Pre-Implantation Genetic Diagnosis Disorders

Disorders for which PGD is offered:

The number of diseases for which PGD is capable of diagnosing is growing daily as virtually any disease for which a specific single mutation is known can be tested for.  This is the current list but keep in mind that it is growing all the time.

Achondroplasia (FGFR3)
ADA (Adenosine Deaminase) deficiency
Adrenal hyperplasia
Adrenoleukodystrophy (ABCD1)
Agammaglobulinemia-Bruton (TyrsKnse)
Alpha Thalassemia (HBA1)
Alpha-Antitrypsin (AAT)
Alport Syndrome (COL4A5)
Alzheimer (very early onset-PSEN1)
Beta Thalassemia (HBB)
Bloom Syndrome (Blm)
Canavan Disease (ASPA)
Charcot-Marie-Tooth, type IA
Charcot-Marie-Tooth Neuropathy - 1B
Charcot Marie Tooth Neuropathy - 2E
Choroideremia (CHM)
Chronic Granulomatous Dz (CYBB)
Citrullinemia (ASS)
Cleidocranial Dysplasia (RUNX2)
Congen. Adrenal Hyperplasia (CYP31A2)
Congen. Erythropoietic Porphyria (UROS)
Crigler Najjar (UGT1A1)
Cystic Fibrosis (CFTR)
Darier Disease (ATP2A2)
Diamond Blackfan (DBA-RSP19)
Diamond Blackfan (DBA2)
Duchenne muscular dystrophy (DMD)
Dystrophy Myotonica (DMPK)
Emery-Dreifuss Muscular Dystrophy
Epidermolysis bullosa
Epidermolytic Hyperkeratosis (KRT10) Factor
13 Deficiency (F13A1)
Familial Adenomatous Polyposis (APC)
Familial Dysautonomia (IKBKAP)
Fanconi Anemia A (FANCA)
Fanconi Anemia C (FANCC)
Fanconi Anemia F (FANC F)
Fanconia Anemia G (FANCG)
Fragile X (FMR1)
Friedreich Ataxia I (FRDA)
Gaucher Disease (GBA)
Glycogen Storage disease, type 1A
Glutaric Acidemia - 2A
Hemophilia A (F8)
Hemophilia B (F9)
HLA typing (some cases)
HLA DRBeta1 Class II MHC (HLA DRB1*)
HLA-A Class I MHC (HGNC HLA-A)
Hunter syndrome (IDS)
Huntington Disease (HD)
Hurler Syndrome (MPSI-IDUA)
Hyper IgM (CD40-ligand; TNFSF5)
Hypophosphatasia (ALPL)
Incontinentia Pigmenti (KBKG-NEMO)
Kennedy Disease (AR)
Krabbe (GALC)
LCHAD (Long chain 3-hydroxyCoA Dehydrogenase Deficiency)
Lesch-Nyhan (HPRT1)
Leukemia, Acute Lymphocytic (for HLA)
Leukemia, Acute Myelogenous (for HLA)
Leukemia, Chronic Myelogenous (for HLA)
Leukocyte Adhesion Deficiency (ITGB2)
Li-Fraumeni Syndrome (TP53)
Lymphoproliferative Disorder (X-linked)
Marfan Syndrome (FBN1)
Menkes (ATP7A)
Metachromatic Leukodystrophy (ARSA)
Mucolipidosis 2 (I-Cell)
Multiple Epiphyseal Dysplasia
Myotonic dystrophy
Myotubular myopathy
Neurofibromatosis (NF1 & NF2)
Niemann-Pick type C (NPC1)
Ornithine Transcarbamylase Deficiency (OTC)
Osteogenis Imperfecta (COL1A1)
Pachyonychia Congenita (KRT16 & KRT6A)
Periventricular Heteropia (PH)
Phenylketonuria
Polycystic Kidney Disease (AR-PKD1) Polycystic
Kidney Disease (PKD1) Retinoblastoma 1 (RB1)
Retinitis pigmentosa
Rhesus blood group D (RHD)
Rhizomelic Chondrodysplasia Puncta RCDP1
Sacral Agenesis (HLXB9)
Sanfilippo A (MPSIIIA)
Sanhoff disease
SCID-X1 (SevereCmbndImmuneDefic (IL2RG)
Sexing for X-linked Dz (AMELX/Y; ZFX/Y)
Shwachman-Diamond Syndrome (SBDS)
Sickle Cell (HBB)
Smith-Lemli-Opitz (SLOS)
Spinal muscular atrophy (SMN1)
Spinocerebellar Ataxia-3 (SCA3)
Spinocerebellar ataxia2 (SCA2)
Tay-Sachs (HEXA)
Treacher Collins (TOCF1)
Tuberous Sclerosis 1 (TSC1)
Von-Hippel Lindau
Wiskott-Aldrich Syndrome (WAS)
X-linked hydrocephalus