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 Hypoaldosteronism
Adrenoleukodystrophy Hypohidrotic Ectodermal Dysplasia
Alkaptonuria Hypophosphatasia
Alpha-1 Antitrypsin Deficiency Inclusion Body Myopathy 2
Alpha-Mannosidosis Isovaleric Acidemia
Alpha-Thalassemia Joubert Syndrome 2
Alport Syndrome  Krabbe Disease
Andermann Syndrome Limb-Girdle Muscular Dystrophy Type 2A
Apnea, postanesthetic Limb-Girdle Muscular Dystrophy Type 2C
Argininosuccinate Lyase Deficiency Limb-Girdle Muscular Dystrophy Type 2D
Arthrogryposis, mental retardation, and seizures Limb-Girdle Muscular Dystrophy Type 2E
Asparagine synthetase deficiency Liver failure acute infantile
Aspartylglycosaminuria Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Ataxia With Vitamin E Deficiency Maple Syrup Urine Disease Type 1A
Ataxia-Telangiectasia Maple Syrup Urine Disease Type 1B
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Maple Syrup Urine Disease Type 2
Bardet-Biedl Syndrome, Type 1 Medium Chain Acyl-CoA Dehydrogenase Deficiency
Bardet-Biedl Syndrome, Type 2 Megalencephalic Leukoencephalopathy With Subcortical Cysts
Bardet-Biedl Syndrome, Type 10 Megaloblastic Anemia Syndrome
Bernard–Soulier Syndrome, Type B Metachromatic Leukodystrophy
Bernard–Soulier Syndrome, Type C Methlymalonic Acidemia, cb1A-Type
Beta-Ketothiolase Deficiency Methlymalonic Acidemia, cblB-Type
Beta-Thalassemia Methlymalonic Acidemia, mut-Type
Biotinidase Deficiency Methylmalonic Acidemia and Homocystinuria, cbIC-Type
Bloom Syndrome Microcephaly, postnatal progressive, with seizures and brain atrophy
Canavan Disease Microphthalmia
Carnitine Deficiency, Primary Mitochondrial complex 1 deficiency
Carnitine Palmitoyltransferase IA Deficiency Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Carnitine Palmitoyltransferase II Deficiency Mucolipidosis Type II/IIIA
Cartilage-Hair Hypoplasia Mucolipidosis Type IV
Cerebrotendinous xanthomatosis Mucopolysaccharidosis Type I (Hurler)
Cholesteryl ester storage disease Mucopolysaccharidosis Type II (Hunter)
Choreoacanthocytosis Mucopolysaccharidosis Type IIIA (Sanfilippo A)
Choroideremia Mucopolysaccharidosis Type IIIB (Sanfilippo B)
Chronic granulomatous disease Mucopolysaccharidosis Type IVA (Morquio A)
Ciliary dyskinesia, primary, 1 Mucopolysaccharidosis Type IVB (Morquio B)
Ciliary dyskinesia, primary, 3  Mucopolysaccharidosis Type VI (Maroteaux-Lamy)
Ciliary dyskinesia, primary, 9 Mucopolysaccharidosis Type VII (Sly)
Citrullinemia Type 1 Multiple sulfatase deficiency
Cohen Syndrome Muscle-Eye-Brain Disease
Combined Pituitary Hormone Deficiency Muscular dystrophy, limb-girdle, type 2B
Congenital Adrenal Hyperplasia (CAH) Myasthenic syndrome, congenital
Congenital Disorder of Glycosylation Type Ia Myopathy, lactic acidosis, and sideroblastic anemia 1
Congenital Disorder of Glycosylation Type Ib Nemaline Myopathy
Congenital insensitivity to pain with anhidrosis Nephrotic Syndrome Type 2
Costeff Optic Atrophy Syndrome Neu-Laxova syndrome 1
Cystic Fibrosis Neuronal Ceroid Lipofuscinosis Type 1
Cystinosis Neuronal Ceroid Lipofuscinosis Type 2
D-Bifunctional Protein Deficiency Neuronal Ceroid Lipofuscinosis Type 3
Deafness Neuronal Ceroid Lipofuscinosis Type 5
