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Horizon Carrier Screening Condition List

For a list of detection rates and carrier rates, please call Natera at 650-249-9090 and ask to speak to one of our board-certified genetic counselors.

Name & Description X-Linked Recommendations
3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency
3-Methylcrotonyl-CoA Carboxylase 2 Deficiency ACMG
3-Phosphoglycerate Dehydrogenase Deficiency
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency
Achondrogenesis, Type 1B ACMG
Achromatopsia, CNGB3-Related ACMG
Acrodermatitis Enteropathica
Acute Infantile Liver Failure, TRMU-Related
Acyl-CoA Oxidase I Deficiency
Adrenoleukodystrophy, X-Linked ACMG
Aicardi-Goutières Syndrome
Alpha-Thalassemia ACMG ACOG
Alpha-Thalassemia Intellectual Disability Syndrome
Alport Syndrome, COL4A3-Related
Alport Syndrome, COL4A4-Related
Alport Syndrome, X-Linked
Alstrom Syndrome
Andermann Syndrome
Argininosuccinate Lyase Deficiency ACMG
Aromatase Deficiency
Arts Syndrome
Asparagine Synthetase Deficiency
Aspartylglycosaminuria ACMG
Ataxia with Vitamin E Deficiency
Autism Spectrum, Epilepsy and Arthrogryposis
Autoimmune Polyglandular Syndrome, Type 1 ACMG
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Bardet-Biedl Syndrome, BBS1-Related ACMG
Bardet-Biedl Syndrome, BBS10-Related
Bardet-Biedl Syndrome, BBS12-Related
Bardet-Biedl Syndrome, BBS2-Related ACMG
Bare Lymphocyte Syndrome, CIITA-Related
Bartter Syndrome, BSND-Related
Batten Disease, CLN3-Related
Bernard-Soulier Syndrome, Type A1/A2
Bernard-Soulier Syndrome, Type C
Beta-Hemoglobinopathies ACMG ACOG
Beta-Ketothiolase Deficiency ACMG
Bilateral Frontoparietal Polymicrogyria
Biotinidase Deficiency ACMG
Bloom Syndrome ACMG ACOG
Canavan Disease ACMG ACOG
Carbamoyl Phosphate Synthetase I Deficiency
Carnitine Deficiency
Carnitine Palmitoyltransferase IA Deficiency
Carnitine Palmitoyltransferase II Deficiency ACMG
Carpenter Syndrome
Cartilage-Hair Hypoplasia
Cerebrotendinous Xanthomatosis ACMG
Charcot-Marie-Tooth Disease with Deafness, X-Linked
Charcot-Marie-Tooth Disease, Type 4D
Chronic Granulomatous Disease, CYBA-Related
Chronic Granulomatous Disease, X-Linked
Ciliopathies, RPGRIP1L-Related
Citrin Deficiency
Citrullinemia, Type 1
Cohen Syndrome
Combined Malonic and Methylmalonic Aciduria
Combined Oxidative Phosphorylation Deficiency 1
Combined Oxidative Phosphorylation Deficiency 3
Combined Pituitary Hormone Deficiency-2
Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency
Congenital Adrenal Hyperplasia, 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia ACMG
Congenital Amegakaryocytic Thrombocytopenia
Congenital Disorder of Glycosylation, Type 1A, PMM2-Related ACMG
Congenital Disorder of Glycosylation, Type 1B
Congenital Disorder of Glycosylation, Type 1C
Congenital Finnish Nephrosis ACMG
Congenital Hyperinsulinism, KCNJ11-Related
Congenital Insensitivity to Pain with Anhidrosis (CIPA)
Congenital Myasthenic Syndrome, CHRNE-Related ACMG
Congenital Myasthenic Syndrome, RAPSN-Related
Congenital Neutropenia, HAX1-Related
Congenital Neutropenia, VPS45-Related
Corneal Dystrophy and Perceptive Deafness
Corticosterone Methyloxidase Deficiency
Costeff Syndrome (3-Methylglutaconic Aciduria, Type 3)
CRB1-Related Retinal Dystrophies
Creatine Transporter Defect (Cerebral Creatine Deficiency Syndrome 1, X-Linked) ACMG
Cystic Fibrosis ACMG ACOG
D-Bifunctional Protein Deficiency
Deafness, Autosomal Recessive 77
Duchenne/Becker Muscular Dystrophy ACMG
Dyskeratosis Congenita, RTEL1-Related
Dystrophic Epidermolysis Bullosa, COL7A1-Related ACMG
