Evolve provides advanced and accurate genetic screening for the most medically relevant genetic disorders that can significantly impact the health of an individual.  The genetic disorders can be categorized into 3 groups.  The categories include genetic disorders that are:

  • Managed in early life with treatment (e.g. PKU and Wilson Disease)
  • Chronic and requires lifelong management (e.g. Sickle Cell Anemia and Fragile X Syndrome)
  • Life-threatening with no curative treatments (e.g. Cystic Fibrosis and Duchenne Muscular Dystrophy)

Please note, some genetic disorders may belong to one, two, or all three categories based on the natural and clinical history of the disease.

Genetic Disorders

Achromatopsia Alpha-1 Antitrypsin Deficiency
Alpha-Mannosidosis Alpha-Thalassemia
Andermann Syndrome Argininosuccinate Lyase Deficiency
Aspartylglycosaminuria Ataxia With Vitamin E Deficiency
Ataxia-Telangiectasia Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
Bardet-Biedl Syndrome, Type 1 Bardet-Biedl Syndrome, Type 10
Bernard–Soulier Syndrome, Type B Bernard–Soulier Syndrome, Type C
Beta-Hemoglobinopathies (including Sickle Cell and Beta-Thalassemia) Beta-Ketothiolase Deficiency
Biotinidase Deficiency Bloom Syndrome
Canavan Disease Carnitine Deficiency, Primary
Carnitine Palmitoyltransferase IA Deficiency Carnitine Palmitoyltransferase II Deficiency
Cartilage-Hair Hypoplasia Choroideremia
Citrullinemia Type 1 Cohen Syndrome
Combined Pituitary Hormone Deficiency Congenital Adrenal Hyperplasia (CAH)
Congenital Disorder of Glycosylation Type Ia Congenital Disorder of Glycosylation Type Ib
Costeff Optic Atrophy Syndrome Cystic Fibrosis
Cystinosis D-Bifunctional Protein Deficiency
Dihydrolipoamide Dehydrogenase Deficiency (a.k.a Maple Syrup Urine Disease Type 3) Dihydropyrimidine Dehydrogenase Deficiency
Duchenne/Becker Muscular Dystrophy Fabry Disease
Factor XI Deficiency Familial Dysautonomia
Familial Mediterranean Fever Fanconi Anemia Type C
Finnish Nephrosis (a.k.a Nephrotic Syndrome Type 1) Fragile X Syndrome
Fumarase Deficiency Galactosemia
Gaucher Disease Glaucoma, Primary Congenital
Glucose-6-Phosphate Dehydrogenase Deficiency Glutaric Acidemia Type 1
Glycogen Storage Disease Type Ia (von Gierke) Glycogen Storage Disease Type Ib (von Gierke)
Glycogen Storage Disease Type III (Cori/Forbes) Glycogen Storage Disease Type V (McArdle)
GRACILE Syndrome Growth Hormone Deficiency, Isolated
Hearing Loss, Non-syndromic (a.k.a Connexin 26) Hearing Loss, Non-syndromic (a.k.a Connexin 30)
Heme Oxygenase 1 Deficiency Hemochromatosis
Hemophilia B Hereditary Fructose Intolerance
Herlitz Junctional Epidermolysis Bullosa, LAMA3-Related Herlitz Junctional Epidermolysis Bullosa, LAMB3-Related
Herlitz Junctional Epidermolysis Bullosa, LAMC2-Related Homocystinuria, CBS-deficient
Hydatidiform Mole, Recurrent Hyperinsulinism
Hyperoxaluria, Primary Type 1 Hyperoxaluria, Primary Type 2
Hypohidrotic Ectodermal Dysplasia Hypophosphatasia
Inclusion Body Myopathy 2 Isovaleric Acidemia
Joubert Syndrome 2 Krabbe Disease
Limb-Girdle Muscular Dystrophy Type 2A Limb-Girdle Muscular Dystrophy Type 2C
Limb-Girdle Muscular Dystrophy Type 2D Limb-Girdle Muscular Dystrophy Type 2E
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Maple Syrup Urine Disease Type 1A
Maple Syrup Urine Disease Type 1B Maple Syrup Urine Disease Type 2
Medium Chain Acyl-CoA Dehydrogenase Deficiency Megalencephalic Leukoencephalopathy With Subcortical Cysts
Megaloblastic Anemia Syndrome Metachromatic Leukodystrophy
Methlymalonic Acidemia, cb1A-Type Methlymalonic Acidemia, cblB-Type
Methlymalonic Acidemia, mut-Type Methylmalonic Acidemia and Homocystinuria, cbIC-Type
Mucolipidosis Type II/IIIA Mucolipidosis Type IV
Mucopolysaccharidosis Type I (Hurler) Mucopolysaccharidosis Type II (Hunter)
Mucopolysaccharidosis Type IIIA (Sanfilippo A) Mucopolysaccharidosis Type IIIB (Sanfilippo B)
Mucopolysaccharidosis Type IVA (Morquio A) Mucopolysaccharidosis Type IVB (Morquio B)
Mucopolysaccharidosis Type VI (Maroteaux-Lamy) Mucopolysaccharidosis Type VII (Sly)
Muscle-Eye-Brain Disease Nemaline Myopathy
Nephrotic Syndrome Type 2 Neuronal Ceroid Lipofuscinosis Type 1
Neuronal Ceroid Lipofuscinosis Type 2 Neuronal Ceroid Lipofuscinosis Type 3
Neuronal Ceroid Lipofuscinosis Type 5 Neuronal Ceroid Lipofuscinosis Type 8 (a.k.a Northern Epilepsy)
Niemann-Pick Disease Type A & B (a.k.a. Acid Sphingomyelinase Deficiency) Niemann-Pick Disease Type C1
Niemann-Pick Disease Type C2 Nijmegen Breakage Syndrome
Oculocutaneous Albinism Type 1 Ornithine Transcarbamlyase Deficiency
Pantothenate Kinase-associated Neurodegeneration Papillon-Lefevre Syndrome (also Haim-Munk Syndrome)
Pendred Syndrome Phenylalanine Hydroxylase Deficiency (PKU)
Polycystic Kidney Disease, Autosomal Recessive Polyglandular Autoimmune Syndrome Type 1
Glycogen Storage Disease: Type II/Pompe Disease Progressive Pseudorheumatoid Dysplasia
Pycnodysostosis Retinoschisis, Juvenile
Rett Syndrome Rhizomelic Chondrodysplasia Punctata Type 1
Salla Disease (a.k.a Sialic Acid Storage Disease) Sandhoff Disease
Segawa Syndrome Short Chain Acyl-CoA Dehydrogenase Deficiency
Sjogren-Larsson Syndrome Skeletal Dysplasias, SLC26A2-related
Smith-Lemli-Opitz Syndrome Spinal Muscular Atrophy
Tay-Sachs Disease (a.k.a. Hexosaminidase A Deficiency) Tricho-Hepato-Enteric Syndrome
Tyrosinemia Type I Usher Syndrome Type 1F
Usher Syndrome Type 3 Very Long Chain Acyl-CoA Dehydrogenase Deficiency
Walker-Warburg Syndrome, Type 4 (also Fukuyama Congenital Muscular Dystrophy) Werner Syndrome
Wilson Disease Woolly Hair/Hypotrichosis Syndrome
Zellweger Spectrum Disorder Type 1 (a.k.a Infantile Refsum Disease)

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