Dihydrolipoamide Dehydrogenase Deficiency (a.k.a Maple Syrup Urine Disease Type 3) Neuronal Ceroid Lipofuscinosis Type 8 (a.k.a Northern Epilepsy)
Dihydropyrimidine Dehydrogenase Deficiency Niemann-Pick Disease Type A & B
Duchenne/Becker Muscular Dystrophy Niemann-Pick Disease Type C1
Dyskeratosis congenital Niemann-Pick Disease Type C2
Dysprothrombinemia Nijmegen Breakage Syndrome
Ehlers-Danlos syndrome, type VIIC Oculocutaneous Albinism Type 1
Enhanced S-cone syndrome Omenn syndrome
Fabry Disease Ornithine Transcarbamlyase Deficiency
Factor XI Deficiency Pantothenate Kinase-associated Neurodegeneration
Familial Dysautonomia Papillon-Lefevre Syndrome (also Haim-Munk Syndrome)
Familial Mediterranean Fever Pendred Syndrome
Fanconi anemia, Type A Phenylalanine Hydroxylase Deficiency (PKU)
Fanconi Anemia Type C Polycystic Kidney Disease, Autosomal Recessive
Finnish Nephrosis (a.k.a Nephrotic Syndrome Type 1) Polyglandular Autoimmune Syndrome Type 1
Fragile X Syndrome Pontocerebellar hypoplasia type 1A
Fumarase Deficiency Pontocerebellar hypoplasia type 2D
Galactosemia Pontocerebellar hypoplasia, type 2E
Gaucher Disease Pontocerebellar hypoplasia, type 6
Glaucoma, Primary Congenital Progressive Pseudorheumatoid Dysplasia
Glucose-6-Phosphate Dehydrogenase Deficiency Pycnodysostosis
Glutaric Acidemia Type 1 Renal tubular acidosis with deafness
Glycogen Storage Disease Type Ia (von Gierke) Retinitis pigmentosa
Glycogen Storage Disease Type Ib (von Gierke) Retinoschisis, Juvenile
Glycogen Storage Disease: Type II (Pompe) Rett Syndrome
Glycogen Storage Disease Type III (Cori/Forbes) Rhizomelic Chondrodysplasia Punctata Type 1
Glycogen storage disease IV Salla Disease (a.k.a Sialic Acid Storage Disease)
Glycogen Storage Disease Type V (McArdle) Sandhoff Disease
Glycogen storage disease VII Segawa Syndrome
GRACILE Syndrome Short Chain Acyl-CoA Dehydrogenase Deficiency
Growth Hormone Deficiency, Isolated Sickle Cell Disease
Gyrate atrophy of choroid and retina  Sjogren-Larsson Syndrome
Hearing Loss, Non-syndromic (a.k.a Connexin 26) Skeletal Dysplasias, SLC26A2-related
Hearing Loss, Non-syndromic (a.k.a Connexin 30) Smith-Lemli-Opitz Syndrome
Heme Oxygenase 1 Deficiency Spastic paraplegia 49
Hemochromatosis Spinal Muscular Atrophy
Hemophilia B Tay-Sachs Disease (a.k.a. Hexosaminidase A Deficiency)
Hereditary Fructose Intolerance Thrombocytopenia
Herlitz Junctional Epidermolysis Bullosa, LAMA3-Related Tricho-Hepato-Enteric Syndrome
Herlitz Junctional Epidermolysis Bullosa, LAMB3-Related Tyrosinemia Type I
Herlitz Junctional Epidermolysis Bullosa, LAMC2-Related Ultraviolet light hypersensitivity
Hermansky-Pudlak syndrome 3 Usher Syndrome Type 1F
Homocystinuria, MTHFR related Usher Syndrome Type 3
Homocystinuria, CBS-deficient Usher syndrome, type 2A
Hydatidiform Mole, Recurrent Very Long Chain Acyl-CoA Dehydrogenase Deficiency
Hypercholesterolemia, familial Walker-Warburg Syndrome, Type 4 (also Fukuyama Congenital Muscular Dystrophy)
Hyperinsulinism Werner Syndrome
Hyperoxaluria, Primary Type 1 Wilson Disease
Hyperoxaluria, Primary Type 2 Woolly Hair/Hypotrichosis Syndrome
Hyperoxaluria, primary, type 3 Zellweger Spectrum Disorders

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