Ehlers-Danlos Syndrome, Type VIIC
Ellis-van Creveld Syndrome, EVC-Related
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Enhanced S-Cone Syndrome
Ethylmalonic Encephalopathy
Fabry Disease ACMG
Factor IX Deficiency ACMG
Factor XI Deficiency
Familial Dysautonomia ACMG ACOG
Familial Hypercholesterolemia, LDLR-Related
Familial Hypercholesterolemia, LDLRAP1-Related
Familial Hyperinsulinism, ABCC8-Related ACMG ACOG
Familial Mediterranean Fever
Familial Nephrogenic Diabetes Insipidus, AQP2-Related
Fanconi Anemia, Group A ACOG
Fanconi Anemia, Group C ACMG ACOG
Fanconi Anemia, Group G ACOG
Fragile X Syndrome ACMG ACOG
Fumarase Deficiency
Galactokinase Deficiency (Galactosemia, Type II)
Galactosemia ACMG
Gaucher Disease ACMG
Gitelman Syndrome
Glutaric Acidemia, Type 1
Glutaric Acidemia, Type 2A
Glutaric Acidemia, Type 2C
Glycine Encephalopathy, AMT-Related
Glycine Encephalopathy, GLDC-Related
Glycogen Storage Disease, Type 1a ACMG ACOG
Glycogen Storage Disease, Type 1b ACMG ACOG
Glycogen Storage Disease, Type 2 (Pompe Disease) ACMG
Glycogen Storage Disease, Type 3
Glycogen Storage Disease, Type 4 ACMG
Glycogen Storage Disease, Type 5 (McArdle Disease)
Glycogen Storage Disease, Type 7
GRACILE Syndrome
Guanidinoacetate Methyltransferase Deficiency
Hemochromatosis, Type 2A
Hemochromatosis, Type 3, TFR2-Related
Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-Related
Hereditary Fructose Intolerance ACMG
Hereditary Spastic Paraparesis, Type 49
Hermansky-Pudlak Syndrome, HPS1-Related ACMG
Hermansky-Pudlak Syndrome, HPS3-Related ACMG
Holocarboxylase Synthetase Deficiency
Homocystinuria due to Deficiency of MTHFR
Homocystinuria, CBS-Related ACMG
Homocystinuria, Type cblE
Hydrolethalus Syndrome
Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH Syndrome)
Hypohidrotic Ectodermal Dysplasia, X-Linked
Hypophosphatasia, ALPL-Related ACMG
Inclusion Body Myopathy 2
Infantile Cerebral and Cerebellar Atrophy
Isovaleric Acidemia
Joubert Syndrome 2 / Meckel Syndrome 2 ACMG ACOG
Junctional Epidermolysis Bullosa, LAMA3-Related
Junctional Epidermolysis Bullosa, LAMB3-Related
Junctional Epidermolysis Bullosa, LAMC2-Related
Juvenile Retinoschisis, X-Linked ACMG
Krabbe Disease
Lamellar Ichthyosis, Type 1
Leber Congenital Amaurosis 2
Leber Congenital Amaurosis, Type CEP290 ACMG
Leber Congenital Amaurosis, Type LCA5
Leber Congenital Amaurosis, Type RDH12
Leigh Syndrome, French-Canadian Type
Lethal Congenital Contracture Syndrome 1
Leukoencephalopathy with Vanishing White Matter
Limb-Girdle Muscular Dystrophy, Type 2A
Limb-Girdle Muscular Dystrophy, Type 2B
Limb-Girdle Muscular Dystrophy, Type 2C
Limb-Girdle Muscular Dystrophy, Type 2D
Limb-Girdle Muscular Dystrophy, Type 2E
Limb-Girdle Muscular Dystrophy, Type 2I ACMG
Lipoamide Dehydrogenase Deficiency (Dihydrolipoamide Dehydrogenase Deficiency) ACMG
Lipoid Adrenal Hyperplasia
Lipoprotein Lipase Deficiency
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Lysinuric Protein Intolerance
Maple Syrup Urine Disease, Type 1A ACOG
Maple Syrup Urine Disease, Type 1B ACMG ACOG
Meckel-Gruber Syndrome, Type 1
Medium Chain Acyl-CoA Dehydrogenase Deficiency ACMG ACOG
Megalencephalic Leukoencephalopathy with Subcortical Cysts ACMG
Menkes Syndrome
Metachromatic Leukodystrophy, ARSA-Related ACMG
Metachromatic Leukodystrophy, PSAP-Related
Methylmalonic Aciduria and Homocystinuria, Type cblC ACMG
Methylmalonic Aciduria and Homocystinuria, Type cblD
Methylmalonic Aciduria, MMAA-Related
Methylmalonic Aciduria, MMAB-Related
Methylmalonic Aciduria, Type mut(0) ACMG
Microphthalmia/Anophthalmia, VSX2-Related
