Beta Thalassemia | GATA1 |
| Torsion dystonia | DYT1 |
| Treacher Collins | TCOF1 |
| Tuberous Sclerosis | TSC1, TSC2 |
| Top | |
| U | |
| Ullrich Congenital Muscular Dystrophy | COL6A2, COL6A3 |
| Usher Syndrome | MYO7A |
| Top | |
| V | |
| von Hippel-Lindau | VHL |
| Top | |
| W | |
| Waardenburg | MITF, PAX3 |
| Walker-Warburg Syndrome | FKTN |
| Wiskott-Aldrich | WAS |
| Wolman Lipase A | LIPA |
| Top | |
| Z | |
| Zellweger | PEX1 |
| Top |