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)
Agammaglobulinaemia
Aicardi Goutieres Syndrome 1 (AGS1)
Alpers Syndrome
alpha thalassaemia/mental retardation syndrome*
Alpha-1-antitrypsin deficiency
Alpha-mannosidosis
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)
Calpainopathy
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
Choroideraemia
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
Cystinosis
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)
Hydrocephalus
Hydroxyisobuyryl CoA Hydrolase Deficiency
Hyper IgM Syndrome - Hypogammaglobulinaemia*
Hyper-IgE Recurrent Infection Syndrome, Autosomal Dominant
Hypochondroplasia
Hypophosphatasia (Infantile/ Perinatal lethal)
Hypophosphatemic Rickets: X-linked dominant (Xlh)
Hypospadias (severe)
Ichthyosis
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