Mitochondrial Complex 1 Deficiency, ACAD9-Related
Mitochondrial Complex 1 Deficiency, NDUFAF5-Related
Mitochondrial Complex 1 Deficiency, NDUFS6-Related
Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1)
Mucolipidosis II/IIIA ACMG
Mucolipidosis III gamma
Mucolipidosis, Type IV ACMG ACOG
Mucopolysaccharidosis, Type I (Hurler Syndrome) ACMG
Mucopolysaccharidosis, Type II (Hunter Syndrome)
Mucopolysaccharidosis, Type IIIA (Sanfilippo A)
Mucopolysaccharidosis, Type IIIB (Sanfilippo B)
Mucopolysaccharidosis, Type IIIC (Sanfilippo C)
Mucopolysaccharidosis, Type IIID (Sanfilippo D)
Mucopolysaccharidosis, Type IVB / GM1 Gangliosidosis
Mucopolysaccharidosis, Type IX
Mucopolysaccharidosis, Type VI (Maroteaux-Lamy)
Multiple Sulfatase Deficiency
Muscle-Eye-Brain Disease, POMGNT1-Related
Myoneurogastrointestinal Encephalopathy (MNGIE)
Myotubular Myopathy, X-Linked
N-acetylglutamate Synthase Deficiency
Nemaline Myopathy, NEB-Related ACMG
Neuronal Ceroid Lipofuscinosis, CLN5-Related
Neuronal Ceroid Lipofuscinosis, CLN6-Related
Neuronal Ceroid Lipofuscinosis, CLN8-Related
Neuronal Ceroid Lipofuscinosis, MFSD8-Related
Neuronal Ceroid Lipofuscinosis, PPT1-Related
Neuronal Ceroid Lipofuscinosis, TPP1-Related
Niemann-Pick Disease, Type C1/D ACOG
Niemann-Pick Disease, Type C2 ACOG
Niemann-Pick Disease, Types A/B ACMG ACOG
Nijmegen Breakage Syndrome
Non-Syndromic Hearing Loss, GJB2-Related ACMG
Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome
Omenn Syndrome, RAG2-Related
Ornithine Aminotransferase Deficiency
Ornithine Transcarbamylase Deficiency ACMG
Osteopetrosis, Infantile Malignant, TCIRG1-Related
Pendred Syndrome ACMG
Phenylketonuria ACMG
Pituitary Hormone Deficiency, Combined 3
Polycystic Kidney Disease, Autosomal Recessive ACMG
Pontocerebellar Hypoplasia, RARS2-Related ACMG
Pontocerebellar Hypoplasia, Type 1A
Pontocerebellar Hypoplasia, Type 2D
Primary Ciliary Dyskinesia, DNAH5-Related
Primary Ciliary Dyskinesia, DNAI1-Related
Primary Ciliary Dyskinesia, DNAI2-Related
Primary Hyperoxaluria, Type 1 ACMG
Primary Hyperoxaluria, Type 2
Primary Hyperoxaluria, Type 3
Progressive Familial Intrahepatic Cholestasis, Type 2
Propionic Acidemia, PCCA-Related
Propionic Acidemia, PCCB-Related
Pyruvate Dehydrogenase Deficiency, PDHB-Related
Pyruvate Dehydrogenase Deficiency, X-Linked
Renal Tubular Acidosis and Deafness, ATP6V1B1-Related
Retinitis Pigmentosa 25
Retinitis Pigmentosa 26
Retinitis Pigmentosa 28
Retinitis Pigmentosa 59 ACMG
Rhizomelic Chondrodysplasia Punctata, Type 1
Rhizomelic Chondrodysplasia Punctata, Type 3
Roberts Syndrome
Salla Disease
Sandhoff Disease
Schimke Immunoosseous Dysplasia
Segawa Syndrome, TH-Related
Severe Combined Immunodeficiency, ADA-Related
Severe Combined Immunodeficiency, Type Athabaskan
Severe Combined Immunodeficiency, X-Linked
Sjogren-Larsson Syndrome
Smith-Lemli-Opitz Syndrome ACMG ACOG
Spinal Muscular Atrophy ACMG ACOG
Spondylothoracic Dysostosis, MESP2-Related
Steel Syndrome
Steroid-Resistant Nephrotic Syndrome
Stuve-Wiedemann Syndrome
Tay-Sachs Disease ACMG ACOG
Tyrosinemia, Type 1 ACMG
Usher Syndrome, Type 1B
Usher Syndrome, Type 1C
Usher Syndrome, Type 1D
Usher Syndrome, Type 1F ACMG ACOG
Usher Syndrome, Type 2A ACMG
Usher Syndrome, Type 3 ACMG ACOG
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency ACMG
Walker-Warburg Syndrome, FKTN-Related ACMG
Wilson Disease ACMG
Wolman Disease
Zellweger Spectrum Disorders, PEX1-Related
Zellweger Spectrum Disorders, PEX10-Related
Zellweger Spectrum Disorders, PEX2-Related
Zellweger Spectrum Disorders, PEX6-Related
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