Wednesday, 15 May 2013

List of PGD conditions

There are more than 100 genetic conditions that will require PGD test.

 5 Alpha Reductase Deficiency (5ARD) insofar as that condition affects males, with simultaneous sex determination
Acute Intermittent Porphyria
Acute Recurrent Autosomal Recessive Rhabdomyolysis (ARARRM)
Adrenoleukodystrophy (Adrenomyeloneuropathy)
Aicardi Goutieres Syndrome 1 (AGS1)
Alpers Syndrome
alpha thalassaemia/mental retardation syndrome*
Alpha-1-antitrypsin deficiency
Alports Syndrome
Alzheimers Disease - early onset
Amyotrophic Lateral Sclerosis 1 (ALS1)
Anderson Fabry Disease
Androgen Insensitivity Syndrome
Angelman Syndrome (UBE3A gene only)
Aplastic anaemia - severe*
Argininosuccinic Aciduria
Arrhythmogenic Right Ventricular Cardiomyopathy/ Dysplasia (ARVC/D), Autosomal Dominant
Ataxia Telangiectasia
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Autosomal Dominant Retinitis Pigmentosa
Autosomal Recessive Dopa Responsive Dystonia
Autosomal Recessive Severe Combined Immunodeficiency with Bilateral Sensorineural Deafness
Bardet-Biedl syndrome (BBS)
Barth Syndrome
Battens Disease (infantile)
Beta Hydroxyisobutyryl CoA Hydrolase Deficiency (Methacrylic Aciduria)
Beta Thalassaemia*
Bethlem Myopathy
Bilateral Frontoparietal Polymicrogyria
Birt-Hogg-Dubé Syndrome
Branchio-Oto-Renal Syndrome (BOR)
BRCA 1 (increased susceptibility to breast cancer)
Breast Ovarian Cancer Familial Susceptibility (BRCA2)
Bruton Agammaglobulinemia Tyrosine Kinase (BTK)
Canavan Disease
Cardiac Valvular Dysplasia
Carney Complex
Catecholaminergic Polymorphic Ventricular Tachychardia 2 (CPVT2)
Central Core Disease of Muscle
Cerebral Autosomal Dominant Arteriopathy with Sub cortical infarcts and Leukoencephalopathy (CADASIL)
Cerebral Cavernous Malformations (CCM)
Charcot Marie Tooth Disease
Charcot Marie Tooth Disease Type 2
Charcot Marie Tooth Disease, demyelinating, type 1A (CMT1A)
Chondrodysplasia Punctata
Chromosomal rearrangements (various)
Chronic Granulomatous Disease
Citrullinaemia type 1
Classical Ehlers Danlos Syndrome
Coffin-Lowry Syndrome
Congenital Adrenal Hyperplasia (21 hydroxylase deficiency)
Congenital Fibrosis of the Extraocular Muscles
Congenital Stationary Night Blindness
Conradi-Hunermann-Happle Syndrome
Cowden syndrome (CS)/PTEN hamartoma tumour syndrome (PHTS)
Crouzon Syndrome
Cystic Fibrosis
Czech dysplasia, metatarsal type also known as Progressive pseudorheumatoid dysplasia with hypoplastic toes
Dentatorubral-Pallidoluysian Atrophy (DRPLA)
Diamond Blackfan Anaemia*
Dominant Dystrophic Epidermolysis Bullosa
Donohue Syndrome
Downs syndrome
Dravet Syndrome
Dyskeratosis congenita (Male embryos only)
Dystonia 1 Torsion Autosomal Dominant (DYT1)
Early-onset Alzheimer disease Type 3 & 4
Ectodermal dysplasia (Hypohidrotic)
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome (EEC)
Ehlers-Danlos Type IV
Elastin (ELN)-related Supravalvular Aortic Stenosis
Ellis-Van Crevald Syndrome
Epilepsy, female restricted, with mental retardation (EFMR)
Facioscapulohumeral Dystrophy
Factor XIII deficiency
Familial Adenomatous polyposis coli (FAP)
Familial Hemophagocytic Lymphohistiocytosis (FHL)
Familial Paranganglioma Syndrome (PGL1)
Fanconis Anaemia A*
Fanconis Anaemia C*
Fragile X Syndrome
Fraser Syndrome
Frontotemporal Dementia
Gangliosidosis (GM1)
Gaucher Disease Type III
Gaucher's Disease (Type II)
Glutaric Acidemia (aciduria)
Glycogen Storage Disease Type 1A
Gonadal mosaicism
Greig's Cephalopolysyndactyly
Haemophilia A
Haemophilia B
Harlequin Ichthyosis
Hereditary diffuse gastric cancer
Hereditary Haemorrhagic Telangiectasia or Rendu-Osler-Weber Syndrome
Hereditary motor and sensory neuropathies
Hereditary Nonpolyposis Colorectal Cancer: Lynch Syndrome (for all subtypes)
Holt Oram Syndrome
Homozygous familial hypercholesterolaemia
Hunters Syndrome
Huntingtons Disease (Huntingtons Chorea)
Hydroxyisobuyryl CoA Hydrolase Deficiency
Hyper IgM Syndrome - Hypogammaglobulinaemia*
Hyper-IgE Recurrent Infection Syndrome, Autosomal Dominant
Hypophosphatasia (Infantile/ Perinatal lethal)
Hypophosphatemic Rickets: X-linked dominant (Xlh)
Hypospadias (severe)
Idiopathic Arterial Calcification of Infancy
Incontinentia Pigmenti
Juvenile Retinoschisis
Kearns Sayre Syndrome (KSS)/ Pearsons Marrow-Pancreas Syndrome (PMPS)
Krabbe Disease
L–2-Hydroxyglutaric aciduria
Leber Congenital Amaurosis
Leber's hereditary optic neuropathy / Lebers Optic atrophy
Leigh Syndrome (Infantile Subacute Necrotising Encephalopathy)
Leigh's (subacute necrotising encephalopathy of childhood)
Lenz syndrome
Lesch Nyan Syndrome
Leukocyte Adhesion Deficiency (Type I)*
Li-Fraumeni Syndrome
Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
Long QT Syndrome Types 1, 2, 3, 5 & 6


  1. I agree with you, but I'm curious: The most common objection I hear from people I know who are pro-life is that an impotent couple who wants a child can get the embryo implanted in herself. I maintain that it's wrong, but the recourse I fall back into is natural law theory when asked to explain (which is perfectly fine, but in my experience not that convincing). So are there any more concrete reasons to explain why that's wrong? Here i suggest peoples to go INDIA for IVF surrogacy, then you must search for Surrogacy India, Surrogate mother India, IVF India, IVF clinic India & IVF cost india. I found Go Surrogacy for this treatment in India. Hope you also like these.

  2. There are a couple of different types of high-tech selection. Pre-implantation Genetic Diagnosis, or PGD, is the only 100% certain way to choose your baby's gender.

    PGD Preimplantation Genetic Diagnosis