Evolve provides advanced and accurate genetic carrier screening for the most medically relevant genetic disorders for all ethnicities.

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.

Carrier Rates & Residual Risks

Genetic Disorders

Achromatopsia Hypohidrotic Ectodermal Dysplasia
Adrenoleukodystrophy Hypophosphatasia
Alkaptonuria Inclusion Body Myopathy 2
Alpha-1 Antitrypsin Deficiency Isovaleric Acidemia
Alpha-Mannosidosis Joubert Syndrome 2
Alpha-Thalassemia Krabbe Disease
Alport Syndrome Limb-Girdle Muscular Dystrophy, Type 2A
Andermann Syndrome Limb-Girdle Muscular Dystrophy, Type 2B
Argininosuccinate Lyase Deficiency Limb-Girdle Muscular Mystrophy, Type 2C
Arthrogryposis, Mental retardation, and Seizures Limb-Girdle Muscular Dystrophy, Type 2D (a.k.a. Alpha-Sarcoglycanopathy)
Asparagine Synthetase Deficiency Limb-Girdle Muscular Dystrophy, Type 2E (a.k.a. Beta-Sarcoglycanopathy)
Aspartylglucosaminuria Liver Failure Acute Infantile
Ataxia with Vitamin E Deficiency Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Ataxia-Telangiectasia Maple Syrup Urine Disease, Type 1A
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Maple Syrup Urine Disease, Type 1B
Bardet-Biedl Syndrome, Type 1 Maple Syrup Urine Disease, Type 2
Bardet-Biedl Syndrome, Type 2 Maple Syrup Urine Disease Type 3
Bardet-Biedl Syndrome, Type 10 Medium Chain Acyl-CoA Dehydrogenase Deficiency
Bernard–Soulier Syndrome, Type B Megalencephalic Leukoencephalopathy with Subcortical Cysts
Bernard-Soulier Syndrome, Type C Megaloblastic Anemia Syndrome
Beta-Ketothiolase Deficiency Metachromatic Leukodystrophy
Beta-Thalassemia / Sickle Cell Disease Methylmalonic Acidemia and Homocystinuria, cblC-Type
Biotinidase Deficiency Methylmalonic Acidemia, cb1A-Type
Bloom Syndrome Methylmalonic Acidemia, cb1B-Type
Canavan Disease Methylmalonic Acidemia, mut-Type
Carnitine Deficiency, Primary Microcephaly, Postnatal Progressive, with Seizures and Brain atrophy
Carnitine Palmitoyltransferase IA Deficiency Microphthalmia
Carnitine Palmitoyltransferase II Deficiency Mitochondrial Complex 1 Deficiency
Cartilage-Hair Hypoplasia Mitochondrial DNA Depletion Syndrome 1 (MNGIE type)
Cerebrotendinous Xanthomatosis Mucolipidosis II /IIIA
Cholesteryl Ester Storage Disease Mucolipidosis IV
Choreoacanthocytosis Mucopolysaccharidosis, Type I
Choroideremia Mucopolysaccharidosis, Type II
Chronic Granulomatous Disease Mucopolysaccharidosis, Type IIIA
Ciliary Dyskinesia, Primary 1 Mucopolysaccharidosis, Type IIIB
Ciliary Dyskinesia, Primary 3 Mucopolysaccharidosis, Type IVA
Ciliary Dyskinesia, Primary 9 Mucopolysaccharidosis, Type VI
Citrullinemia, Type 1 Mucopolysaccharidosis, Type VII
Cohen Syndrome Multiple Sulfatase Deficiency
Combined Pituitary Hormone Deficiency Muscle-Eye-Brain Disease
Congenital Adrenal Hyperplasia 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 1 (a.k.a. Finnish Nephrosis)
Costeff Syndrome (a.k.a. 3-Methylglutaconic Aciduria Type 3) Nephrotic Syndrome, Type 2
Cystic Fibrosis Neu-Laxova Syndrome 1
Cystinosis Neuronal Ceroid Lipofuscinosis, Type 1
D-bifunctional Protein Deficiency Neuronal Ceroid Lipofuscinosis, Type 2
Dihydropyrimidine Dehydrogenase Deficiency Neuronal Ceroid Lipofuscinosis, Type 3
Duchenne/Becker Muscular Dystrophy Neuronal Ceroid Lipofuscinosis, Type 5
Dyskeratosis Congenital Neuronal Ceroid Lipofuscinosis, Type 8 (a.k.a. Northern Epilepsy)
Dysprothrombinemia Niemann-Pick Disease, Type A & B
Ehlers-Danlos Syndrome, Type VIIC Niemann-Pick Disease, Type C1
Enhanced S-cone Syndrome Niemann-Pick Disease, Type C2
ERCC6-Related Disorders Nijmegen Breakage Syndrome
ERCC8-Related Disorders Oculocutaneous Albinism, Type 1
Fabry Disease Omenn syndrome
Factor XI Deficiency Ornithine Transcarbamylase Deficiency
Familial Dysautonomia Pantothenate Kinase-Associated Neurodegeneration
Familial Mediterranean Fever Papillon-Lefevre Syndrome
Fanconi Anemia, Type A Pendred Syndrome
Fanconi Anemia, Type C Phenylalanine Hydroxylase Deficiency
Fragile X syndrome Polycystic Kidney Disease 
Fumarase Deficiency Polyglandular Autoimmune Syndrome, Type 1
Galactosemia Pontocerebellar Hypoplasia, Type 1A
Gaucher Disease Pontocerebellar Hypoplasia, Type 2D
Glaucoma, Primary Congenital Pontocerebellar Hypoplasia, Type 2E
Glucose-6-Phosphate Dehydrogenase Deficiency Pontocerebellar Hypoplasia, Type 6
Glutaric Acidemia, Type I Progressive Pseudorheumatoid Dysplasia
Glycogen Storage Disease Ia (von Gierke) Pseudocholinesterase Deficiency
Glycogen Storage Disease Ib (von Gierke) Pycnodysostosis
Glycogen Storage Disease II (Pompe) Renal Tubular Acidosis with Deafness
Glycogen Storage Disease III (Cori/Forbes) Retinitis Pigmentosa
Glycogen Storage Disease IV Retinoschisis, Juvenile 
Glycogen Storage Disease V (McArdle) RETT Syndrome
Glycogen Storage Disease VII Rhizomelic Chondrodysplasia Punctata, Type 1
GM1 Gangliosidosis Salla Disease (a.k.a. Sialic Acid Storage Disease)
GRACILE Syndrome Sandhoff Disease
Growth Hormone Deficiency, Isolated Segawa Syndrome
Gyrate Atrophy of Choroid and Retina Short-Chain Acyl-CoA Dehydrogenase Deficiency
Hearing Loss, Non-syndromic Sjogren-Larsson Syndrome
Hearing Loss, Non-syndromic (a.k.a. Connexion 26) Skeletal Dysplasias, including Achondrogenesis, Type 1B
Hearing Loss, Non-syndromic (a.k.a. Connexion 30) Smith-Lemli-Opitz Syndrome
Heme Oxygenase-1 Deficiency Spastic Paraplegia 49
Hemochromatosis Spinal Muscular Atrophy
Hemophilia B Tay-Sachs Disease
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 Usher Syndrome, Type 1F
Hermansky-Pudlak Syndrome 3 Usher Syndrome, Type 2A
Homocystinuria, CBS-deficient Usher Syndrome, Type 3
Hydatidiform Mole, Recurrent Very Long Chain Acyl-CoA Dehydrogenase Deficiency
Hyperinsulinism Walker Warburg Syndrome, Type 4
Hyperoxaluria, Primary Type 1 Werner Syndrome
Hyperoxaluria, Primary Type 2 Wilson disease
Hyperoxaluria, Primary Type 3 Woolly Hair/Hypotrichosis  Syndrome
Hypoaldosteronism Zellweger Spectrum Disorders

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